|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 1|
|Synonyms||CD49A, Vla1, E130012M19Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.544)|
|Stock #||R7756 (G1)|
|Chromosomal Location||114953096-115101964 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 114992460 bp|
|Amino Acid Change||Aspartic acid to Valine at position 554 (D554V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077132 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061673]|
|Predicted Effect||probably benign
AA Change: D554V
PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: D554V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga1||
(F):5'- TCTTGCCACTGCCATGATAAATG -3'
(R):5'- CCGAGGTTCCTTTGGCATTC -3'
(F):5'- GATAAATGTACACAGCTCCTGCGTG -3'
(R):5'- TCATGTATCTTACAGGTCTGCTG -3'