ENU-induced TCAC>TC substitution at base pair 68,697,987 (v38) on chromosome 3, or base pair 7,344 in the GenBank genomic region NC_000069 within exon 8 out of 8 total exons. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in a frame-shift in the encoded protein. The frame-shift is predicted to result in coding of 34 aberrant amino acids after amino acid 216, and is predicted to result in loss of the original stop codon after amino acid 236. The frame-shift results in coding of a stop codon 45-base pairs within the 3-untranslated region (3-UTR) of exon 8. (J:267667)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count