Incidental Mutation 'IGL01881:Cd3g'
ID 179028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd3g
Ensembl Gene ENSMUSG00000002033
Gene Name CD3 antigen, gamma polypeptide
Synonyms Ctg3, T3g, Ctg-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01881
Quality Score
Status
Chromosome 9
Chromosomal Location 44880870-44891729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44882566 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P11942
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: 130,047,379 (GRCm39) probably benign Het
Exoc8 T A 8: 125,623,090 (GRCm39) R426W probably damaging Het
Fam216a A G 5: 122,505,698 (GRCm39) Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3402 A T 5: 146,451,408 (GRCm39) I89F possibly damaging Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Mterf4 A G 1: 93,232,363 (GRCm39) S163P probably damaging Het
Myo7b G A 18: 32,133,320 (GRCm39) probably benign Het
Pde6b A T 5: 108,569,366 (GRCm39) M358L probably benign Het
Ppp1cb A G 5: 32,635,487 (GRCm39) I44V probably benign Het
Slitrk3 T C 3: 72,956,639 (GRCm39) E711G probably benign Het
Trappc9 A T 15: 72,871,841 (GRCm39) L492Q probably damaging Het
Tulp2 C T 7: 45,170,219 (GRCm39) R297W probably damaging Het
Other mutations in Cd3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Cd3g APN 9 44,885,459 (GRCm39) critical splice donor site probably null
IGL02750:Cd3g APN 9 44,882,608 (GRCm39) unclassified probably benign
IGL03097:Cd3g UTSW 9 44,882,061 (GRCm39) missense probably damaging 1.00
R1711:Cd3g UTSW 9 44,885,640 (GRCm39) missense probably damaging 1.00
R2076:Cd3g UTSW 9 44,885,595 (GRCm39) missense probably damaging 1.00
R3614:Cd3g UTSW 9 44,891,587 (GRCm39) missense probably benign 0.39
R4514:Cd3g UTSW 9 44,884,882 (GRCm39) missense possibly damaging 0.93
R5732:Cd3g UTSW 9 44,884,929 (GRCm39) missense possibly damaging 0.89
R6520:Cd3g UTSW 9 44,882,613 (GRCm39) splice site probably null
R7447:Cd3g UTSW 9 44,884,857 (GRCm39) missense probably damaging 1.00
R7776:Cd3g UTSW 9 44,885,459 (GRCm39) critical splice donor site probably null
R9041:Cd3g UTSW 9 44,884,818 (GRCm39) missense possibly damaging 0.93
Posted On 2014-05-07