Incidental Mutation 'IGL02876:Vtcn1'
ID406228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vtcn1
Ensembl Gene ENSMUSG00000051076
Gene NameV-set domain containing T cell activation inhibitor 1
SynonymsB7x, B7-H4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02876
Quality Score
Status
Chromosome3
Chromosomal Location100825459-100896922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100883829 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 61 (D61V)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
Predicted Effect probably damaging
Transcript: ENSMUST00000054791
AA Change: D61V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: D61V

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,919,841 V564A probably damaging Het
Adamts15 A T 9: 30,904,522 N679K probably damaging Het
Angpt1 T G 15: 42,426,977 D497A possibly damaging Het
Asap2 A G 12: 21,258,163 K849R probably benign Het
Aspm T C 1: 139,473,653 V1137A probably damaging Het
Atp12a A G 14: 56,373,289 I297V probably benign Het
Atp2a2 A G 5: 122,466,008 V454A probably benign Het
Carmil1 T A 13: 24,154,668 probably benign Het
Csmd2 A T 4: 128,321,335 K517* probably null Het
Csmd3 A T 15: 47,606,096 probably benign Het
Cyp2d11 T A 15: 82,389,496 Q427L possibly damaging Het
Eml5 C T 12: 98,858,841 V706M probably damaging Het
Entpd8 A C 2: 25,085,060 S428R probably benign Het
Gm10283 T C 8: 60,501,219 probably benign Het
Gm13124 A G 4: 144,555,773 Y150H probably damaging Het
Gpatch3 T A 4: 133,580,684 V363E probably damaging Het
Hoxb5 T A 11: 96,303,768 M52K probably damaging Het
Ift52 T C 2: 163,036,707 V307A probably benign Het
Igkv1-115 T C 6: 68,161,440 noncoding transcript Het
Kdm5a T C 6: 120,390,644 probably benign Het
Lama1 T A 17: 67,750,692 probably null Het
Lrp6 G A 6: 134,456,114 P1418L probably benign Het
Mill2 T C 7: 18,856,507 F156L probably damaging Het
Mnat1 A G 12: 73,170,604 R85G probably damaging Het
Myrip A T 9: 120,432,674 D451V probably damaging Het
Olfr397 A T 11: 73,964,713 Y35F possibly damaging Het
Pdzph1 C A 17: 58,974,069 S406I probably benign Het
Ptprb A G 10: 116,348,211 probably benign Het
Rxfp4 T A 3: 88,652,435 R236S possibly damaging Het
Ryr2 T C 13: 11,707,793 M2604V probably benign Het
Setd1a G A 7: 127,778,501 probably benign Het
Spata33 A T 8: 123,221,980 H88L probably damaging Het
Spcs3 A T 8: 54,526,451 N98K probably damaging Het
Srgap3 A G 6: 112,771,453 S413P probably damaging Het
Stap2 T C 17: 55,999,961 R239G probably benign Het
Surf6 A G 2: 26,892,626 Y230H probably damaging Het
Tasp1 C T 2: 139,834,363 V382M probably benign Het
Tnc G T 4: 64,015,101 A642E possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r110 T A 17: 20,574,296 T704S probably damaging Het
Zc3h12d G A 10: 7,862,600 M223I probably damaging Het
Zfp592 T A 7: 81,038,127 S934T probably benign Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Vtcn1 APN 3 100888347 missense probably damaging 1.00
IGL02376:Vtcn1 APN 3 100892665 missense probably benign 0.05
IGL02833:Vtcn1 APN 3 100888385 missense probably damaging 1.00
IGL03018:Vtcn1 APN 3 100883910 missense probably damaging 0.98
R2431:Vtcn1 UTSW 3 100825577 missense possibly damaging 0.53
R4194:Vtcn1 UTSW 3 100888209 missense probably damaging 0.97
R4881:Vtcn1 UTSW 3 100892593 missense probably benign
R6916:Vtcn1 UTSW 3 100888163 critical splice acceptor site probably null
R7147:Vtcn1 UTSW 3 100883894 missense probably damaging 0.99
R7739:Vtcn1 UTSW 3 100883895 missense probably damaging 1.00
Posted On2016-08-02