Incidental Mutation 'IGL01881:Cd3g'
ID179028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd3g
Ensembl Gene ENSMUSG00000002033
Gene NameCD3 antigen, gamma polypeptide
SynonymsT3g, Ctg3, Ctg-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01881
Quality Score
Status
Chromosome9
Chromosomal Location44969572-44980431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44971268 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 160 (Y160N)
Ref Sequence ENSEMBL: ENSMUSP00000002101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002101] [ENSMUST00000160886]
PDB Structure CD3 Epsilon and gamma Ectodomain Fragment Complex in Single-Chain Construct [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000002101
AA Change: Y160N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002101
Gene: ENSMUSG00000002033
AA Change: Y160N

DomainStartEndE-ValueType
IGc2 37 94 3.51e-8 SMART
transmembrane domain 115 137 N/A INTRINSIC
ITAM 157 177 2.06e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159019
Predicted Effect probably benign
Transcript: ENSMUST00000160886
SMART Domains Protein: ENSMUSP00000125151
Gene: ENSMUSG00000002033

DomainStartEndE-ValueType
IGc2 29 86 3.51e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thymocyte number and T cell response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl A T 5: 130,018,538 probably benign Het
Exoc8 T A 8: 124,896,351 R426W probably damaging Het
Fam216a A G 5: 122,367,635 Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3402 A T 5: 146,514,598 I89F possibly damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Mterf4 A G 1: 93,304,641 S163P probably damaging Het
Myo7b G A 18: 32,000,267 probably benign Het
Pde6b A T 5: 108,421,500 M358L probably benign Het
Ppp1cb A G 5: 32,478,143 I44V probably benign Het
Slitrk3 T C 3: 73,049,306 E711G probably benign Het
Trappc9 A T 15: 72,999,992 L492Q probably damaging Het
Tulp2 C T 7: 45,520,795 R297W probably damaging Het
Other mutations in Cd3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Cd3g APN 9 44974161 critical splice donor site probably null
IGL02750:Cd3g APN 9 44971310 unclassified probably benign
IGL03097:Cd3g UTSW 9 44970763 missense probably damaging 1.00
R1711:Cd3g UTSW 9 44974342 missense probably damaging 1.00
R2076:Cd3g UTSW 9 44974297 missense probably damaging 1.00
R3614:Cd3g UTSW 9 44980289 missense probably benign 0.39
R4514:Cd3g UTSW 9 44973584 missense possibly damaging 0.93
R5732:Cd3g UTSW 9 44973631 missense possibly damaging 0.89
R6520:Cd3g UTSW 9 44971315 splice site probably null
R7447:Cd3g UTSW 9 44973559 missense probably damaging 1.00
R7776:Cd3g UTSW 9 44974161 critical splice donor site probably null
Posted On2014-05-07