Arhgef5 - SNV Details



 Gene Information 
Gene Name Arhgef5
Old Gene Names for Arhgef5 Aa717842 , 2210412d05rik , Aw495314
Gene Description Rho guanine nucleotide exchange factor (GEF) 5 [Source:MGI Symbol;Acc:MGI:1858952]
MGI phenotype Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; actin cytoskeleton organization; myeloid dendritic cell chemotaxis; cytoplasm; positive regulation of Rho GTPase activity; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; regulation of Rho protein signal transduction; positive regulation of podosome assembly; plasma membrane; regulation of Rho GTPase activity; phospholipid binding
Omim http://omim.org/entry/600888
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033542
Chromosome 6
Coordinate 43,274,604     (Assembly: GRCm38)    
Ref Base T
Codon Change cTa/cCa
Var Base C
Zygosity Heterozygous
Read Depth 67
Allele Frequency
T:R0.43
C:V0.57
Amino Acid Position 763
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01761
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.42
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved