ENU-induced A to G transition at base pair 9,972,955 (v38) on chromosome 8, or base pair 4,711 in the GenBank genomic region NC_000074 encoding Lig4. The mutation corresponds to residue 1,146 in the mRNA sequence NM_176953 within exon 2 of 2 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at amino acid 275 (D275G) in the LIG4 protein. (J:267684)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count