Incidental Mutation 'R8086:Nefl'
ID 629671
Institutional Source Beutler Lab
Gene Symbol Nefl
Ensembl Gene ENSMUSG00000022055
Gene Name neurofilament, light polypeptide
Synonyms NF68, NF-L, Nfl, CMT2E
MMRRC Submission 067519-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8086 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 68321312-68326544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68323480 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P08551
Predicted Effect probably damaging
Transcript: ENSMUST00000022639
AA Change: Y369H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: Y369H

DomainStartEndE-ValueType
Pfam:Filament_head 9 88 7e-14 PFAM
Filament 89 400 6.93e-139 SMART
low complexity region 448 470 N/A INTRINSIC
coiled coil region 473 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111089
SMART Domains Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054

DomainStartEndE-ValueType
Pfam:Filament_head 9 97 1.6e-16 PFAM
Pfam:Filament 98 403 1.1e-104 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.4%
Validation Efficiency 98% (51/52)
MGI Phenotype 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
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,808 (GRCm39) H372L Het
Abcb1a A T 5: 8,724,833 (GRCm39) T89S probably benign Het
Ago1 A G 4: 126,354,774 (GRCm39) V146A probably benign Het
App T C 16: 84,917,428 (GRCm39) Y72C unknown Het
Arhgap20 T C 9: 51,760,563 (GRCm39) S805P probably benign Het
Bak1 T A 17: 27,239,911 (GRCm39) R208S probably benign Het
Btnl4 A C 17: 34,692,976 (GRCm39) probably null Het
Cacng7 T C 7: 3,387,518 (GRCm39) S134P probably benign Het
Capn9 A T 8: 125,334,692 (GRCm39) probably null Het
Cox4i1 T A 8: 121,400,779 (GRCm39) M148K probably damaging Het
Ctnna1 A G 18: 35,285,713 (GRCm39) I20V possibly damaging Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnah14 C A 1: 181,593,797 (GRCm39) T3380K probably damaging Het
Dnajc3 G T 14: 119,208,192 (GRCm39) E276* probably null Het
Dock10 C A 1: 80,481,707 (GRCm39) C1772F probably benign Het
Fank1 A T 7: 133,454,959 (GRCm39) E26D possibly damaging Het
Fcgbp G T 7: 27,813,389 (GRCm39) C2308F probably damaging Het
Fyco1 A T 9: 123,659,471 (GRCm39) M235K probably damaging Het
Gm7361 C T 5: 26,465,446 (GRCm39) R148C probably damaging Het
Hinfp C T 9: 44,210,286 (GRCm39) R183Q probably damaging Het
Hpd T C 5: 123,314,252 (GRCm39) Y221C probably benign Het
Hrnr A T 3: 93,230,728 (GRCm39) H322L unknown Het
Il6st T A 13: 112,631,094 (GRCm39) probably null Het
Impa1 T C 3: 10,387,988 (GRCm39) K145E probably benign Het
Itga9 A T 9: 118,679,869 (GRCm39) M847L probably benign Het
Itgb6 A G 2: 60,480,376 (GRCm39) V320A probably damaging Het
Lrrfip1 T A 1: 91,043,630 (GRCm39) H678Q probably benign Het
Mettl16 A G 11: 74,696,091 (GRCm39) T311A probably benign Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Pkd1 A G 17: 24,800,188 (GRCm39) Y2983C probably damaging Het
Potegl A G 2: 23,130,934 (GRCm39) probably null Het
Prr5l C T 2: 101,571,709 (GRCm39) E123K probably benign Het
Ptprq A T 10: 107,482,500 (GRCm39) Y1024* probably null Het
Ramp2 T A 11: 101,138,762 (GRCm39) L147Q probably damaging Het
Rassf1 C T 9: 107,435,173 (GRCm39) R223C probably benign Het
Rcbtb2 T C 14: 73,411,305 (GRCm39) F357L probably damaging Het
Rnf24 A G 2: 131,145,468 (GRCm39) V114A probably benign Het
Slc7a1 T G 5: 148,288,899 (GRCm39) N116T probably damaging Het
Sstr2 T C 11: 113,515,998 (GRCm39) C306R probably damaging Het
Tatdn2 T C 6: 113,686,482 (GRCm39) S697P probably damaging Het
Tmem67 T A 4: 12,040,738 (GRCm39) N935I probably damaging Het
Trp73 G A 4: 154,201,052 (GRCm39) P4S unknown Het
Vmn1r237 T G 17: 21,534,509 (GRCm39) D77E possibly damaging Het
Vmn1r238 C T 18: 3,123,250 (GRCm39) A55T probably damaging Het
Vsig10l C A 7: 43,114,876 (GRCm39) A359E possibly damaging Het
Wdr24 T C 17: 26,045,101 (GRCm39) Y279H probably damaging Het
Zbtb25 A G 12: 76,395,923 (GRCm39) V433A probably benign Het
Zfp180 C A 7: 23,805,535 (GRCm39) D651E probably benign Het
Zfp979 T C 4: 147,698,004 (GRCm39) D235G probably damaging Het
Other mutations in Nefl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Nefl APN 14 68,323,931 (GRCm39) intron probably benign
IGL01755:Nefl APN 14 68,323,526 (GRCm39) missense probably damaging 1.00
IGL02825:Nefl APN 14 68,321,795 (GRCm39) missense possibly damaging 0.96
IGL03297:Nefl APN 14 68,321,673 (GRCm39) missense possibly damaging 0.55
PIT4418001:Nefl UTSW 14 68,323,979 (GRCm39) missense probably damaging 0.99
R0503:Nefl UTSW 14 68,321,432 (GRCm39) missense probably benign 0.08
R1837:Nefl UTSW 14 68,324,075 (GRCm39) missense probably damaging 1.00
R1970:Nefl UTSW 14 68,324,121 (GRCm39) missense probably benign 0.20
R4812:Nefl UTSW 14 68,321,734 (GRCm39) missense probably damaging 1.00
R4972:Nefl UTSW 14 68,324,212 (GRCm39) intron probably benign
R5361:Nefl UTSW 14 68,322,088 (GRCm39) missense probably damaging 0.99
R6357:Nefl UTSW 14 68,321,767 (GRCm39) missense probably damaging 1.00
R6499:Nefl UTSW 14 68,322,034 (GRCm39) missense probably damaging 1.00
R7571:Nefl UTSW 14 68,322,123 (GRCm39) missense probably benign 0.00
R9325:Nefl UTSW 14 68,322,460 (GRCm39) critical splice donor site probably null
R9582:Nefl UTSW 14 68,324,849 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCATTTTAGGCCAACCCCTC -3'
(R):5'- TAGGACTATTCTAGAGCACGTGG -3'

Sequencing Primer
(F):5'- CCCACCCCATTATTTTAAGGGAG -3'
(R):5'- GTGGGACTCACTATAACTGCACTG -3'
Posted On 2020-06-30