ENU mutagenesis induced a T to C transition at base pair 13,757,422 (v38) on chromosome 13, or base pair 167,091 in the GenBank genomic region NC_000079. The mutation corresponds to residue 10,815 in the mRNA sequence NM_010748.2 within exon 47 of 53 total exons. The mutation results in a phenylalanine (F) to serine (S) substitution at position 3545 (F3545S) in the protein. (J:217864)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count