ENU-induced G to A transition at base pair 122,561,867 (v38) on chromosome 6, or base pair 8,059 in the GenBank genomic region NC_000072 encoding Aicda. The mutation corresponds to residue 547 in the mRNA sequence NM_009645 within exon 4 of 5 total exons. The mutation results in a valine to isoleucine substitution at residue 152 (V152I) in the AID protein. (J:265155)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count