|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 4|
|Synonyms||VLA-4 receptor, alpha 4 subunit|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0001 (G1)|
|Chromosomal Location||79255426-79333123 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 79326587 bp|
|Amino Acid Change||Tyrosine to Serine at position 1024 (Y1024S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099718 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099972] [ENSMUST00000156731]|
|Predicted Effect||probably damaging
AA Change: Y1024S
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: Y1024S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4525|
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga4||
(F):5'- TTCCAGAGCTAGGCAAACATGGGC -3'
(R):5'- AACAGGTCACCTCTCCGGTACATC -3'
(F):5'- AACATGGGCAAAGTTAAAAGTATTG -3'
(R):5'- TGACAAGCCACCTTTGGGTAG -3'