|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 26|
|Is this an essential gene?||Probably non essential (E-score: 0.233)|
|Stock #||R8993 (G1)|
|Chromosomal Location||62338344-62462221 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 62448104 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Phenylalanine at position 699 (Y699F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079300]|
AA Change: Y699F
PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: Y699F
AA Change: Y165F
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective activation of RhoG and reduced membrane protrusion after ICAM-1 clustering. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef26||
(F):5'- GTTTTGTACTCAAGAAGTGCTCAC -3'
(R):5'- TCAGCGCCTAGTAGCATGTC -3'
(F):5'- GCTCTTTTATCTGAGACGTACTTTAG -3'
(R):5'- AGTAGCATGTCCACCTTCTCACTG -3'