Incidental Mutation 'IGL01755:Nefl'
ID153195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nefl
Ensembl Gene ENSMUSG00000022055
Gene Nameneurofilament, light polypeptide
SynonymsNfl, CMT2E, NF68, NF-L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01755
Quality Score
Status
Chromosome14
Chromosomal Location68083863-68089095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68086077 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 384 (D384G)
Ref Sequence ENSEMBL: ENSMUSP00000022639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]
Predicted Effect probably damaging
Transcript: ENSMUST00000022639
AA Change: D384G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: D384G

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T A 17: 33,066,977 N284Y probably damaging Het
Atf6 A G 1: 170,788,611 I520T possibly damaging Het
Azgp1 A T 5: 137,989,847 K297M possibly damaging Het
Cyp2e1 A G 7: 140,774,556 probably null Het
Dapk1 T A 13: 60,761,176 L1201Q possibly damaging Het
Dapk1 C A 13: 60,761,175 L1201M probably damaging Het
Insrr A T 3: 87,814,186 D1133V probably damaging Het
Kcnc4 T C 3: 107,448,175 N319S probably damaging Het
Kctd1 A G 18: 15,062,637 C310R possibly damaging Het
Nfatc3 A G 8: 106,127,921 N1029S probably benign Het
Nup107 T C 10: 117,774,493 Y348C probably damaging Het
Olfr1151 T A 2: 87,857,510 C112S possibly damaging Het
Olfr1472 T C 19: 13,453,815 K234R probably damaging Het
Phldb2 T C 16: 45,825,582 E212G probably damaging Het
Pirb A T 7: 3,717,170 N401K probably benign Het
Plcg2 T C 8: 117,621,241 F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 N11K probably damaging Het
Slc7a11 A G 3: 50,424,067 Y241H probably benign Het
Sltm T G 9: 70,583,922 probably null Het
Taf4b A G 18: 14,897,985 T809A probably benign Het
Taf4b C A 18: 14,897,986 T809N probably benign Het
Tesk1 T C 4: 43,445,820 probably null Het
Tspan8 C T 10: 115,835,298 T120M probably damaging Het
Ttn T G 2: 76,721,383 D31275A probably damaging Het
Vcl C A 14: 20,995,970 Q334K probably damaging Het
Zfp94 G A 7: 24,311,481 probably benign Het
Zkscan17 A G 11: 59,487,415 F314S probably damaging Het
Other mutations in Nefl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Nefl APN 14 68086482 intron probably benign
IGL02825:Nefl APN 14 68084346 missense possibly damaging 0.96
IGL03297:Nefl APN 14 68084224 missense possibly damaging 0.55
PIT4418001:Nefl UTSW 14 68086530 missense probably damaging 0.99
R0503:Nefl UTSW 14 68083983 missense probably benign 0.08
R1837:Nefl UTSW 14 68086626 missense probably damaging 1.00
R1970:Nefl UTSW 14 68086672 missense probably benign 0.20
R4812:Nefl UTSW 14 68084285 missense probably damaging 1.00
R4972:Nefl UTSW 14 68086763 intron probably benign
R5361:Nefl UTSW 14 68084639 missense probably damaging 0.99
R6357:Nefl UTSW 14 68084318 missense probably damaging 1.00
R6499:Nefl UTSW 14 68084585 missense probably damaging 1.00
R7571:Nefl UTSW 14 68084674 missense probably benign 0.00
Posted On2014-02-04