ENU-induced T to C transition at base pair 72,262,076 (v38) on chromosome 11, or base pair 4,957 in the GenBank genomic region NC_000077. The mutation corresponds to residue 217 in the mRNA sequence NM_001004148 within exon 2 of 12 total exons. The mutation results in a serine (S) to proline (P) substitution at position 60 (S60P) in the protein. (J:255297)