Incidental Mutation 'IGL03297:Nefl'
ID416134
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 #IGL03297
Quality Score
Status
Chromosome14
Chromosomal Location68083863-68089095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68084224 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 88 (T88A)
Ref Sequence ENSEMBL: ENSMUSP00000022639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022639
AA Change: T88A

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: T88A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,423,426 G1624S probably damaging Het
Adhfe1 A G 1: 9,549,948 probably benign Het
Ano6 C A 15: 95,962,277 T760N probably damaging Het
Camsap2 T C 1: 136,297,801 M196V probably benign Het
Cd209d T C 8: 3,878,476 D3G possibly damaging Het
Cdh5 T A 8: 104,128,199 F253Y probably damaging Het
Cnot10 T C 9: 114,598,716 E610G possibly damaging Het
Cnot4 T C 6: 35,024,223 N579S probably benign Het
Csmd1 G T 8: 16,009,432 S2101* probably null Het
Dgkq C A 5: 108,650,274 R706L probably damaging Het
Gm5422 T C 10: 31,249,731 noncoding transcript Het
Gpr34 A G X: 13,639,442 Y70C probably damaging Het
Herc6 T A 6: 57,662,389 L914Q probably benign Het
Ifitm6 T C 7: 141,016,035 Y115C probably damaging Het
Iqcg G T 16: 33,035,632 probably benign Het
Myo15 A G 11: 60,479,141 D909G probably damaging Het
Nfatc2 T A 2: 168,536,218 N509I probably damaging Het
Nkd1 T C 8: 88,574,274 probably benign Het
Npas2 T C 1: 39,292,690 V62A possibly damaging Het
Oas2 T G 5: 120,735,085 D635A possibly damaging Het
Obscn C T 11: 59,060,886 V4014M possibly damaging Het
Ogfr C A 2: 180,594,407 H262N possibly damaging Het
Olfr433 T G 1: 174,042,117 S56A probably benign Het
Olfr913 A T 9: 38,594,525 L101F probably benign Het
Pa2g4 T C 10: 128,563,236 D104G probably damaging Het
Parp11 T C 6: 127,490,082 probably benign Het
Ppp2r5a C T 1: 191,354,762 V360I probably benign Het
Ptpn13 A T 5: 103,541,077 K912I probably benign Het
Sec16a A G 2: 26,439,190 S938P probably benign Het
Slc15a1 A C 14: 121,486,684 I170S probably damaging Het
Smchd1 T C 17: 71,349,700 N1924S probably benign Het
Sprr4 G A 3: 92,500,424 P24S unknown Het
Trim30b A T 7: 104,365,895 N95K probably benign Het
Tyw1 C T 5: 130,340,734 A687V probably damaging Het
Vmn2r14 T A 5: 109,216,107 I648F probably damaging Het
Vmn2r78 T A 7: 86,920,761 C162* probably null Het
Other mutations in Nefl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Nefl APN 14 68086482 intron probably benign
IGL01755:Nefl APN 14 68086077 missense probably damaging 1.00
IGL02825:Nefl APN 14 68084346 missense possibly damaging 0.96
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
R8086:Nefl UTSW 14 68086031 missense probably damaging 0.98
Posted On2016-08-02