Nsf - SNV Details



 Gene Information 
Gene Name Nsf
Old Gene Names for Nsf Au067812 , Ai316878 , Au020090
Gene Description N-ethylmaleimide sensitive fusion protein [Source:MGI Symbol;Acc:MGI:104560]
Uniprot Name
CCDS Name
Gene GO
dendritic shaft; syntaxin binding; cytoplasm; metal ion binding; protein transport; protein C-terminus binding; positive regulation of receptor recycling; nucleoside-triphosphatase activity; protein binding; vesicle-mediated transport; ATPase activity
coupled; PDZ domain binding; regulation of exocytosis; nucleotide binding; protein complex binding; Rab GTPase binding; ATP binding; plasma membrane; Golgi stack; potassium ion transport
Homolog in other species NSF
Omim http://omim.org/entry/601633
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000034187
Chromosome 11
Coordinate 103,861,885     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
C:R0.66
T:V0.34
Amino Acid Change Disrupted splicing
Sample ID IGL01161
Median Base Quality 37
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 

 Availability Details 
Availability