ENU-induced G to A transition at base pair 126,920,313 (v38) on chromosome 2, or base pair 12,950 in the GenBank genomic region NC_000068 encoding the gene. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 7. Use of the cryptic splice site would result in a 54-base pair insertion in intron 7, leading to a frame-shifted protein product beginning after amino acid 281, and termination after the inclusion of 9 aberrant amino acids. (J:236688)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count