|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha E, epithelial-associated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1534 (G1)|
|Chromosomal Location||73090583-73147446 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 73145605 bp|
|Amino Acid Change||Isoleucine to Threonine at position 1123 (I1123T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006101 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006101]|
|Predicted Effect||possibly damaging
AA Change: I1123T
PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: I1123T
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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'- AGCTTCTTGCCAGATGTCATCAGTC -3'
(R):5'- CTTGCCAGGTTCTTTTGCCTAAACAG -3'
(F):5'- GCCTGTTGTTACCAAGTCCTTAC -3'
(R):5'- aaagagagagagagagggagag -3'