Primary Identifier | MGI:6284794 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Klhl6 |
Inheritance Mode | Dominant | 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=3773 |
molecularNote | ENU-induced A to T transversion at base pair 19,949,447 (v38) on chromosome 16, or base pair 33,603 in the GenBank genomic region NC_000082 within the splice donor site of intron 5 (3-base pairs from exon 5). 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 site in intron 5. The mutation would result in an 85-base pair insertion of intron 5, causing a frame-shifted protein product beginning after amino acid 381 of the protein (which is normally 619 amino acids in length), and termination after the inclusion of six aberrant amino acids. |