Table 7.
Nonsynonymous SNP in MMU2, 9 and 17 hg modifier candidate genes predicted by SIFT and Polyphen to alter protein function
Gene | MMU | Mbp | AAÄa | B6/CASTb Polyphen | CAST/B6 Polyphen | B6/CAST SIFT | CAST/B6 SIFT |
Nmi | 2 | 52.0 | R243C | B | B | T | D |
Mtx2 | 2 | 74.7 | T1099M | PSD | PSD | T | D |
Ubr1 | 2 | 120.6 | A1371T | B | B | D | T |
Ptpns1 | 2 | 129.3 | H224N | PBD | PBD | T | T |
Ubce7ip5 | 2 | 130.3 | A314P | PSD | PSD | T | T |
2 | I366T | B | B | T | D | ||
Plcg1 | 2 | 160.5 | T1165A | B | B | T | D |
Mmp9 | 2 | 164.7 | A514P | B | B | D | D |
2 | P639L | PBD | PBD | T | T | ||
Tyk2 | 9 | 21.0 | R234H | PSD | PSD | T | T |
C831S | PSD | PSD | T | T | |||
T1099M | PSD | PSD | T | D | |||
Vav | 17 | 55.5 | Q29H | PSD | PBD | T | T |
Q53H | PBD | PSD | T | T | |||
Q65H | PBD | PSD | T | D |
MMU, mouse chromosome; AA, amino acid; PBD, probably damaging, PSD, possibly damaging; B, Benign; T, tolerated and D, deleterious.
a Amino acid change, first residue listed corresponds to the CAST allele and second corresponds to the B6 allele.
b Indicates which allele was designated as "mutant", i.e. B6/CAST, B6 allele is mutant and CAST is wild type.