|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 9|
|Synonyms||D9Ertd428e, 2610002H11Rik, 6720458D17Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4180 (G1)|
|Chromosomal Location||118606690-118901003 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 118607078 bp|
|Amino Acid Change||Tyrosine to Histidine at position 51 (Y51H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044227 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044165]|
|Predicted Effect||probably damaging
AA Change: Y51H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y51H
|Meta Mutation Damage Score||0.7923|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
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 glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga9||
(F):5'- AGTTCACCGAGGTCCAGAAC -3'
(R):5'- AGTAACTTTGCTTTGGCGAGAG -3'
(F):5'- TTAGACTCGGAGCGTACGG -3'
(R):5'- AAGCTGCGTCTGACTGC -3'