ENU mutagenesis induced a T to C transversion at base pair 45,397,697 (v38) on chromosome 8, or base pair 14,253 in the GenBank genomic region NC_000074. The mutation corresponds to residue 2,523 in the mRNA sequence NM_126166 within exon 6 of 7 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 721 (V271A) in the protein. (J:224670)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count