ENU-induced T to C transition at base pair 72,339,029 (v38) on chromosome 1, or base pair 31,613 in the GenBank genomic region NC_000067 encoding Xrcc5. The mutation corresponds to residue 1,309 in the mRNA sequence NM_009533 within exon 11 of 21 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 395 (Y395H) in the Ku80 protein. (J:274736)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count