ENU-induced A to G transition at base pair 20,530,942 (v38) on chromosome 14, or base pair 15,632 in the GenBank genomic region NC_000080. The mutation is within the donor splice site of intron 3, two base pairs from exon 3 (out of 14 total exons). The mutation is predicted to result in use of a cryptic splice site in intron 3, resulting in a 67-base pair insertion of intron 3. The insertion would result in a frame-shifted protein product beginning after amino acid 137 of the protein, which is normally 525 amino acids in length, and terminating after the inclusion of seven aberrant amino acids. (J:236670)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count