|Institutional Source||Beutler Lab|
|Gene Name||vascular cell adhesion molecule 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.474)|
|Stock #||R0319 (G1)|
|Chromosomal Location||116109949-116129688 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 116116060 bp|
|Amino Acid Change||Isoleucine to Methionine at position 539 (I539M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029574 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029574]|
|Predicted Effect||probably benign
AA Change: I539M
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: I539M
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Most homozygous null mutants die by embryonic day 12.5 due to defective placenta and failure of chorion/allantois fusion, and heart developmental anomalies. Survivors are generally normal, but have high numbers of circulating blood mononuclear leukocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vcam1||
(F):5'- ACATAAAGTCACACACTGCTTACCTTGG -3'
(R):5'- TGTCTCCCCTACAGAAACATCCTGG -3'
(F):5'- CACACTGCTTACCTTGGATAATCAG -3'
(R):5'- AGAAACATCCTGGGCTGGTTATC -3'