ENU-induced G to A transition at base pair 8,004,284 (v38) on chromosome 9, or base pair 313 in the GenBank genomic region NC_000075 encoding Yap1. The mutation corresponds to residue 313 in the mRNA sequence NM_001171147 within exon 1 of 9 total exons. The mutation results in a glycine to aspartic acid substitution at amino acid 36 (G36D) in the YAP1 protein. (J:267549)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count