|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha 8|
|Essential gene?||Probably essential (E-score: 0.913)|
|Stock #||R0530 (G1)|
|Chromosomal Location||12106632-12301922 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 12191816 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 597 (S597P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028106 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000172791]|
AA Change: S597P
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S597P
|Meta Mutation Damage Score||0.6145|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded protein undergoes proteolytic processing to generate the disulfide-linked heterodimeric alpha subunit which, in turn associates with a beta subunit to form the functional integrin receptor. Mice lacking the encoded protein mostly die after birth due to kidney defects, but some of animals that survive exhibit defects in the sensory hair cells of the inner ear. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itga8||
(F):5'- AGGGACAGCTCTCTCCAGAGAATG -3'
(R):5'- GCCACGGCTCTAGGTGATTTCAAC -3'
(F):5'- GCTCTCTCCAGAGAATGGCAAG -3'
(R):5'- TATGTATGCCTGCTACAGCAGAC -3'