|Institutional Source||Beutler Lab|
|Gene Name||integrin alpha X|
|Synonyms||Cd11c, CD11C (p150) alpha polypeptide|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R3938 (G1)|
|Chromosomal Location||128129547-128150657 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 128136273 bp|
|Amino Acid Change||Arginine to Serine at position 504 (R504S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033053] [ENSMUST00000205460]|
|Predicted Effect||possibly damaging
AA Change: R504S
PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: R504S
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.008|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, decreased susceptibility to experimental autoimmune encephalomyelitis (EAE), increased T cell proliferation, and an abnormal pattern of cytokine production during EAE. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itgax||
(F):5'- ACTGACCTGGTCCTGATTGG -3'
(R):5'- AGATAGTGACTGGGCCTTACCTG -3'
(F):5'- GATTGGAGTCCCCCATTACTATGAG -3'
(R):5'- ATGTCCTGTCTTGAGGCTCCATG -3'