| Primary Identifier | MGI:6286120 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Pi4ka |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3948 |
| molecularNote | ENU-induced T to C transition at base pair 17,285,281 (v38) on chromosome 16, or base pair 121,034 in the GenBank genomic region NC_000082 within the splice acceptor site of intron 44 (4-base pairs from exon 45 [out of 55 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to not affect splicing of the mRNA sequence NM_001001983. If the mutation does affect splicing, the most likely aberrant splicing result with cause skipping of the 71-base pair exon 45. The aberrant splicing would cause a frame-shifted protein product beginning after amino acid 1,691 of the protein, which is normally 2,044 amino acids in length, and termination after the inclusion of seven aberrant amino acids. |
