|Institutional Source||Beutler Lab|
|Gene Name||Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6|
|Synonyms||alpha-PIX, 1600028C08Rik, 1700038J06Rik, 4930592P22Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1382 (G1)|
|Chromosomal Location||57231485-57338729 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 57338562 bp|
|Amino Acid Change||Methionine to Valine at position 5 (M5V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033468 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033468]|
|Predicted Effect||probably benign
AA Change: M5V
PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
AA Change: M5V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|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 encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef6||
(F):5'- GCGAGGACTTCAAGAACTCCTCTG -3'
(R):5'- CACGAGCACTTGCTGACTTTTCTG -3'
(F):5'- CTGGATCACAGACAGTCTTTTTG -3'
(R):5'- AGAACCAGTGATGTTCTCTCAGG -3'