ENU-induced T to C transition at base pair 34,687,538 (v38) on chromosome 11, or base pair 96,372 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 2,319 in the mRNA sequence NM_178666 within exon 22 of 52 total exons. The mutation results in a phenylalanine to serine substitution at position 746 (F746S) in the DOCK2 protein. (J:272405)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count