Card11 - SNV Details



 Human Rare Diseases 
Persistent polyclonal B-cell lymphocytosis

 Gene Information 
Gene Name Card11
Old Gene Names for Card11 0610008l17rik , 2410011d02rik
Gene Description caspase recruitment domain family, member 11 [Source:MGI Symbol;Acc:MGI:1916978]
MGI phenotype Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes.
Uniprot Name
CCDS Name
Gene GO
CARD domain binding; T cell receptor complex; positive regulation of T cell activation; positive regulation of interleukin-2 biosynthetic process; cytoplasm; thymic T cell selection; signal transduction; positive regulation of NF-kappaB transcription factor activity; positive regulation of cytokine production; intracellular; membrane raft; protein binding; regulation of B cell differentiation; positive regulation of T cell proliferation; regulation of immune response; regulation of T cell differentiation; positive regulation of B cell proliferation; positive regulation of I-kappaB kinase/NF-kappaB cascade; plasma membrane; regulation of apoptotic process; T cell costimulation
Homolog in other species CARD11
Omim http://omim.org/entry/607210
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036526
Chromosome 5
Coordinate 140,882,302     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 100
Allele Frequency
T:R0.52
C:V0.47
Amino Acid Position 864
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01731
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.64
Polyphen Prediction Possibly damaging
Sift Score 0.42
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved