ENU mutagenesis induced a T to A transversion at base pair 3,789,908 (v38) on chromosome 4, or base pair 111,788 in the GenBank genomic region NC_000070. The mutation corresponds to residue 1,752 in the mRNA sequence NM_001111096 within exon 13 of 13 total exons and residue 1,689 in the mRNA sequence NM_010747 within exon 13 of 13 total exons. The mutation results in substitution of tyrosine 501 (Tyr501) for a premature stop codon (Tyr501*) in the Lynp56 protein and a Tyr480* in the Lynp53 protein. (J:217146)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count