Incidental Mutation 'IGL02376:Vtcn1'
ID291138
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: 0.103) question?
Stock #IGL02376
Quality Score
Status
Chromosome3
Chromosomal Location100825459-100896922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100892665 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 281 (M281L)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
Predicted Effect probably benign
Transcript: ENSMUST00000054791
AA Change: M281L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: M281L

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,984,554 probably benign Het
2700081O15Rik C T 19: 7,422,376 P496L probably damaging Het
Abtb1 A G 6: 88,838,484 probably benign Het
Adcy3 G A 12: 4,201,031 E597K possibly damaging Het
Adcy9 A G 16: 4,418,680 V289A probably benign Het
Akr1d1 A T 6: 37,530,285 D14V probably damaging Het
Ankrd12 T C 17: 66,042,529 probably benign Het
Arap3 T C 18: 37,978,453 T1137A possibly damaging Het
Arhgef4 A T 1: 34,806,059 Q77L probably damaging Het
Arhgef7 A G 8: 11,817,735 T444A probably damaging Het
Arr3 A C X: 100,614,675 K281Q probably damaging Het
Arrdc2 A T 8: 70,838,979 I114N probably benign Het
Atg2b A T 12: 105,645,468 F1217Y probably damaging Het
C1qtnf1 A C 11: 118,448,068 Y188S probably benign Het
Cbx6 C A 15: 79,828,299 R309L probably benign Het
Chrna9 T C 5: 65,971,159 S237P probably damaging Het
Dapk1 G A 13: 60,696,394 V76I probably benign Het
Elk4 T A 1: 132,014,550 N53K probably benign Het
Epha7 A C 4: 28,951,287 T799P probably damaging Het
Exosc2 G A 2: 31,679,875 V233M possibly damaging Het
Fam217b A G 2: 178,417,573 D3G probably benign Het
Farp1 T A 14: 121,272,856 N755K probably damaging Het
Fer A G 17: 63,934,346 E327G possibly damaging Het
Fmnl3 A T 15: 99,318,963 F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 I658S probably damaging Het
Gemin2 A G 12: 59,021,720 D195G probably benign Het
Gtf3c1 T A 7: 125,668,996 Y875F probably benign Het
Hnrnpr G A 4: 136,319,455 G149D probably damaging Het
Krt74 A C 15: 101,754,503 noncoding transcript Het
Ltf A G 9: 111,029,624 D480G probably benign Het
Map1b A G 13: 99,435,595 L206P probably damaging Het
Meis1 T C 11: 18,881,752 M429V probably benign Het
Myh4 C A 11: 67,245,728 T444N probably benign Het
Nckap1l A T 15: 103,471,231 Y315F possibly damaging Het
Ndst3 A G 3: 123,556,798 I646T probably damaging Het
Ndufv1 T C 19: 4,007,823 probably null Het
Ogdhl T C 14: 32,343,318 Y710H probably damaging Het
Olfr1263 A G 2: 90,015,460 I177V probably benign Het
Otud7b A G 3: 96,155,037 K531R possibly damaging Het
Pax3 T C 1: 78,132,292 Y243C probably damaging Het
Pde1a A G 2: 79,875,223 probably benign Het
Pik3cb C T 9: 99,052,352 M813I probably benign Het
Prss42 A T 9: 110,803,107 D302V possibly damaging Het
Rad52 T C 6: 119,915,230 probably benign Het
Reln A T 5: 22,080,791 Y393* probably null Het
Rhbdd3 T C 11: 5,103,192 probably benign Het
Sbf2 C T 7: 110,462,956 G138D probably damaging Het
Slco1a1 A T 6: 141,924,334 probably null Het
Smg9 A G 7: 24,415,030 I265V probably benign Het
Sppl2b G T 10: 80,867,598 E565* probably null Het
Stx6 T A 1: 155,201,979 V244D probably benign Het
Tle4 T C 19: 14,594,404 N78D probably damaging Het
Tmcc3 A G 10: 94,578,567 I44V possibly damaging Het
Tnnt3 C T 7: 142,512,558 T220I possibly damaging Het
Ttn A T 2: 76,727,467 D29798E possibly damaging Het
Zfp595 T C 13: 67,316,450 K586R possibly damaging Het
Other mutations in Vtcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Vtcn1 APN 3 100888347 missense probably damaging 1.00
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 On2015-04-16