Incidental Mutation 'R6357:Nefl'
ID 512396
Institutional Source Beutler Lab
Gene Symbol Nefl
Ensembl Gene ENSMUSG00000022055
Gene Name neurofilament, light polypeptide
Synonyms NF68, NF-L, Nfl, CMT2E
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6357 (G1)
Quality Score 215.009
Status Not validated
Chromosome 14
Chromosomal Location 68321312-68326544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68321767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 119 (E119G)
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: E119G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: E119G

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: 100.0%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,184,591 (GRCm39) probably null Het
Aoc1l2 A G 6: 48,907,908 (GRCm39) M303V probably benign Het
Armh4 A T 14: 50,010,769 (GRCm39) S313T probably benign Het
Calcr T C 6: 3,714,710 (GRCm39) D140G probably benign Het
Card10 T C 15: 78,683,579 (GRCm39) E188G probably damaging Het
Cenpq T C 17: 41,235,418 (GRCm39) E193G probably damaging Het
Cep164 G A 9: 45,682,182 (GRCm39) L1874F probably damaging Het
Dennd3 T C 15: 73,428,321 (GRCm39) M889T possibly damaging Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dynlt2b T G 16: 32,247,873 (GRCm39) probably null Het
Eci2 A G 13: 35,177,082 (GRCm39) V26A possibly damaging Het
Eftud2 A T 11: 102,755,606 (GRCm39) N200K probably damaging Het
Eml5 T A 12: 98,837,143 (GRCm39) H357L probably damaging Het
Esam T C 9: 37,449,076 (GRCm39) *395R probably null Het
Galt C T 4: 41,757,565 (GRCm39) P246S probably benign Het
Gjb3 A T 4: 127,220,423 (GRCm39) Y36* probably null Het
Gli2 T C 1: 118,769,689 (GRCm39) E621G probably damaging Het
Gls T C 1: 52,258,665 (GRCm39) D201G probably damaging Het
Gm10801 C CGTCA 2: 98,494,152 (GRCm39) probably null Het
Gm1110 T C 9: 26,825,424 (GRCm39) probably null Het
Gm5565 T A 5: 146,097,283 (GRCm39) H13L possibly damaging Het
Hydin A C 8: 111,268,289 (GRCm39) T2923P possibly damaging Het
Kank1 A T 19: 25,388,717 (GRCm39) I797L probably benign Het
Klhdc8a A T 1: 132,230,891 (GRCm39) Q252L probably damaging Het
Kmt5c T C 7: 4,745,204 (GRCm39) F65S possibly damaging Het
Lix1 C T 17: 17,666,255 (GRCm39) P138L probably benign Het
Lnpep T C 17: 17,773,176 (GRCm39) N664S probably benign Het
Msh6 T A 17: 88,291,888 (GRCm39) Y214* probably null Het
Nptxr C A 15: 79,678,516 (GRCm39) R257L possibly damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or7e173 T A 9: 19,938,925 (GRCm39) Q103L probably damaging Het
Oxct2b A G 4: 123,010,709 (GRCm39) I210V probably benign Het
Plppr3 T A 10: 79,701,240 (GRCm39) Q534L probably benign Het
Psma1 T C 7: 113,873,602 (GRCm39) probably null Het
Rbp3 G A 14: 33,678,991 (GRCm39) A980T probably damaging Het
Ripply2 T A 9: 86,898,331 (GRCm39) S58R possibly damaging Het
Robo1 T C 16: 72,767,190 (GRCm39) V454A probably benign Het
Sacs A G 14: 61,446,273 (GRCm39) D2773G possibly damaging Het
Sirpb1b A T 3: 15,568,243 (GRCm39) V366E possibly damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Spata31f1a T A 4: 42,850,393 (GRCm39) I588F probably damaging Het
Spmap2 T C 10: 79,422,789 (GRCm39) S38G probably benign Het
Srgap2 T C 1: 131,283,280 (GRCm39) Y267C probably damaging Het
Ssc4d T C 5: 135,994,950 (GRCm39) T189A probably benign Het
Tas2r106 A G 6: 131,654,925 (GRCm39) *309Q probably null Het
Vmn2r44 T C 7: 8,373,657 (GRCm39) M511V probably benign Het
Wdfy4 G T 14: 32,823,006 (GRCm39) Y1364* probably null Het
Zbtb8a T C 4: 129,248,092 (GRCm39) H393R probably benign 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
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
R8086:Nefl UTSW 14 68,323,480 (GRCm39) missense probably damaging 0.98
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'- TCTGGCTCTTTGATGCCCAG -3'
(R):5'- GAAAGCTATCTCGTCCATCAGGC -3'

Sequencing Primer
(F):5'- AGCCTGGAGAATCTCGATCTG -3'
(R):5'- TCGTCCATCAGGCTGTCGATG -3'
Posted On 2018-04-27