Incidental Mutation 'R0503:Nefl'
ID 47279
Institutional Source Beutler Lab
Gene Symbol Nefl
Ensembl Gene ENSMUSG00000022055
Gene Name neurofilament, light polypeptide
Synonyms NF68, NF-L, Nfl, CMT2E
MMRRC Submission 038698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0503 (G1)
Quality Score 166
Status Validated
Chromosome 14
Chromosomal Location 68321312-68326544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68321432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 7 (D7E)
Ref Sequence ENSEMBL: ENSMUSP00000022639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]
AlphaFold P08551
Predicted Effect probably benign
Transcript: ENSMUST00000022639
AA Change: D7E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: D7E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccdc65 G T 15: 98,607,041 (GRCm39) D83Y probably damaging Het
Cd200r2 T A 16: 44,698,325 (GRCm39) M1K probably null Het
Clca4c-ps A T 3: 144,585,583 (GRCm39) noncoding transcript Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Comp A T 8: 70,828,384 (GRCm39) N130I possibly damaging Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dspp A T 5: 104,325,122 (GRCm39) D495V unknown Het
Erich2 A T 2: 70,340,043 (GRCm39) R169S probably damaging Het
Erich2 C A 2: 70,371,119 (GRCm39) S426R unknown Het
Gab1 C T 8: 81,526,771 (GRCm39) R109H probably damaging Het
Ggcx GTCTAT GTCTATCTAT 6: 72,406,140 (GRCm39) probably null Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hmcn1 C T 1: 150,735,003 (GRCm39) V170M probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Katnb1 A G 8: 95,821,802 (GRCm39) T212A probably damaging Het
Kirrel1 A G 3: 87,005,109 (GRCm39) S80P probably benign Het
Lrrc75b T C 10: 75,389,488 (GRCm39) T81A possibly damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mmp10 A T 9: 7,507,340 (GRCm39) I387F probably damaging Het
Mphosph10 A T 7: 64,039,641 (GRCm39) C110S probably benign Het
Mpig6b A G 17: 35,283,424 (GRCm39) probably benign Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mybpc2 A G 7: 44,161,994 (GRCm39) probably benign Het
Nbea C T 3: 55,550,257 (GRCm39) G2724S possibly damaging Het
Nck2 A G 1: 43,572,728 (GRCm39) M1V probably null Het
Nktr T A 9: 121,579,806 (GRCm39) probably benign Het
Nlrp12 C T 7: 3,298,007 (GRCm39) E55K probably damaging Het
Nsun7 T A 5: 66,440,924 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Or4c109 C T 2: 88,818,322 (GRCm39) V75I probably benign Het
Or4k5 T A 14: 50,385,935 (GRCm39) Y132F probably damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Or6c2b T C 10: 128,947,671 (GRCm39) T208A probably damaging Het
Or6f2 T C 7: 139,756,354 (GRCm39) V113A possibly damaging Het
Pcdh15 A G 10: 74,046,217 (GRCm39) T165A probably damaging Het
Pikfyve A T 1: 65,259,058 (GRCm39) H410L probably damaging Het
Polr3c A T 3: 96,620,952 (GRCm39) probably null Het
Ptdss2 T A 7: 140,731,710 (GRCm39) probably benign Het
Ptprg A G 14: 12,237,138 (GRCm38) M1386V possibly damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rfx4 T A 10: 84,730,196 (GRCm39) I495K possibly damaging Het
Serpina12 C A 12: 103,997,418 (GRCm39) A368S probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Tspan11 T C 6: 127,916,075 (GRCm39) W124R probably benign Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Tyro3 T C 2: 119,633,711 (GRCm39) probably benign Het
Unc79 A G 12: 103,045,127 (GRCm39) M644V probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn2r85 T C 10: 130,258,609 (GRCm39) Y482C probably damaging Het
Zfp940 A G 7: 29,545,445 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Zkscan1 T A 5: 138,091,588 (GRCm39) I107N 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
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
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'- TCGATCACAGTCTGCGTCAGAGTC -3'
(R):5'- AGCACTTCTTCCTCATAGCGAGCC -3'

Sequencing Primer
(F):5'- TCAGAGTCCCGGCGTATAAATAG -3'
(R):5'- GCTCAGATCGAGATTCTCCAG -3'
Posted On 2013-06-12