ENU-induced A to T transversion at base pair 135,626,611 (v38) on chromosome 3, corresponding to base pair 65,372 in the GenBank genomic region NC_000069. The mutation corresponds to residue 884 in the mRNA sequence NM_178666 within exon 7 of 25 total exons. The mutation results in substitution of lysine 128 for a premature stop codon (K128*) in the protein. (J:254822)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count