Fig4 - SNV Details



 Human Rare Diseases 
Charcot-Marie-Tooth disease type 4J
Primary lateral sclerosis
Amyotrophic lateral sclerosis

 Gene Information 
Gene Name Fig4
Old Gene Names for Fig4 A530089i17rik , Ai326867
Gene Description FIG4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143585]
MGI phenotype Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.
Uniprot Name
CCDS Name
Gene GO
negative regulation of myelination; neuron development; cell death; endosome membrane; phosphatidylinositol metabolic process; myelin assembly; positive regulation of neuron projection development; phosphoric ester hydrolase activity; endoplasmic reticulum; protein binding; pigmentation; phosphatidylinositol bisphosphate phosphatase activity; phosphatidylinositol-3-phosphatase activity; locomotory behavior; phosphatidylinositol-4-phosphate phosphatase activity; recycling endosome; vacuole organization; Golgi apparatus
Homolog in other species FIG4
Omim http://omim.org/entry/609390
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000038417
Chromosome 10
Coordinate 41,232,102     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 79
Allele Frequency
C:R0.67
A:V0.33
Amino Acid Change Disrupted splicing
Splice Position 5
Sample ID IGL01966
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved