|Institutional Source||Beutler Lab|
|Gene Name||integrin beta 1 (fibronectin receptor beta)|
|Synonyms||Gm9863, Fnrb, CD29, 4633401G24Rik, beta1 integrin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4880 (G1)|
|Chromosomal Location||128685654-128733200 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 128716150 bp|
|Amino Acid Change||Arginine to Leucine at position 272 (R272L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087457 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090006] [ENSMUST00000124826]|
|Predicted Effect||probably damaging
AA Change: R272L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R272L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9463|
|Coding Region Coverage||
|Validation Efficiency||98% (89/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itgb1||
(F):5'- GACAGCAACATTAGCCTTGG -3'
(R):5'- GCTTTCCCAGCCATCATCAG -3'
(F):5'- TGGGACAAGAAAGACAATGATACAG -3'
(R):5'- CTCCCACATGCTCAGGATTAC -3'