ENU-induced G to A transition at base pair 97,101,478 (v38) on chromosome 11, or base pair 13,854 in the GenBank genomic region NC_000077 within the donor splice site of intron 3. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 122-nucleotide exon 3 (out of 6 total exons), resulting in a frame-shifted protein product beginning after amino acid 214 of the protein and premature termination after the inclusion of 20 aberrant amino acids. (J:267478)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count