Incidental Mutation 'IGL01479:Tigit'
ID 88553
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
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01479
Quality Score
Status
Chromosome 16
Chromosomal Location 43648867-43664146 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43659522 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 137 (T137A)
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: 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
R9135:Tigit UTSW 16 43659513 missense possibly damaging 0.91
R9275:Tigit UTSW 16 43659470 missense probably benign 0.13
R9427:Tigit UTSW 16 43662152 missense probably benign 0.35
Z1176:Tigit UTSW 16 43661986 missense probably damaging 0.99
Posted On 2013-11-18