Rasa1 - SNV Details



 Human Rare Diseases 
Parkes Weber syndrome
Capillary malformation-arteriovenous malformation

 Gene Information 
Gene Name Rasa1
Gene Description RAS p21 protein activator 1 [Source:MGI Symbol;Acc:MGI:97860]
MGI phenotype Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5.
Uniprot Name
CCDS Name
Gene GO
GTPase activator activity
GTPase binding
embryo development
glycoprotein binding
intracellular
negative regulation of cell adhesion
negative regulation of cell-matrix adhesion
negative regulation of neuron apoptosis
plasma membrane
positive regulation of anti-apoptosis
protein binding
Homolog in other species RASA1
Omim http://omim.org/entry/139150
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021549
Chromosome 13
Coordinate 85,288,429     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gCg
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:0.50
G:0.50
Amino Acid Position 160
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00863
Median Base Quality 33.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved