ENU-induced T to A transversion at base pair 118,972,387 (v38) on chromosome 14, or base pair 34,456 in the GenBank genomic region NC_000080 encoding Dnajc3. The mutation corresponds to residue 1,030 in the mRNA sequence NM_008929 within exon 8 of 12 total exons. The mutation results in substitution of tyrosine 291 for a premature stop codon (Y291*) in the DNAJC3 protein. (J:265248)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count