|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 4|
|Is this an essential gene?||Probably non essential (E-score: 0.234)|
|Stock #||R1780 (G1)|
|Chromosomal Location||34678188-34813309 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 34724160 bp|
|Amino Acid Change||Serine to Arginine at position 832 (S832R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124213 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000159747]|
|Predicted Effect||possibly damaging
AA Change: S832R
PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S832R
|Meta Mutation Damage Score||0.0552|
|Coding Region Coverage||
|Validation Efficiency||98% (80/82)|
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'- GTCTTGGCTTCAAGCACCACAAC -3'
(R):5'- GCATCTTTGCTTCTCAGAAACGCAC -3'
(F):5'- AGTTCCAGGAACCATGCG -3'
(R):5'- CCTTTGACAGAGCCAGTATTTG -3'