ENU-induced T to A transversion at base pair 135,612,412 (v38) on chromosome 3, corresponding to base pair 79,571 in the GenBank genomic region NC_000069 within the donor splice site of intron 12. 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 139-nucleotide exon 12 (out of 25 total exons), resulting in a frame-shifted protein product beginning after amino acid 306 of the protein and premature termination after the inclusion of 80 aberrant amino acids. (J:254821)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count