|Institutional Source||Beutler Lab|
|Gene Name||neurofilament, heavy polypeptide|
|Synonyms||NF-H, NEFH, NF200|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0531 (G1)|
|Chromosomal Location||4938754-4948064 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 4940240 bp|
|Amino Acid Change||Alanine to Valine at position 793 (A793V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091061 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093369]|
|Predicted Effect||probably damaging
AA Change: A793V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: A793V
|Meta Mutation Damage Score||0.166|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nefh||
(F):5'- TTGGGAGCCACCTTTTCAGAAGTC -3'
(R):5'- TGAAGCCAAATCTCCAGCTACAGTG -3'
(F):5'- AGGACTTTTCACCTGCTCAG -3'
(R):5'- gctgagcccaagtcacc -3'