|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 11|
|Is this an essential gene?||Probably non essential (E-score: 0.123)|
|Stock #||R5996 (G1)|
|Chromosomal Location||62677826-62783982 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 62755673 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 557 (Y557C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034774]|
|Predicted Effect||probably benign
AA Change: Y557C
PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
AA Change: Y557C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3727|
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga11||
(F):5'- TCATCAGGATGGGTTCTGGAAG -3'
(R):5'- TAGGACAGGCAGGATCCTTC -3'
(F):5'- ATGGGTTCTGGAAGATGGAATG -3'
(R):5'- TTCCTGTAGGAGGCCATGACAG -3'