|Institutional Source||Beutler Lab|
|Gene Name||rho/rac guanine nucleotide exchange factor (GEF) 18|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8030 (G1)|
|Chromosomal Location||3393006-3456601 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 3439600 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 311 (I311F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004684 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004684]|
|Predicted Effect||probably damaging
AA Change: I311F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I311F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit greatly reduced viability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef18||
(F):5'- AATTCTCTGAGCAGTGGCC -3'
(R):5'- AGCGCCATGTGGATAGAACC -3'
(F):5'- GATGCAGCAGATCACCTTCTGTATG -3'
(R):5'- TGTGGATAGAACCCGAAACC -3'