Primary Identifier | MGI:6305368 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Card11 |
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=2583 |
molecularNote | G to T (or C>A on the reverse (gene) strand) substitution at base pair 140,883,782 (v38) on chromosome 5, or base pair 116,815 in the GenBank genomic region NC_000071 encoding Card11 within intron 17. 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 splice acceptor site in intron 17. Use of a cryptic site in intron 17 would result in the addition of 10 base pairs to the 5' end of exon 18, leading to a frame-shifted protein product beginning after amino acid 756 of the protein, which is normally 1,154 amino acids in length, and terminating after the inclusion of 44 aberrant amino acids. |