Rapgefl1 - SNV Details



 Gene Information 
Gene Name Rapgefl1
Gene Description Rap guanine nucleotide exchange factor (GEF)-like 1 [Source:MGI Symbol;Acc:MGI:3611446]
Uniprot Name
CCDS Name
Gene GO
intracellular; small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity
Homolog in other species RAPGEFL1
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038020
Chromosome 11
Coordinate 98,847,135     (Assembly: GRCm38)    
Ref Base C
Codon Change Cac/Tac
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
C:R0.55
T:V0.45
Amino Acid Position 392
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL01487
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved