Incidental Mutation 'IGL01479:Tigit'
ID88553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tigit
Ensembl Gene ENSMUSG00000071552
Gene NameT cell immunoreceptor with Ig and ITIM domains
SynonymsENSMUSG00000071552, Vstm3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL01479
Quality Score
Status
Chromosome16
Chromosomal Location43648867-43664146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43659522 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 137 (T137A)
Ref Sequence ENSEMBL: ENSMUSP00000093770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096065]
Predicted Effect probably benign
Transcript: ENSMUST00000096065
AA Change: T137A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: T137A

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Tigit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Tigit APN 16 43649110 missense probably benign
IGL02896:Tigit APN 16 43662198 missense probably benign 0.40
R0446:Tigit UTSW 16 43662271 missense probably damaging 1.00
R0648:Tigit UTSW 16 43662038 missense probably damaging 0.96
R1137:Tigit UTSW 16 43649122 missense probably benign 0.40
R1423:Tigit UTSW 16 43649032 missense probably benign 0.00
R1943:Tigit UTSW 16 43649218 missense probably benign 0.00
R4900:Tigit UTSW 16 43649231 missense probably damaging 0.98
R4921:Tigit UTSW 16 43662017 missense probably damaging 1.00
R7131:Tigit UTSW 16 43662252 missense probably damaging 1.00
Posted On2013-11-18