Incidental Mutation 'IGL02825:Nefl'
ID 361168
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02825
Quality Score
Status
Chromosome 14
Chromosomal Location 68321312-68326544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68321795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 128 (K128N)
Ref Sequence ENSEMBL: ENSMUSP00000022639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]
AlphaFold P08551
Predicted Effect possibly damaging
Transcript: ENSMUST00000022639
AA Change: K128N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: K128N

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R 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
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
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
Posted On 2015-12-18