|Institutional Source||Beutler Lab|
|Gene Name||neurofilament, light polypeptide|
|Synonyms||Nfl, CMT2E, NF68, NF-L|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8086 (G1)|
|Chromosomal Location||68083863-68089095 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 68086031 bp|
|Amino Acid Change||Tyrosine to Histidine at position 369 (Y369H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022639 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]|
|Predicted Effect||probably damaging
AA Change: Y369H
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Y369H
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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 they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nefl||
(F):5'- GCATTTTAGGCCAACCCCTC -3'
(R):5'- TAGGACTATTCTAGAGCACGTGG -3'
(F):5'- CCCACCCCATTATTTTAAGGGAG -3'
(R):5'- GTGGGACTCACTATAACTGCACTG -3'