Incidental Mutation 'R2431:Vtcn1'
ID 250389
Institutional Source Beutler Lab
Gene Symbol Vtcn1
Ensembl Gene ENSMUSG00000051076
Gene Name V-set domain containing T cell activation inhibitor 1
Synonyms B7x, B7-H4
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 100825459-100896922 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100825577 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 7 (I7F)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
AlphaFold Q7TSP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000054791
AA Change: I7F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: I7F

transmembrane domain 7 29 N/A INTRINSIC
IG 41 146 3.13e-5 SMART
Blast:IG_like 153 243 5e-39 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,452,404 (GRCm38) V504A probably benign Het
Atr T G 9: 95,862,892 (GRCm38) N87K probably benign Het
Auts2 A T 5: 132,259,048 (GRCm38) L32* probably null Het
Bptf A G 11: 107,047,240 (GRCm38) V2675A possibly damaging Het
Brdt C T 5: 107,378,015 (GRCm38) probably null Het
Ccdc162 T C 10: 41,569,845 (GRCm38) K444E probably benign Het
Cnot1 T C 8: 95,774,652 (GRCm38) D96G probably damaging Het
Cpq C A 15: 33,594,119 (GRCm38) Y425* probably null Het
Eri1 A G 8: 35,476,478 (GRCm38) Y221H probably damaging Het
Fbln2 A G 6: 91,269,973 (GRCm38) E1065G probably damaging Het
Focad T C 4: 88,331,027 (GRCm38) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm38) T284I probably benign Het
Isg15 C T 4: 156,200,701 (GRCm38) probably null Het
Ltbp4 T C 7: 27,319,676 (GRCm38) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm38) R332S probably benign Het
Myg1 G C 15: 102,337,736 (GRCm38) G349R probably damaging Het
Or2a25 T C 6: 42,912,012 (GRCm38) L163S probably damaging Het
Or2ag19 T C 7: 106,845,391 (GRCm38) V260A possibly damaging Het
Or5b21 T C 19: 12,862,606 (GRCm38) V277A probably damaging Het
Or7g12 A G 9: 18,988,003 (GRCm38) N5S probably damaging Het
Piezo2 T C 18: 63,245,624 (GRCm38) H78R possibly damaging Het
Pkd1l1 T C 11: 8,947,197 (GRCm38) N121D probably damaging Het
Pkhd1 T C 1: 20,201,165 (GRCm38) T3055A possibly damaging Het
Ppp5c C T 7: 17,015,425 (GRCm38) V160M probably damaging Het
Ptpn23 G A 9: 110,386,279 (GRCm38) R1438* probably null Het
Ptpro G A 6: 137,443,585 (GRCm38) W183* probably null Het
Pygm T C 19: 6,393,785 (GRCm38) M592T probably damaging Het
Qdpr A G 5: 45,444,730 (GRCm38) V68A probably damaging Het
Rfc5 A C 5: 117,385,458 (GRCm38) S92A probably damaging Het
Ripor3 T C 2: 167,989,795 (GRCm38) Q362R probably benign Het
Ror1 G A 4: 100,441,155 (GRCm38) C575Y probably damaging Het
Skint9 T A 4: 112,389,267 (GRCm38) D216V probably damaging Het
Sox6 T C 7: 115,550,007 (GRCm38) probably null Het
Ugp2 A T 11: 21,329,025 (GRCm38) V387D probably damaging Het
Umodl1 T C 17: 30,992,088 (GRCm38) S747P possibly damaging Het
Zfp507 C T 7: 35,795,402 (GRCm38) R72H probably benign Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Vtcn1 APN 3 100,888,347 (GRCm38) missense probably damaging 1.00
IGL02376:Vtcn1 APN 3 100,892,665 (GRCm38) missense probably benign 0.05
IGL02833:Vtcn1 APN 3 100,888,385 (GRCm38) missense probably damaging 1.00
IGL02876:Vtcn1 APN 3 100,883,829 (GRCm38) missense probably damaging 0.97
IGL03018:Vtcn1 APN 3 100,883,910 (GRCm38) missense probably damaging 0.98
R4194:Vtcn1 UTSW 3 100,888,209 (GRCm38) missense probably damaging 0.97
R4881:Vtcn1 UTSW 3 100,892,593 (GRCm38) missense probably benign
R6916:Vtcn1 UTSW 3 100,888,163 (GRCm38) critical splice acceptor site probably null
R7147:Vtcn1 UTSW 3 100,883,894 (GRCm38) missense probably damaging 0.99
R7739:Vtcn1 UTSW 3 100,883,895 (GRCm38) missense probably damaging 1.00
R8365:Vtcn1 UTSW 3 100,883,829 (GRCm38) missense probably benign 0.15
R8395:Vtcn1 UTSW 3 100,883,754 (GRCm38) missense probably benign
R9172:Vtcn1 UTSW 3 100,892,549 (GRCm38) missense probably benign 0.00
R9236:Vtcn1 UTSW 3 100,888,217 (GRCm38) missense probably benign 0.17
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-11-12