ENU-induced T to A transversion at base pair 13,696,761 (v38) on chromosome 13, or base pair 106,422 in the GenBank genomic region NC_000079 for the Lyst gene. The mutation corresponds to residue 8,263 in the mRNA sequence NM_010748 within exon 30 of 53 total exons. The mutation results in substitution of tyrosine 2,694 for a premature stop codon (Y2694*) in the Lyst protein. (J:265211)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count