|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha E, epithelial-associated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6244 (G1)|
|Chromosomal Location||73090583-73147446 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73145601 bp|
|Amino Acid Change||Serine to Glycine at position 1122 (S1122G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006101 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006101]|
|Predicted Effect||probably damaging
AA Change: S1122G
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: S1122G
|Meta Mutation Damage Score||0.1372|
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itgae||
(F):5'- GATCAATATGCCTGTTGTTACCAAG -3'
(R):5'- GCCAGGTTCTTTTGCCTAAAC -3'
(F):5'- ATGCCTGTTGTTACCAAGTCCTTAC -3'
(R):5'- GGGTTATACAGAGAAACCCTGTCTC -3'