|Institutional Source||Beutler Lab|
|Gene Name||V-set domain containing T cell activation inhibitor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.127)|
|Stock #||R4194 (G1)|
|Chromosomal Location||100825459-100896922 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 100888209 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 164 (E164V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057721 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054791]|
|Predicted Effect||probably damaging
AA Change: E164V
PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: E164V
|Meta Mutation Damage Score||0.2235|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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||
|Other mutations in Vtcn1||
(F):5'- GGTGTGCTGAGTCACTTCAG -3'
(R):5'- GCAATGTCGTTTTCAATCATACAGG -3'
(F):5'- CAGGCAGAACTCTGTGTAGTCTAC -3'
(R):5'- ATACAGGAGTATGTGTTGTTGATTG -3'