Cd3g - SNV Details



 Human Rare Diseases 
Combined immunodeficiency due to CD3gamma deficiency

 Gene Information 
Gene Name Cd3g
Old Gene Names for Cd3g T3g , Ctg-3 , Ctg3
Gene Description CD3 antigen, gamma polypeptide [Source:MGI Symbol;Acc:MGI:88333]
MGI phenotype Mice homozygous for a knock-out allele exhibit decreased thymocyte number and T cell response.
Uniprot Name
CCDS Name
Gene GO
alpha-beta T cell receptor complex; membrane; integral to membrane; transmembrane signaling receptor activity; protein transport; establishment or maintenance of cell polarity; protein binding; cell surface receptor signaling pathway; regulation of apoptotic process; protein heterodimerization activity
Homolog in other species CD3G
Omim http://omim.org/entry/186740
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP,MO.6C+II-.LN, B.FO.SP, B.MZ.SP, B1A.PC)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, TRACHEA, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000002033
Chromosome 9
Coordinate 44,974,161     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 17
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02624
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved