Incidental Mutation 'R4921:Tigit'
ID 378638
Institutional Source Beutler Lab
Gene Symbol Tigit
Ensembl Gene ENSMUSG00000071552
Gene Name T cell immunoreceptor with Ig and ITIM domains
Synonyms ENSMUSG00000071552, Vstm3
MMRRC Submission 042523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4921 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 43648867-43664146 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43662017 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 118 (I118N)
Ref Sequence ENSEMBL: ENSMUSP00000093770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096065]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096065
AA Change: I118N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: I118N

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,737,796 (GRCm38) N65K probably benign Het
Abcc9 T C 6: 142,590,436 (GRCm38) Y1524C probably benign Het
Acap1 A G 11: 69,887,193 (GRCm38) I102T probably damaging Het
Acvr2a T C 2: 48,893,541 (GRCm38) V284A possibly damaging Het
Adam3 T C 8: 24,684,614 (GRCm38) M712V probably benign Het
Adck1 T C 12: 88,441,138 (GRCm38) V213A probably benign Het
Adgrl3 G T 5: 81,512,110 (GRCm38) W242L probably damaging Het
Alk T C 17: 71,904,315 (GRCm38) T857A probably benign Het
Alms1 A G 6: 85,628,546 (GRCm38) T2393A probably benign Het
Ank3 C T 10: 70,002,109 (GRCm38) P240L probably damaging Het
Ankrd35 C A 3: 96,684,824 (GRCm38) L809M possibly damaging Het
Birc6 T A 17: 74,650,099 (GRCm38) L3690Q probably damaging Het
Bmp3 C A 5: 98,872,061 (GRCm38) F114L probably damaging Het
Cage1 G A 13: 38,019,208 (GRCm38) H627Y probably benign Het
Cars T C 7: 143,569,475 (GRCm38) D468G probably damaging Het
Ccdc148 T C 2: 58,829,802 (GRCm38) E487G probably damaging Het
Ccdc80 A T 16: 45,118,167 (GRCm38) I746F probably damaging Het
Ccl25 A G 8: 4,353,913 (GRCm38) Q119R possibly damaging Het
Cdh24 C T 14: 54,633,215 (GRCm38) D178N probably damaging Het
Cdk12 A T 11: 98,222,687 (GRCm38) T766S unknown Het
Chst15 T A 7: 132,247,884 (GRCm38) T443S probably benign Het
Cnbp T C 6: 87,845,146 (GRCm38) D125G possibly damaging Het
Cntn2 A T 1: 132,516,032 (GRCm38) V1003E possibly damaging Het
Crct1 A G 3: 93,014,825 (GRCm38) probably benign Het
Dand5 C T 8: 84,816,484 (GRCm38) C121Y probably damaging Het
Dmkn A T 7: 30,771,233 (GRCm38) D382V probably damaging Het
Dnase2b T A 3: 146,593,441 (GRCm38) T86S probably damaging Het
Eef1akmt1 C T 14: 57,550,632 (GRCm38) V90M probably damaging Het
Egfl7 G T 2: 26,590,980 (GRCm38) W168L probably benign Het
Ep400 A G 5: 110,665,810 (GRCm38) C2908R probably damaging Het
Espl1 A G 15: 102,315,241 (GRCm38) K1076E probably damaging Het
Exoc4 A G 6: 33,910,517 (GRCm38) N747D probably benign Het
Fancm T C 12: 65,077,141 (GRCm38) V191A probably benign Het
Fbxo17 A G 7: 28,732,789 (GRCm38) D97G probably benign Het
Fer1l6 G T 15: 58,600,311 (GRCm38) probably null Het
Flt4 T C 11: 49,627,143 (GRCm38) W337R probably damaging Het
Fpr-rs7 T C 17: 20,113,820 (GRCm38) H136R possibly damaging Het
Frem3 T A 8: 80,613,136 (GRCm38) I686N possibly damaging Het
Galnt9 A G 5: 110,577,449 (GRCm38) K84R probably damaging Het
Gfm2 T A 13: 97,175,676 (GRCm38) M760K probably damaging Het
Glis3 T C 19: 28,666,104 (GRCm38) T13A probably damaging Het
Gm13078 A T 4: 143,728,326 (GRCm38) K398M possibly damaging Het
H2-K1 A G 17: 33,997,076 (GRCm38) V323A possibly damaging Het
Hbb-bs G A 7: 103,826,720 (GRCm38) A130V probably damaging Het
Herc2 T A 7: 56,229,690 (GRCm38) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,736,294 (GRCm38) R56H possibly damaging Het
Itgb4 A G 11: 116,006,605 (GRCm38) N1548S probably benign Het
Itpr3 T C 17: 27,098,005 (GRCm38) Y745H probably damaging Het
Kank3 G T 17: 33,817,200 (GRCm38) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm38) S982Y probably damaging Het
Kifc5b C T 17: 26,921,023 (GRCm38) R53W probably damaging Het
Krt39 A G 11: 99,514,749 (GRCm38) S442P possibly damaging Het
Lcat G A 8: 105,942,442 (GRCm38) P67L possibly damaging Het
Maml2 T C 9: 13,621,175 (GRCm38) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm38) R65W possibly damaging Het
Mbd3 G T 10: 80,395,576 (GRCm38) R12S probably damaging Het
Msr1 T C 8: 39,624,251 (GRCm38) E106G possibly damaging Het
Myh4 T A 11: 67,254,028 (GRCm38) L1256Q probably damaging Het
Mypn G A 10: 63,147,936 (GRCm38) T511M possibly damaging Het
Nub1 A T 5: 24,701,469 (GRCm38) N331I probably benign Het
Nup107 A G 10: 117,770,511 (GRCm38) V440A possibly damaging Het
Ofcc1 A G 13: 40,214,517 (GRCm38) F174L probably benign Het
Olfr1497 T C 19: 13,795,465 (GRCm38) I49V probably benign Het
Olfr597 A T 7: 103,320,543 (GRCm38) N44I probably damaging Het
Olfr975 A C 9: 39,950,225 (GRCm38) V182G probably damaging Het
Parp2 C A 14: 50,819,268 (GRCm38) L310I probably damaging Het
Pcdh20 A G 14: 88,469,726 (GRCm38) V46A probably benign Het
Pcdhgb6 A G 18: 37,743,472 (GRCm38) D411G probably damaging Het
Pkd1l2 A T 8: 117,072,549 (GRCm38) N267K probably damaging Het
Pkd1l2 T C 8: 117,054,885 (GRCm38) E807G probably benign Het
Rell1 C A 5: 63,936,033 (GRCm38) M126I probably damaging Het
Robo4 G A 9: 37,402,560 (GRCm38) E36K probably benign Het
Rpgrip1l T C 8: 91,261,009 (GRCm38) S807G probably benign Het
Rpl10a T C 17: 28,330,852 (GRCm38) V169A probably benign Het
Rubcn C T 16: 32,847,294 (GRCm38) V166I probably damaging Het
Sall2 T C 14: 52,315,393 (GRCm38) E113G possibly damaging Het
Sars2 T C 7: 28,752,438 (GRCm38) S423P possibly damaging Het
Scaper A G 9: 55,892,235 (GRCm38) I182T probably benign Het
Selp A G 1: 164,141,397 (GRCm38) D522G possibly damaging Het
Sema4b T A 7: 80,198,756 (GRCm38) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm38) F268I probably damaging Het
Slc14a2 G T 18: 78,192,188 (GRCm38) A258E probably damaging Het
Slc17a9 T C 2: 180,735,949 (GRCm38) Y213H probably benign Het
Slc22a7 T G 17: 46,436,933 (GRCm38) I233L probably benign Het
Slc35f1 A G 10: 53,062,602 (GRCm38) Q210R probably damaging Het
Slc6a21 A G 7: 45,288,310 (GRCm38) E350G possibly damaging Het
Spata21 A T 4: 141,112,091 (GRCm38) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm38) D1519G probably damaging Het
Tbccd1 T C 16: 22,841,899 (GRCm38) T56A probably benign Het
Tlr11 A T 14: 50,362,885 (GRCm38) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,449 (GRCm38) I9S possibly damaging Het
Unc5c T A 3: 141,788,966 (GRCm38) Y347N probably damaging Het
Unk A G 11: 116,054,945 (GRCm38) T481A probably benign Het
Vmn1r192 A C 13: 22,187,480 (GRCm38) V190G probably damaging Het
Vnn3 A T 10: 23,864,575 (GRCm38) M259L probably benign Het
Zan T C 5: 137,408,370 (GRCm38) probably benign Het
Zdhhc6 T C 19: 55,313,210 (GRCm38) H113R probably damaging Het
Other mutations in Tigit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Tigit APN 16 43,659,522 (GRCm38) missense probably benign 0.00
IGL02085:Tigit APN 16 43,649,110 (GRCm38) missense probably benign
IGL02896:Tigit APN 16 43,662,198 (GRCm38) missense probably benign 0.40
R0446:Tigit UTSW 16 43,662,271 (GRCm38) missense probably damaging 1.00
R0648:Tigit UTSW 16 43,662,038 (GRCm38) missense probably damaging 0.96
R1137:Tigit UTSW 16 43,649,122 (GRCm38) missense probably benign 0.40
R1423:Tigit UTSW 16 43,649,032 (GRCm38) missense probably benign 0.00
R1943:Tigit UTSW 16 43,649,218 (GRCm38) missense probably benign 0.00
R4900:Tigit UTSW 16 43,649,231 (GRCm38) missense probably damaging 0.98
R7131:Tigit UTSW 16 43,662,252 (GRCm38) missense probably damaging 1.00
R9135:Tigit UTSW 16 43,659,513 (GRCm38) missense possibly damaging 0.91
R9275:Tigit UTSW 16 43,659,470 (GRCm38) missense probably benign 0.13
R9427:Tigit UTSW 16 43,662,152 (GRCm38) missense probably benign 0.35
Z1176:Tigit UTSW 16 43,661,986 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-15