ENU mutagenesis induced a T to C transition at base pair 46,409,692 (v38) on chromosome 17, or base pair 26,191 in the GenBank genomic region NC_000083 encoding Zfp318. The mutation corresponds to residue 3,428 in the mRNA sequence NM_207671 within exon 8 of 10 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 1119 (Y1119H) in the long isoform of the ZFP318 protein. (J:218965)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count