|Institutional Source||Beutler Lab|
|Gene Name||caspase recruitment domain family, member 11|
|Synonyms||CARMA1, BIMP3, 2410011D02Rik, 0610008L17Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2904 (G1)|
|Chromosomal Location||140872990-141000582 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 140889133 bp|
|Amino Acid Change||Aspartic acid to Valine at position 592 (D592V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085786]|
|Predicted Effect||probably benign
AA Change: D592V
PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: D592V
|Coding Region Coverage||
|Validation Efficiency||97% (30/31)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Card11||
(F):5'- GCTCTGCCTATAAACCACAGAG -3'
(R):5'- AGGGCAGCCTTCCTACTTCC -3'
(F):5'- ACAGAGCCAGCTTAGTCTCTG -3'
(R):5'- GGCAGCCTTCCTACTTCCTTACTTC -3'