Grlf1 - SNV Details



 Gene Information 
Gene Name Grlf1
Old Gene Names for Grlf1 6430596g11rik , Ai841135
Gene Description glucocorticoid receptor DNA binding factor 1 [Source:MGI Symbol;Acc:MGI:1929494]
MGI phenotype Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Abnormalities are seen in the retina and in the development of the brain and nervous system.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; cytoplasm; signal transduction; positive regulation of GTPase activity; regulation of cell shape; intracellular; DNA binding; small GTPase mediated signal transduction; negative regulation of vascular permeability; GTPase activator activity; nucleus; neural tube closure; GTP binding; actin cytoskeleton; forebrain development; integrin-mediated signaling pathway; camera-type eye development
Homolog in other species ARHGAP35
Omim http://omim.org/entry/605277
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058230
Chromosome 7
Coordinate 16,564,255     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.36
C:V0.64
Amino Acid Position 295
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL01922
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.52
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved