ENU-induced T to C transition at base pair 78,564,934 (v38) on chromosome 15, or base pair 7,850 in the GenBank genomic region NC_000081. The mutation corresponds to residue 515 in the mRNA sequence NM_009008 within exon 5 of 7 total exons. The mutation results in an isoleucine to threonine substitution at position 126 (I126T) in the protein.