|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 #||R2241 (G1)|
|Chromosomal Location||79255426-79333123 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 79301013 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 575 (I575N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099718 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099972]|
|Predicted Effect||probably damaging
AA Change: I575N
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: I575N
|Coding Region Coverage||
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'- GGGACCTTTGGGATAGCGTT -3'
(R):5'- AGGTACTCATGTGACTAAATGCAA -3'
(F):5'- ACCTTTGGGATAGCGTTGAAAATG -3'
(R):5'- ATATTCAACTGAACATCCCAAAGG -3'