Incidental Mutation 'IGL02085:Tigit'
ID 283516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tigit
Ensembl Gene ENSMUSG00000071552
Gene Name T cell immunoreceptor with Ig and ITIM domains
Synonyms ENSMUSG00000071552, Vstm3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02085
Quality Score
Status
Chromosome 16
Chromosomal Location 43469230-43484509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43469473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 206 (G206D)
Ref Sequence ENSEMBL: ENSMUSP00000093770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096065]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096065
AA Change: G206D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: G206D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 20 27 N/A INTRINSIC
IG 31 128 3.15e-10 SMART
transmembrane domain 140 162 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, antigen presenting cell stimuation of T cell proliferation, and susceptibility to EAE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,192,854 (GRCm39) probably null Het
Akr1c14 T A 13: 4,128,035 (GRCm39) C145* probably null Het
Arhgef26 A G 3: 62,367,145 (GRCm39) probably benign Het
Asb9 A G X: 163,318,452 (GRCm39) M215V probably benign Het
Atoh8 C A 6: 72,212,157 (GRCm39) probably benign Het
Atp6v1b1 T A 6: 83,730,897 (GRCm39) probably benign Het
Cep97 T C 16: 55,735,868 (GRCm39) E310G probably damaging Het
Ctrc C T 4: 141,571,025 (GRCm39) D72N possibly damaging Het
Dnah2 A G 11: 69,349,011 (GRCm39) I2492T probably benign Het
Emilin2 A G 17: 71,582,144 (GRCm39) V194A probably damaging Het
Epb41l5 T C 1: 119,500,586 (GRCm39) T524A probably benign Het
Fam91a1 A G 15: 58,313,505 (GRCm39) N497S possibly damaging Het
Gabpb1 A T 2: 126,481,191 (GRCm39) C319* probably null Het
Galnt10 A G 11: 57,673,104 (GRCm39) T487A probably benign Het
Hecw2 T A 1: 53,981,961 (GRCm39) probably null Het
Hmg20a C T 9: 56,384,586 (GRCm39) Q119* probably null Het
Ifi44l A G 3: 151,468,477 (GRCm39) S18P unknown Het
Immt T A 6: 71,828,820 (GRCm39) V125E probably benign Het
Ints13 T C 6: 146,451,437 (GRCm39) probably benign Het
Lrp1b C T 2: 40,779,321 (GRCm39) G2574S probably benign Het
Myoc T C 1: 162,467,343 (GRCm39) C171R probably benign Het
Ncbp1 C T 4: 46,159,699 (GRCm39) T404M probably damaging Het
Npy6r A G 18: 44,408,998 (GRCm39) N140D probably damaging Het
Nrxn2 A T 19: 6,542,898 (GRCm39) M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 (GRCm39) P851L probably benign Het
Nutm2 T A 13: 50,627,829 (GRCm39) probably null Het
Or10ak8 A G 4: 118,773,947 (GRCm39) F239S probably damaging Het
Or2g25 A G 17: 37,970,579 (GRCm39) V215A probably benign Het
Or4f61 A C 2: 111,922,869 (GRCm39) M59R probably damaging Het
Padi2 T G 4: 140,654,468 (GRCm39) Y206* probably null Het
Pcdh19 A T X: 132,582,007 (GRCm39) Y766* probably null Het
Pde12 A G 14: 26,387,619 (GRCm39) probably benign Het
Ppl C T 16: 4,907,680 (GRCm39) G872R probably benign Het
Prkag3 C T 1: 74,787,971 (GRCm39) probably benign Het
Ptgfr T C 3: 151,541,437 (GRCm39) T24A probably benign Het
Rpe65 T C 3: 159,321,283 (GRCm39) V365A probably benign Het
Shank3 T C 15: 89,388,118 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,200 (GRCm39) T642A probably benign Het
Slco6d1 C A 1: 98,371,468 (GRCm39) P275T probably damaging Het
Smarca1 G T X: 46,964,109 (GRCm39) Q343K probably damaging Het
Smoc2 A G 17: 14,567,495 (GRCm39) T180A possibly damaging Het
Tfrc G A 16: 32,440,004 (GRCm39) V406I probably benign Het
Triobp G A 15: 78,858,497 (GRCm39) probably benign Het
Trmo T C 4: 46,380,217 (GRCm39) Y384C probably damaging Het
Vmn1r89 T A 7: 12,953,465 (GRCm39) I67N probably damaging Het
Wdr17 C A 8: 55,140,771 (GRCm39) E194* probably null Het
Other mutations in Tigit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Tigit APN 16 43,479,885 (GRCm39) missense probably benign 0.00
IGL02896:Tigit APN 16 43,482,561 (GRCm39) missense probably benign 0.40
R0446:Tigit UTSW 16 43,482,634 (GRCm39) missense probably damaging 1.00
R0648:Tigit UTSW 16 43,482,401 (GRCm39) missense probably damaging 0.96
R1137:Tigit UTSW 16 43,469,485 (GRCm39) missense probably benign 0.40
R1423:Tigit UTSW 16 43,469,395 (GRCm39) missense probably benign 0.00
R1943:Tigit UTSW 16 43,469,581 (GRCm39) missense probably benign 0.00
R4900:Tigit UTSW 16 43,469,594 (GRCm39) missense probably damaging 0.98
R4921:Tigit UTSW 16 43,482,380 (GRCm39) missense probably damaging 1.00
R7131:Tigit UTSW 16 43,482,615 (GRCm39) missense probably damaging 1.00
R9135:Tigit UTSW 16 43,479,876 (GRCm39) missense possibly damaging 0.91
R9275:Tigit UTSW 16 43,479,833 (GRCm39) missense probably benign 0.13
R9427:Tigit UTSW 16 43,482,515 (GRCm39) missense probably benign 0.35
Z1176:Tigit UTSW 16 43,482,349 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16