ENU-induced C to T transition at base pair 96,140,656 (v38) on chromosome 9, or base pair 21,313 in the GenBank genomic region NC_000075. The mutation corresponds to residue 566 in the mRNA sequence NM_177352.4 within exon 5 of 17 total exons. The mutation results in substitution of glutamine 182 for a premature stop codon (Q182*) in the GK5 protein. (J:265118)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count