ENU-induced A to G transition at base pair 34,714,501 (v38) on chromosome 11, or base pair 69,409 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 872 in the mRNA sequence NM_178666 within exon 9 of 52 total exons. The mutation results in a lysine to glutamic acid substitution at position 264 (K264E) in the DOCK2 protein. (J:272403)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count