Incidental Mutation 'IGL03018:Vtcn1'
ID 407948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vtcn1
Ensembl Gene ENSMUSG00000051076
Gene Name V-set domain containing T cell activation inhibitor 1
Synonyms B7-H4, B7x
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL03018
Quality Score
Status
Chromosome 3
Chromosomal Location 100732775-100804238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100791226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 88 (D88G)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
AlphaFold Q7TSP5
Predicted Effect probably damaging
Transcript: ENSMUST00000054791
AA Change: D88G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: D88G

DomainStartEndE-ValueType
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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,451 (GRCm39) V474E probably damaging Het
Cpsf6 A T 10: 117,203,861 (GRCm39) D30E probably benign Het
Dnai7 A G 6: 145,129,031 (GRCm39) F394S probably damaging Het
Edem1 T C 6: 108,806,103 (GRCm39) F135L probably damaging Het
Elf3 C T 1: 135,183,803 (GRCm39) E239K possibly damaging Het
Farp1 C T 14: 121,339,581 (GRCm39) A53V probably benign Het
Gli3 T A 13: 15,834,717 (GRCm39) L400Q probably damaging Het
Gtf2i T A 5: 134,318,189 (GRCm39) I109F possibly damaging Het
Lat2 A T 5: 134,631,445 (GRCm39) I191N probably damaging Het
Mtf1 G A 4: 124,732,456 (GRCm39) A505T probably benign Het
Naa30 G T 14: 49,410,697 (GRCm39) E208D probably benign Het
Nlrp5 T C 7: 23,117,172 (GRCm39) Y299H probably benign Het
Npc1 T A 18: 12,347,436 (GRCm39) N195Y probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Or4p21 T C 2: 88,277,163 (GRCm39) N40D probably damaging Het
Or5t16 T G 2: 86,819,349 (GRCm39) Y57S probably damaging Het
Or7g18 T C 9: 18,787,523 (GRCm39) M300T probably benign Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
Pate12 A G 9: 36,344,723 (GRCm39) T84A possibly damaging Het
Pcdh9 G A 14: 93,253,012 (GRCm39) A1217V probably null Het
Pdhb C T 14: 8,171,537 (GRCm38) probably benign Het
Pknox2 A G 9: 36,865,993 (GRCm39) Y75H probably damaging Het
Ptprn2 T C 12: 117,175,563 (GRCm39) S748P probably damaging Het
Ranbp6 A G 19: 29,788,789 (GRCm39) V521A probably damaging Het
Samd7 A G 3: 30,816,294 (GRCm39) K347E probably damaging Het
Selenom A G 11: 3,466,508 (GRCm39) D63G probably damaging Het
Sema6d T C 2: 124,501,520 (GRCm39) V487A possibly damaging Het
Tapt1 A T 5: 44,361,666 (GRCm39) M109K probably damaging Het
Trib1 T C 15: 59,526,333 (GRCm39) F301S probably damaging Het
Tspyl1 T C 10: 34,159,112 (GRCm39) V279A probably damaging Het
Ubr2 C T 17: 47,264,972 (GRCm39) V1184I possibly damaging Het
Urb1 T C 16: 90,585,044 (GRCm39) I526V probably benign Het
Yod1 T G 1: 130,646,695 (GRCm39) L191V probably benign Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Vtcn1 APN 3 100,795,663 (GRCm39) missense probably damaging 1.00
IGL02376:Vtcn1 APN 3 100,799,981 (GRCm39) missense probably benign 0.05
IGL02833:Vtcn1 APN 3 100,795,701 (GRCm39) missense probably damaging 1.00
IGL02876:Vtcn1 APN 3 100,791,145 (GRCm39) missense probably damaging 0.97
R2431:Vtcn1 UTSW 3 100,732,893 (GRCm39) missense possibly damaging 0.53
R4194:Vtcn1 UTSW 3 100,795,525 (GRCm39) missense probably damaging 0.97
R4881:Vtcn1 UTSW 3 100,799,909 (GRCm39) missense probably benign
R6916:Vtcn1 UTSW 3 100,795,479 (GRCm39) critical splice acceptor site probably null
R7147:Vtcn1 UTSW 3 100,791,210 (GRCm39) missense probably damaging 0.99
R7739:Vtcn1 UTSW 3 100,791,211 (GRCm39) missense probably damaging 1.00
R8365:Vtcn1 UTSW 3 100,791,145 (GRCm39) missense probably benign 0.15
R8395:Vtcn1 UTSW 3 100,791,070 (GRCm39) missense probably benign
R9172:Vtcn1 UTSW 3 100,799,865 (GRCm39) missense probably benign 0.00
R9236:Vtcn1 UTSW 3 100,795,533 (GRCm39) missense probably benign 0.17
Posted On 2016-08-02