Smcr8^m3Btlr

A C to T transition at base pair 60,779,870 (v38) on chromosome 11, or base pair 2,346 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 2,346 (c.2346C>T) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in substitution of glutamine 615 for a premature stop codon (Q615*) in the SMCR8 protein (p.Q615*). (J:268243)