ENU mutagenesis induced a T to C transversion at base pair 107,513,280 (v38) on chromosome 9, or base pair 113,401 in the GenBank genomic region NC_000075. The mutation corresponds to residue 1,139 in the mRNA sequence NM_001174047 within exon 10 of 39 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 317 (V317A) in all protein variants. (J:224663)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count