|Institutional Source||Beutler Lab|
|Gene Name||V-set and immunoglobulin domain containing 1|
|Is this an essential gene?||Probably non essential (E-score: 0.078)|
|Stock #||R8041 (G1)|
|Chromosomal Location||140907608-140939472 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 140933126 bp|
|Amino Acid Change||Histidine to Tyrosine at position 232 (H232Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033806 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033806]|
|Predicted Effect||probably benign
AA Change: H232Y
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: H232Y
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male chimeras hemizygous for a knock-out allele exhibit abnormal differentiation of gastric epithelia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vsig1||
(F):5'- GGTTGGAGTTAAGCAATGTAAACTG -3'
(R):5'- TCCTAGACTGTTAGTAACACCACTG -3'
(F):5'- AGTTAAGCAATGTAAACTGAGATGAC -3'
(R):5'- GCCTACTTTCTAATGATTGTGATGC -3'