Jak3 - SNV Details



 Human Rare Diseases 
Severe combined immunodeficiency T- B+ due to JAK3 deficiency

 Gene Information 
Gene Name Jak3
Gene Description Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]
MGI phenotype Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; membrane; intracellular protein kinase cascade; protein autophosphorylation; tyrosine phosphorylation of Stat5 protein; negative regulation of interleukin-10 production; positive regulation of transcription from RNA polymerase II promoter; endomembrane system; negative regulation of T-helper 1 cell differentiation; cytoplasm; response to interleukin-4; peptidyl-tyrosine phosphorylation; B cell differentiation; negative regulation of T cell activation; positive regulation of activated T cell proliferation; intracellular; elevation of cytosolic calcium ion concentration; lymph node development; positive regulation of immune response; transferase activity
transferring phosphorus-containing groups; cytokine-mediated signaling pathway; protein binding; positive regulation of T cell proliferation; response to interleukin-15; non-membrane spanning protein tyrosine kinase activity; enzyme linked receptor protein signaling pathway; cytosol; cytoskeleton; response to interleukin-2; regulation of T cell apoptotic process; response to interleukin-9; protein phosphorylation; innate immune response; T cell homeostasis; protein tyrosine kinase activity; negative regulation of dendritic cell cytokine production; ATP binding; negative regulation of FasL biosynthetic process; interleukin-4-mediated signaling pathway; negative regulation of interleukin-12 production; negative regulation of thymocyte apoptotic process; regulation of apoptotic process; positive regulation of calcium ion transport
Homolog in other species JAK3
Omim http://omim.org/entry/600173
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031805
Chromosome 8
Coordinate 71,679,012     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 57
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL00966
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved