Incidental Mutation 'IGL00792:Vtcn1'
ID14823
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 #IGL00792
Quality Score
Status
Chromosome3
Chromosomal Location100825459-100896922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100888347 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
Predicted Effect probably damaging
Transcript: ENSMUST00000054791
AA Change: V210A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: V210A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,410,926 I346V probably benign Het
Actl7a A T 4: 56,743,944 Y157F possibly damaging Het
Adcy9 A G 16: 4,288,539 F904L probably damaging Het
Ap1m1 A G 8: 72,255,755 D369G possibly damaging Het
Atp23 A T 10: 126,901,100 probably null Het
Atp5h A G 11: 115,417,849 probably null Het
Btf3l4 G A 4: 108,816,859 S153L probably benign Het
Carf G T 1: 60,126,009 V117L possibly damaging Het
Cntnap1 C A 11: 101,178,966 N290K probably benign Het
Dgkb G A 12: 38,214,389 probably null Het
Dmbt1 T A 7: 131,097,607 C989S possibly damaging Het
Epb41l1 C T 2: 156,525,019 R591C probably damaging Het
Fam219a A G 4: 41,521,684 V74A probably benign Het
Frrs1 T A 3: 116,885,295 probably null Het
Gm13547 A T 2: 29,763,405 D85V probably damaging Het
Hipk1 G T 3: 103,778,160 S46R possibly damaging Het
Ifih1 T A 2: 62,645,870 R21W probably damaging Het
Ift43 A T 12: 86,140,066 Q87L probably null Het
Kcnn1 G A 8: 70,854,716 L178F probably benign Het
Kel G T 6: 41,702,012 N172K probably damaging Het
Krtap3-2 A T 11: 99,556,546 Y85* probably null Het
Lrrc49 A G 9: 60,687,838 S8P probably damaging Het
Med23 T C 10: 24,877,004 I20T possibly damaging Het
Pde4d A G 13: 109,935,395 K364E possibly damaging Het
Ppp2r3a T C 9: 101,211,301 K608E possibly damaging Het
Robo4 C T 9: 37,408,211 L586F probably damaging Het
Rprd2 A G 3: 95,785,104 S191P probably benign Het
Samhd1 A T 2: 157,120,548 H242Q probably damaging Het
Slc30a9 T A 5: 67,342,109 N283K probably damaging Het
Slc4a9 T C 18: 36,539,596 probably benign Het
Ssfa2 C T 2: 79,657,463 A630V probably benign Het
Stk36 G T 1: 74,611,117 L269F probably benign Het
Thop1 T A 10: 81,078,599 L240* probably null Het
Tmem52b T A 6: 129,516,741 S106T probably damaging Het
Ttn T A 2: 76,725,626 D30345V probably damaging Het
Zfp568 A G 7: 30,015,072 R124G probably benign Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02376:Vtcn1 APN 3 100892665 missense probably benign 0.05
IGL02833:Vtcn1 APN 3 100888385 missense probably damaging 1.00
IGL02876:Vtcn1 APN 3 100883829 missense probably damaging 0.97
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 On2012-12-06