ENU-induced T to A transversion at base pair 79,729,113 (v38) on chromosome 10, or base pair 12,480 in the GenBank genomic region NC_000076 within the splice donor site of intron 4 (2-base pairs from exon 4 out of 8 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic splice site in intron 4. The resulting transcript would have a 90-base pair insertion of intron 4, which would cause an in-frame insertion of 30 aberrant amino acids after amino acid 452 of the protein (which is normally 863 amino acids long). (J:274859)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count