Incidental Mutation 'R8395:Vtcn1'
ID 647557
Institutional Source Beutler Lab
Gene Symbol Vtcn1
Ensembl Gene ENSMUSG00000051076
Gene Name V-set domain containing T cell activation inhibitor 1
Synonyms B7-H4, B7x
MMRRC Submission 067759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R8395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 100732775-100804238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100791070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 36 (F36S)
Ref Sequence ENSEMBL: ENSMUSP00000057721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054791]
AlphaFold Q7TSP5
Predicted Effect probably benign
Transcript: ENSMUST00000054791
AA Change: F36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: F36S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,280 (GRCm39) E352G possibly damaging Het
Ascc3 T C 10: 50,525,400 (GRCm39) F532L possibly damaging Het
Bckdk G A 7: 127,507,139 (GRCm39) V328I probably benign Het
Cenpu T C 8: 47,007,084 (GRCm39) Y26H probably benign Het
Clk3 A T 9: 57,672,445 (GRCm39) V119E probably benign Het
Cnn2 A G 10: 79,828,293 (GRCm39) N90S probably benign Het
Dlk2 T C 17: 46,611,969 (GRCm39) I78T probably damaging Het
Ercc8 G T 13: 108,323,788 (GRCm39) E367* probably null Het
Gbp9 A T 5: 105,228,069 (GRCm39) I571K probably damaging Het
Gm3404 T C 5: 146,462,724 (GRCm39) I29T possibly damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Heatr5a A G 12: 51,962,961 (GRCm39) S74P Het
Htr6 T G 4: 138,789,078 (GRCm39) M326L possibly damaging Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Ippk A G 13: 49,615,096 (GRCm39) E493G probably damaging Het
Kiz A G 2: 146,794,949 (GRCm39) N603S possibly damaging Het
Limch1 A T 5: 67,126,394 (GRCm39) K7N probably damaging Het
Lrp1b C T 2: 40,547,411 (GRCm39) C4257Y Het
Map4k5 C G 12: 69,877,203 (GRCm39) R381T probably null Het
Map9 A G 3: 82,289,276 (GRCm39) I455V probably benign Het
Mpped1 T C 15: 83,684,257 (GRCm39) V93A probably damaging Het
Myh10 T C 11: 68,682,842 (GRCm39) L1129P probably damaging Het
Neb T A 2: 52,065,645 (GRCm39) M6196L probably benign Het
Neb C A 2: 52,147,806 (GRCm39) V2738F probably damaging Het
Or10ad1 A G 15: 98,105,500 (GRCm39) V255A probably benign Het
Or8k18 G A 2: 86,085,878 (GRCm39) S53F possibly damaging Het
Sgf29 T A 7: 126,271,837 (GRCm39) C287* probably null Het
Siglece A G 7: 43,305,523 (GRCm39) V398A probably benign Het
Slc43a1 T C 2: 84,671,266 (GRCm39) L67P probably damaging Het
Slco2a1 A G 9: 102,954,239 (GRCm39) H470R probably benign Het
Spata31d1e A G 13: 59,889,540 (GRCm39) V760A probably benign Het
Syngr1 T C 15: 79,997,445 (GRCm39) S188P probably benign Het
Trpm4 T C 7: 44,958,634 (GRCm39) D885G probably benign Het
Ubd A T 17: 37,506,249 (GRCm39) Q45L probably damaging Het
Unc45a A T 7: 79,976,080 (GRCm39) C800S probably benign Het
Vmn2r112 A G 17: 22,837,587 (GRCm39) T683A possibly damaging Het
Vmn2r25 T A 6: 123,799,982 (GRCm39) T787S possibly damaging Het
Vmn2r85 G A 10: 130,261,797 (GRCm39) P180L probably damaging Het
Wdr86 A G 5: 24,935,187 (GRCm39) L52P probably damaging Het
Xpo4 A T 14: 57,885,924 (GRCm39) S43T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGTACCAACATTTCTTCCTGC -3'
(R):5'- GCATTGCCAACTACCACCTG -3'

Sequencing Primer
(F):5'- GCTCTTTCTAGTCTTTCCAGTCATG -3'
(R):5'- AACATCTCATGCTGCTGTGAGAG -3'
Posted On 2020-09-02