ENU-induced A to G transition at base pair 52,640,790 (v38) on chromosome 13, or base pair 59,535 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,775 in the mRNA sequence NM_011518 within exon 11 of 14 total exons and residue 1,771 in the mRNA sequence NM_001198977 within exon 11 of 14 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at position 520 (Y520C). (J:231803)