ENU mutagenesis induced a c.2815G>T mutation, changing aspartic acid codon 939 (GAC) (p.D939Y) in exon 23 to tyrosine (TAC). The mutated residue is located in the thumb domain of the C-terminal DNA polymerase domain of the encoded peptide. (J:327432)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count