Table 5.
Mouse upstream and exon variations of Nfe2l2 locus in 17 inbred strains. Reference sequence is C57BL/6J (B6, strain 1) genome (GI: 149338249, 75547698–75513576). SNP allele and genotypes are shown as chromosome contig sequence. Strains 2: 129S1/SvlmJ, 3: A/J, 4: AKR/J, 5: BALB/cJ, 6: C3H/HeJ, 7: C57BL6/NJ, 8: CAST/EiJ, 9: CBA/J, 10: DBA/2J, 11: FVB/NJ, 12: LP/J, 13: NOD/ShiLtJ, 14: NZO/HILtJ, 15: PWK/PhJ, 16: SPRET/EiJ, 17: WSB/EiJ.
| SNP ID | Chr2 location (bp) |
SNP allele | Region | Location from TSS/reversed SNP allele | Consequences | Strains | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 B6 |
2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | ||||||
| rs256608517 | 75705565 | G/A (C/T) | 5′Flanking | −924 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | A | G |
| rs47274959 | 75705562 | A/T (T/A) | 5′Flanking | −921 | NC | A | T | T | A | T | T | A | A | T | T | A | T | A | T | T | T | A |
| rs216940398 | 75705554–75705555 | T add (A add) | 5′Flanking | −913 : −914 | NC | CG | ||||||||||||||||
| rs239114134 | 75705540 | C/T (G/A) | 5′Flanking | −899 | NC | C | T | T | C | T | T | C | C | T | T | C | T | C | T | C | T | C |
| rs46461765 | 75705528 | T/G (A/C) ?oA/C? | 5′Flanking | −887 | NC | T | G | G | T | G | G | T | T | G | G | T | G | T | G | G | G | T |
| rs51449853 | 75705525 | C/A (G/T) | 5′Flanking | −884 | NC | C | A | A | C | A | A | C | C | A | A | C | A | C | A | C | C | C |
| rs249093111 | 75705512 | C/T (G/A) | 5′Flanking | −871 | NC | C | T | T | C | T | T | C | C | T | T | C | T | C | T | T | T | C |
| rs263745200 | 75705510 | C/G (G/C) | 5′Flanking | −869 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | C | G | G |
| rs45651867 | 75705498 | T/G (A/C) | 5′Flanking | −857 | NC | T | G | G | T | G | G | T | T | G | G | T | G | T | G | G | G | T |
| rs219997531 | 75705495 | G/A (C/T) | 5′Flanking | −854 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs251918379 | 75705451 | T/A (A/T) | 5′Flanking | −810 | NC | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | A | T |
| rs27978306 | 75705449 | T/A (A/T) | 5′Flanking | −808 | NC | T | A | A | T | A | A | T | T | A | A | T | A | T | A | T | T | T |
| rs216087412 | 75705429 | T/G (A/C)* | 5′Flanking | −788 | NC | T* | T* | T* | T* | T* | T* | T* | T* | T* | T* | T* | T* | T* | T* | G | T* | T* |
| rs261229914 | 75705423–75705424 | AG del (CT del) | 5′Flanking | −783 : −784 | NC | AG | ||||||||||||||||
| rs27978307 | 75705400 | C/T (G/A) | 5′Flanking | −759 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C | C |
| rs243167395 | 75705359 | G/A (C/T) | 5′Flanking | −718 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs27978308 | 75705307 | G/A (C/T) | 5′Flanking | −666 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G | G |
| rs254744098 | 75705294 | A/T (T/A) | 5′Flanking | −653 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | T | A |
| rs228133419 | 75705179 | G/T (C/A) | 5′Flanking | −538 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | T | G |
| rs214719520 | 75705111 | G/A (C/T) | 5′Flanking | −470 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs244087730 | 75705101 | G/A (C/T) | 5′Flanking | −460 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs227781699 | 75705081 | C/G (G/C) | 5′Flanking | −440 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | G | C | C |
| rs257870353 | 75705067 | C/T (G/A) | 5′Flanking | −426 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C | C |
| rs244877440 | 75705022 | A/G (T/C) | 5′Flanking | −381 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | A |
| rs234628138 | 75704973 | A/C (T/G) | 5′Flanking | −332 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | C | A |
| rs247275247 | 75704961 | G/A (C/T) | 5′Flanking | −320 | NC | G | G | G | G | G | G | G | G | G | G | G | G | A | G | G | G | G |
| rs247519047 | 75704922 | G del (C del) | 5′Flanking | −281 | NC | G | ||||||||||||||||
| rs27978309 (rs51915758) | 75704887 | G/A/C (C/T/G) | 5′Flanking | −246 | NC | G | A | A | G | A | A | G | G | A | A | G | A | G | A | C | C | G |
| rs218139102 | 75704879 | C/A (G/T) | 5′Flanking | −238 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | A | C | C |
| rs251990355 | 75704870 | T/C (A/G) | 5′Flanking | −229 | NC | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs238746955 | 75704794 | A/G (T/C) | 5′Flanking | −153 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | A | A |
| rs221664405 | 75704786 | A/G (T/C) | 5′Flanking | −145 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | A |
| rs217054035 | 75704766–75704767 | GAA add (TTC add) | 5′Flanking | −125 : −126 | NC | GA | ||||||||||||||||
| rs248182931 | 75704759–75704760 | G add (C add) | 5′Flanking | −118 : −119 | NC | AG | ||||||||||||||||
| rs217197904 | 75704744 | G/A (C/T) | 5′Flanking | −103 | (+)Sp1[23] | G | A | A | G | A | A | G | G | A | A | G | A | A | A | G | G | A |
| rs264493649 | 75704704 | G del (C del) | 5′Flanking | −63 | NC | G | ||||||||||||||||
| rs240481112 | 75704682 | C/T (G/A) | 5′Flanking | −41 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C |
| rs27978310 | 75704617 | A/G (T/C) | UTR-5 | 25 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | G | A |
| rs27978311 | 75704610 | C/G (G/C) | UTR-5 | 32 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | C |
| rs27978312 | 75704605 | G/A (C/T) | UTR-5 | 37 | NC | G | A | A | G | A | A | G | G | A | A | G | A | G | A | G | G | G |
| rs214784220 | 75704499 | A/G (T/C) | UTR-5 | 143 | NC | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | G | A |
| rs244146318 | 75704498 | G/T (C/A) | UTR-5 | 144 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | T | G |
| rs27978313 | 75704497 | G/C (C/G) | UTR-5 | 145 | NC | G | C | C | G | C | C | G | C | C | C | G | C | C | C | C | C | C |
| rs215431944 | 75704493 | C/T (G/A) | UTR-5 | 149 | NC | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C | C |
| rs257015697 | 75704449 | G/A (C/T) | UTR-5 | 193 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs252234782 | 75704419 | G/T (C/A) | UTR-5 | 223 | NC | G | ||||||||||||||||
| rs13460861 | 75679262 | A/G (T/C) | Exon2 | 446 | Cns F71L | A | G | G | A | G | G | A | G | G | G | A | G | A | G | G | G | G |
| rs13460859 | 75679202 | G/A (C/T)* | Exon2 | 506 | Cs H91= | G | A | A | G | A | A | G | G | A | A | G | A | G | A | G | G | G |
| rs27978436 | 75679187 | G/A (C/T)* | Exon2 | 521 | Cs T96= | G | G | G | G | G | G | G | A | G | G | G | G | G | G | A | G | G |
| rs226131070 | 75679178 | G/A (C/T) | Exon2 | 530 | Cs S99= | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs227683834 | 75678576 | A/T (T/A) | Exon3 | 547 | Cns V105D | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | T | A |
| rs257321187 | 75678506 | T/C (A/G) | Exon3 | 617 | Cs P128= | T | T | T | T | T | T | T | C | T | T | T | T | T | T | T | T | T |
| rs27978444 | 75678500 | T/A (A/T) | Exon3 | 623 | Cs V130= | T | T | T | T | T | T | T | A | T | T | T | T | T | T | A | T | T |
| rs227743136 | 75677686 | G/A (C/T) | Exon4 | 662 | Cs H143= | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs215327202 | 75677664 | C/G (G/C) | Exon4 | 684 | Cns A151P | C | C | C | C | C | C | C | G | C | C | C | C | C | C | C | C | C |
| rs247539755 | 75677663 | G/A (C/T) | Exon4 | 685 | Cns A151V | G | G | G | G | G | G | G | A | G | G | G | G | G | G | G | G | G |
| rs233164668 | 75677640 | T/C (A/G) | Exon4 | 708 | Cns N159D | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs234095816 | 75677162–75677160 | GCT del (AGC del) |
Exon5 | 826−828 | Cds-indel Q198 | GCT | ||||||||||||||||
| rs27978452 | 75677145 | C/T (G/A) | Exon5 | 843 | Cns A204T | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T |
| rs225047937 | 75677086–75677078 | GAGATCGAT del (ATGCATCTC del) |
Exon5 | 902−910 | Cds-indel (S224/I225/S226) | GAG ATC GAT |
||||||||||||||||
| rs241469868 | 75676998 | T/A (G/T) | Exon5 | 990 | Cn T253S | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | A | T |
| rs221602571 | 75676923 | A/C (T/G) | Exon5 | 1065 | Cns S278A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | C | A |
| rs252576472 | 75676876 | G/A (C/T) | Exon5 | 1112 | Cs S293= | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G |
| rs250802933 | 75676841 | T/C (A/G) | Exon5 | 1147 | Cns D305G | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs225425698 | 75676792 | C/T (G/A) | Exon5 | 1196 | Cs P321= | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C |
| rs13459064 | 75676732 | C/T (G/A) | Exon5 | 1256 | Cs T341= | C | T | T | C | T | T | C | T | T | T | C | T | C | T | T | C | C |
| rs27978453 | 75676717 | C/T (G/A) | Exon5 | 1271 | Cs A346= | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C | C |
| rs214335034 | 75676636 | A/G (T/C) | Exon5 | 1352 | Cs D373= | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | A |
| rs249583644 | 75676603 | A/C (T/G) | Exon5 | 1385 | Cs P384= | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | C | A |
| rs27978454 | 75676592 | G/A (C/T) | Exon5 | 1396 | Cns P388L | G | G | G | G | G | G | G | G | G | G | G | G | G | G | A | G | G |
| rs215384328 | 75676589 | G/C (C/G) | Exon5 | 1399 | Cns A389G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | C | G |
| rs251728286 | 75676571 | G/A (C/T) | Exon5 | 1417 | Cns T395I | G | ||||||||||||||||
| rs247602334 | 75676567 | T/C (A/G) | Exon5 | 1421 | Cs V396= | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs234216231 | 75676530 | T/C (A/G) | Exon5 | 1458 | Cns M409V | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs212904337 | 75676526 | C/T (G/A) | Exon5 | 1462 | Cns R410H | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C | T | C |
| rs252650779 | 75676522 | T/C (A/G) | Exon5 | 1466 | Cs E411= | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs231273560 | 75676516 | T/C (A/G) | Exon5 | 1472 | Cs Q413= | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs257886949 | 75676413 | G/T (C/A) | Exon5 | 1575 | Cs R448= | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | T | G |
| rs241537608 | 75676404 | G/C (C/G) | Exon5 | 1584 | Cns L451V | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | C | G |
| rs227619071 | 75676312 | T/C (A/G) | Exon5 | 1676 | Cs Q481= | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
| rs258913831 | 75676290 | A/G (T/C) | Exon5 | 1698 | Cs L489= | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | G | A |
| rs225593319 | 75676126 | A/T (T/A) | Exon5 | 1862 | Cns H543Q | A | ||||||||||||||||
| rs4223233 | 75676105 | G/A (C/T) | Exon5 | 1883 | Cs S550= | G | G | G | G | G | G | G | A | G | G | G | G | G | G | G | G | G |
| rs4223232 | 75676032 | G/T (C/A) | Exon5 | 1956 | Cns L575M | G | ||||||||||||||||
| rs4223231 | 75675816 | C/G | UTR-3 | 2172 | NC | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | C | G |
| rs1346860 | 75675682 | A/T | UTR-3 | 2306 | NC | A | ||||||||||||||||
Sequence variations in mouse Nrf2 were obtained from Mouse Phenome Database (http://phenome.jax.org/SNP) and NCBI SNP database (http://www.ncbi.nlm.nih.gov/SNP). NCBI reference sequence is Mus Musculus strain C57BL/6J chromosome 2, GRCm38.p1 (NC_000068.7, GI: 372099108. 75,704,641–75,675,519,29,123 bp). Total 968 genetic mutations are reported in Nrf2 gene and 5 kb upstream (≥75,704,642; −1) and 2 kb downstream (≤75,675,512) sequences as of January 2003. All SNPs and alleles are presented as genomic contig (reversed sequence indicated). Exon 1: 75,704,641–75,704,364 (278 bp, TTS = 75,704,408), exon 2: 75,679,431–75,679,165 (267 bp), exon 3: 75,678,579–75,678,490 (90 bp), exon 4: 75,677,713–75,677,546 (168 bp), and exon 5: 75,677,184–75,678,849 (1,666 bp). Protein amino acid (aa) residues in NP_006155.2 (597 aa). Cs: coding-synonymous. Cns: coding-nonsynonymous. Amino acid A-alanine, D-aspartic acid, E-glutamic acid, F-phenylalanine, G-glycine, H-histidine, I-isoleucine, L-leucine, and M-methionine. N-asparagine, P-proline, Q-glutamine, R-arginine, S-serine, T-threonine, and V-valine. *Errors in databases fixed. NC: not confirmed.