Incidental Mutation 'IGL00792:Vtcn1'
ID 14823
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 # IGL00792
Quality Score
Status
Chromosome 3
Chromosomal Location 100732775-100804238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100795663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
AlphaFold Q7TSP5
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: 14,228,790 (GRCm39) I346V probably benign Het
Actl7a A T 4: 56,743,944 (GRCm39) Y157F possibly damaging Het
Adcy9 A G 16: 4,106,403 (GRCm39) F904L probably damaging Het
Ap1m1 A G 8: 73,009,599 (GRCm39) D369G possibly damaging Het
Atp23 A T 10: 126,736,969 (GRCm39) probably null Het
Atp5pd A G 11: 115,308,675 (GRCm39) probably null Het
Btf3l4 G A 4: 108,674,056 (GRCm39) S153L probably benign Het
Carf G T 1: 60,165,168 (GRCm39) V117L possibly damaging Het
Cntnap1 C A 11: 101,069,792 (GRCm39) N290K probably benign Het
Dgkb G A 12: 38,264,388 (GRCm39) probably null Het
Dmbt1 T A 7: 130,699,337 (GRCm39) C989S possibly damaging Het
Epb41l1 C T 2: 156,366,939 (GRCm39) R591C probably damaging Het
Fam219a A G 4: 41,521,684 (GRCm39) V74A probably benign Het
Frrs1 T A 3: 116,678,944 (GRCm39) probably null Het
Gm13547 A T 2: 29,653,417 (GRCm39) D85V probably damaging Het
Hipk1 G T 3: 103,685,476 (GRCm39) S46R possibly damaging Het
Ifih1 T A 2: 62,476,214 (GRCm39) R21W probably damaging Het
Ift43 A T 12: 86,186,840 (GRCm39) Q87L probably null Het
Itprid2 C T 2: 79,487,807 (GRCm39) A630V probably benign Het
Kcnn1 G A 8: 71,307,360 (GRCm39) L178F probably benign Het
Kel G T 6: 41,678,946 (GRCm39) N172K probably damaging Het
Krtap3-2 A T 11: 99,447,372 (GRCm39) Y85* probably null Het
Lrrc49 A G 9: 60,595,121 (GRCm39) S8P probably damaging Het
Med23 T C 10: 24,752,902 (GRCm39) I20T possibly damaging Het
Pde4d A G 13: 110,071,929 (GRCm39) K364E possibly damaging Het
Ppp2r3d T C 9: 101,088,500 (GRCm39) K608E possibly damaging Het
Robo4 C T 9: 37,319,507 (GRCm39) L586F probably damaging Het
Rprd2 A G 3: 95,692,416 (GRCm39) S191P probably benign Het
Samhd1 A T 2: 156,962,468 (GRCm39) H242Q probably damaging Het
Slc30a9 T A 5: 67,499,452 (GRCm39) N283K probably damaging Het
Slc4a9 T C 18: 36,672,649 (GRCm39) probably benign Het
Stk36 G T 1: 74,650,276 (GRCm39) L269F probably benign Het
Thop1 T A 10: 80,914,433 (GRCm39) L240* probably null Het
Tmem52b T A 6: 129,493,704 (GRCm39) S106T probably damaging Het
Ttn T A 2: 76,555,970 (GRCm39) D30345V probably damaging Het
Zfp568 A G 7: 29,714,497 (GRCm39) R124G probably benign Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03018:Vtcn1 APN 3 100,791,226 (GRCm39) missense probably damaging 0.98
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 2012-12-06