ENU-induced T to C transition at base pair 165,063,563 (v38) on chromosome 2, or base pair 7,956 in the GenBank genomic region NC_000068 within the donor splice site of intron 5. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in the use of a cryptic site in intron 5. The resulting transcript would have a 34-nucleotide insertion of intron 5, which would cause a frame shifted protein product beginning after amino acid 165 of the protein, which is normally 289 amino acids in length, and premature termination after the inclusion of 13 aberrant amino acids. (J:254828)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count