|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7693 (G1)|
|Chromosomal Location||34678188-34813309 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 34724141 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 826 (E826G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124213 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000159747]|
|Predicted Effect||probably benign
AA Change: E826G
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: E826G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef4||
(F):5'- AGTCTTGGCTTCAAGCACC -3'
(R):5'- AGCCTGGCTTTGATCTTGC -3'
(F):5'- TGGAGTTCCAGGAACCATGC -3'
(R):5'- GCCTGGCTTTGATCTTGCTTTCTG -3'