Card11^m8Btlr

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 encodingCard11 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. (J:274940)