Table 1.
Mutations identified that altered amino acid sequences
| Symbol | Reference | Allele | Coding/amino acid change | Group | Mutation type | Conserved region in human genome† | Predicted functional effect‡ |
|---|---|---|---|---|---|---|---|
| Csmd1 | C | T | NM_053171:c.5755G>A,p.Ala1919Thr | Young | Missense | No | N/A |
| Lmln | C | T | NM_172823:c.1597C>T,p.Gln533* | Young | Nonsense | Yes | Damaging |
| Mrgpra6 | G | A | NM_001308537:c.799C>T,p.Arg267Trp | Young | Missense | No | N/A |
| Sidt2 | G | C | NM_172257:c.[1062C>G],p.[Tyr354*] | Young | Nonsense | Yes | Stop gain |
| Slc5a9 | C | T | NM_145551:c.298G>A,p.Gly100Ser | Young | Missense | Yes | Damaging |
| Ahnak | C | T | NM_009643:c.[3092C>T],p.Pro1031Leu | Old | Missense | Yes | Damaging |
| Bcl11b§ | G§ | A§ | NM_021399:c.610C>T,p.Gln204*§ | Old | Nonsense§ | Yes | Damaging |
| Carm1 | A | G | NM_021531:c.[1441A>G],p.[Thr481Ala] | Old | Missense | Yes | Benign |
| Cdr1 | G | A | NM_001166658:c.892C>T,p.Arg298Trp | Old | Missense | No | N/A |
| Hist1h2ac§ | G§ | A§ | NM_178189:c.97C>T,p.Arg33Trp§ | Old | Missense§ | Yes | Damaging |
| Grin3a | A | — | NM_001033351:c.[1797delT],p.[Ile599fs] | Old | Deletion | Yes | Frameshift |
| Itpkb | A | G | NM_001081175:c.2521A>G,p.Lys841Glu | Old | Missense | Yes | Benign |
| Notch3§ | C§ | T§ | NM_008716:c.668G>A,p.Cys223Tyr§ | Old | Missense§ | Yes | Damaging |
| Npy2r§ | G§ | A§ | NM_008731:c.244C>T,p.Arg82Cys§ | Old | Missense§ | Yes | Damaging |
| Olfr1111 | G | T | NM_146593:c.20C>A,p.Thr7Asn | Old | Missense | Yes | Probably damaging |
| Pde6a | G | A | NM_146086:c.161G>A,p.Ser54Asn | Old | Missense | Yes | Benign |
| Prb1 | G | T | NM_053251:c.702C>A,p.Asp234Glu | Old | Missense | No | N/A |
| Ptprr§ | C§ | T§ | NM_011217:c.1135C>T,p.Arg379Trp§ | Old | Missense§ | Yes | Damaging |
| Rapgef1 | G | A | NM_001039086:c.2164G>A,p.Glu722Lys | Old | Missense | No | N/A |
| Rnf6 | C | T | NM_028774:c.1003G>A,p.Val335Ile | Old | Missense | No | N/A |
| Scn2a | A | C | NM_001099298:c.5480A>C,p.Asp1827Ala | Old | Missense | Yes | Benign |
| Tada1 | T | G | NM_030245:c.803T>G,p.Leu268Arg | Old | Missense | Yes | Benign |
| Tjp1 | A | G | NM_009386:c.4991T>C,p.Ile1664Thr | Old | Missense | Yes | Benign |
| Top2b§ | G§ | —§ | NM_009409:c.1487delG,p.Gly497fs§ | Old | Deletion§ | Yes | Frameshift |
| Vmn2r49 | G | A | NM_001105156:c.647C>T,p.Pro216Leu | Old | Missense | No | N/A |
| Zcwpw1 | G | A | NM_001005426:c.34G>A,p.Glu12Lys | Old | Missense | No | N/A |
| Zfp735 | G | T | NM_001126489:c.510G>T,p.Lys170Asn | Old | Missense | No | N/A |
Gene identifier, nucleotide change, amino acid change, age group, type of mutation, conservation in human sequence, and predicted functional consequences in the protein function are indicated.
—, base pair deletion; N/A, not applicable.
†
Homologous region was identified in human protein.
‡
Predicted based on Polyphen-2 tool.
§
Mutated genes with predicted damaging consequences.