Nefl - SNV Details



 Human Rare Diseases 
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Severe early-onset axonal neuropathy due to NEFL deficiency
Charcot-Marie-Tooth disease type 1F

 Gene Information 
Gene Name Nefl
Old Gene Names for Nefl Ai847934 , Nfl
Gene Description neurofilament, light polypeptide [Source:MGI Symbol;Acc:MGI:97313]
MGI phenotype Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number.
Uniprot Name
CCDS Name
Gene GO
response to toxin; protein polymerization; intermediate filament; response to peptide hormone stimulus; response to organic substance; peripheral nervous system axon regeneration; intermediate filament bundle assembly; response to organic nitrogen; protein binding; neurofilament cytoskeleton organization; neuromuscular process controlling balance; neurofilament; regulation of axon diameter; positive regulation of axonogenesis; axon; intermediate filament organization; locomotion; protein domain specific binding; microtubule cytoskeleton organization; phospholipase binding; response to corticosterone stimulus; growth cone; structural molecule activity; neuron projection morphogenesis; neuron projection; negative regulation of neuron apoptotic process
Homolog in other species NEFL
Omim http://omim.org/entry/162280
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000022055
Chromosome 14
Coordinate 68,086,482     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Change Disrupted splicing
Splice Position 5
Sample ID IGL01339
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved