Incidental Mutation 'R1970:Nefl'
ID 219800
Institutional Source Beutler Lab
Gene Symbol Nefl
Ensembl Gene ENSMUSG00000022055
Gene Name neurofilament, light polypeptide
Synonyms Nfl, CMT2E, NF68, NF-L
MMRRC Submission 039983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1970 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 68083863-68089095 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 68086672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 453 (T453R)
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: T453R

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: T453R

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

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (121/125)
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: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,307,575 (GRCm38) H578Q probably benign Het
Abcc12 A G 8: 86,527,281 (GRCm38) I958T probably benign Het
Abcg5 AATCATTTG AG 17: 84,673,602 (GRCm38) probably null Het
Acap2 A G 16: 31,133,527 (GRCm38) probably null Het
Adgrb1 T C 15: 74,539,877 (GRCm38) probably benign Het
Akap6 T A 12: 52,938,475 (GRCm38) V897E probably damaging Het
Als2 A T 1: 59,215,169 (GRCm38) L343Q probably benign Het
Arhgap5 A G 12: 52,542,593 (GRCm38) I1275M probably damaging Het
Arnt C T 3: 95,448,393 (GRCm38) S16L possibly damaging Het
Bglap3 C T 3: 88,376,993 (GRCm38) probably benign Het
Blnk T C 19: 40,940,165 (GRCm38) probably benign Het
C1qtnf4 T C 2: 90,889,659 (GRCm38) M92T probably damaging Het
C77080 A G 4: 129,226,017 (GRCm38) probably benign Het
Ccdc177 G A 12: 80,758,712 (GRCm38) R263C unknown Het
Ccdc83 T A 7: 90,244,154 (GRCm38) S132C probably damaging Het
Cdc7 A G 5: 106,973,074 (GRCm38) probably benign Het
Cgnl1 T A 9: 71,725,535 (GRCm38) N178I probably benign Het
Col27a1 C T 4: 63,273,117 (GRCm38) probably benign Het
Col5a1 A T 2: 27,986,754 (GRCm38) M822L unknown Het
Coro7 T C 16: 4,633,756 (GRCm38) I451V probably benign Het
Csmd3 T C 15: 48,673,531 (GRCm38) T92A probably damaging Het
Ddc A G 11: 11,815,292 (GRCm38) V460A possibly damaging Het
Ddx4 C T 13: 112,600,013 (GRCm38) V608I probably damaging Het
Ddx60 A T 8: 61,972,206 (GRCm38) H676L possibly damaging Het
Dmtf1 T C 5: 9,148,989 (GRCm38) E48G probably benign Het
Dpf3 T A 12: 83,325,035 (GRCm38) probably null Het
Dydc2 A G 14: 41,061,903 (GRCm38) C88R probably benign Het
Elovl4 A G 9: 83,780,719 (GRCm38) Y163H probably damaging Het
Enpp2 T C 15: 54,882,982 (GRCm38) D296G probably damaging Het
Fam83h G T 15: 76,006,570 (GRCm38) probably benign Het
Fbf1 T A 11: 116,151,491 (GRCm38) Q511L possibly damaging Het
Fhdc1 A T 3: 84,454,851 (GRCm38) L323Q probably damaging Het
Fmnl2 T A 2: 53,105,576 (GRCm38) V437D possibly damaging Het
Foxo3 A G 10: 42,197,262 (GRCm38) S420P probably benign Het
Foxp4 C T 17: 47,875,871 (GRCm38) R378Q unknown Het
Garem2 G T 5: 30,117,174 (GRCm38) G844* probably null Het
Glmp T C 3: 88,327,870 (GRCm38) L269S probably damaging Het
Gm2000 T G 1: 156,366,447 (GRCm38) *124G probably null Het
Gm9915 T C 1: 42,230,721 (GRCm38) noncoding transcript Het
Gnb4 A T 3: 32,598,141 (GRCm38) D27E probably damaging Het
Gnb5 A G 9: 75,344,650 (GRCm38) probably null Het
Gpr161 T G 1: 165,306,358 (GRCm38) V63G probably damaging Het
Gsk3a T A 7: 25,229,721 (GRCm38) probably benign Het
Hapln2 T C 3: 88,024,120 (GRCm38) probably null Het
Incenp G T 19: 9,885,487 (GRCm38) T401N unknown Het
Kalrn A G 16: 33,977,524 (GRCm38) probably null Het
Kcnq3 A G 15: 66,028,623 (GRCm38) probably null Het
Kif21b T C 1: 136,171,156 (GRCm38) V1394A probably damaging Het
Klhl23 T C 2: 69,833,686 (GRCm38) C460R probably damaging Het
L3mbtl1 G A 2: 162,959,572 (GRCm38) A291T probably damaging Het
Lcp1 T C 14: 75,200,506 (GRCm38) S119P probably damaging Het
Ldhc A G 7: 46,869,751 (GRCm38) I133V probably benign Het
Lmntd2 G A 7: 141,212,059 (GRCm38) probably benign Het
Lpl A T 8: 68,896,802 (GRCm38) K327* probably null Het
Lrp1b T C 2: 40,875,069 (GRCm38) D2801G probably damaging Het
Mppe1 C A 18: 67,229,772 (GRCm38) A131S probably benign Het
Msh3 T A 13: 92,249,820 (GRCm38) probably benign Het
Msh5 A G 17: 35,033,600 (GRCm38) I377T probably damaging Het
Myo1e T C 9: 70,368,773 (GRCm38) F757L probably benign Het
Myof A T 19: 37,945,634 (GRCm38) D955E probably damaging Het
Nckap1 C T 2: 80,517,942 (GRCm38) S889N probably benign Het
Ncor2 T C 5: 125,038,918 (GRCm38) D858G probably damaging Het
Neb A T 2: 52,263,905 (GRCm38) V2398D possibly damaging Het
Nf1 A G 11: 79,553,961 (GRCm38) N371D probably benign Het
Nlrp4f T C 13: 65,194,091 (GRCm38) Y580C probably damaging Het
Nme8 A C 13: 19,652,322 (GRCm38) L228R probably damaging Het
Numa1 C T 7: 102,009,322 (GRCm38) A1605V probably damaging Het
Ofd1 T C X: 166,427,214 (GRCm38) Y205C probably benign Het
Olfr1047 T A 2: 86,228,252 (GRCm38) T240S probably damaging Het
Olfr1283 C T 2: 111,369,076 (GRCm38) S148L probably benign Het
Olfr1532-ps1 G A 7: 106,914,246 (GRCm38) G16D probably damaging Het
Olfr693 T A 7: 106,677,670 (GRCm38) N272I probably damaging Het
Olfr972 T A 9: 39,873,938 (GRCm38) I221N probably damaging Het
Pclo A G 5: 14,713,473 (GRCm38) T3987A unknown Het
Pdgfrb G A 18: 61,066,494 (GRCm38) probably benign Het
Pdxk G A 10: 78,441,154 (GRCm38) T270I probably damaging Het
Pex5 T C 6: 124,414,405 (GRCm38) E10G probably damaging Het
Pik3c2g T A 6: 139,900,386 (GRCm38) probably null Het
Pkhd1 T A 1: 20,381,523 (GRCm38) I2183F probably damaging Het
Plppr2 T C 9: 21,941,126 (GRCm38) V102A probably damaging Het
Plxnd1 T C 6: 115,962,517 (GRCm38) T1449A probably damaging Het
Pnkd T A 1: 74,285,910 (GRCm38) probably null Het
Pom121l2 A G 13: 21,983,472 (GRCm38) I638V probably damaging Het
Prag1 A G 8: 36,129,160 (GRCm38) probably null Het
Ranbp10 A G 8: 105,786,708 (GRCm38) F191L probably damaging Het
Rapgef1 T C 2: 29,733,711 (GRCm38) L824P probably damaging Het
Rec8 T C 14: 55,624,142 (GRCm38) L418P probably damaging Het
Rimbp2 T A 5: 128,797,241 (GRCm38) N429Y probably damaging Het
Rpe65 C A 3: 159,615,670 (GRCm38) T373K probably benign Het
Rrn3 T C 16: 13,789,074 (GRCm38) S151P probably damaging Het
Scn7a A G 2: 66,684,289 (GRCm38) V1047A possibly damaging Het
Scn9a G T 2: 66,515,380 (GRCm38) P1123Q probably damaging Het
Secisbp2l T C 2: 125,747,510 (GRCm38) D706G probably damaging Het
Serpina5 A T 12: 104,103,857 (GRCm38) T338S probably benign Het
Sez6 G A 11: 77,954,068 (GRCm38) probably null Het
Shisa4 C T 1: 135,372,274 (GRCm38) G157D probably damaging Het
Slc1a7 G T 4: 107,968,585 (GRCm38) D14Y probably benign Het
Slc25a11 A C 11: 70,646,173 (GRCm38) L51V probably benign Het
Slit3 A G 11: 35,630,841 (GRCm38) probably null Het
Spata13 G T 14: 60,691,463 (GRCm38) G157W probably damaging Het
Spta1 T C 1: 174,240,367 (GRCm38) V2120A possibly damaging Het
Srpr T C 9: 35,213,538 (GRCm38) probably null Het
Syt6 A G 3: 103,587,420 (GRCm38) I234V probably benign Het
Thada G T 17: 84,310,042 (GRCm38) P1349T probably damaging Het
Tmem161a C T 8: 70,176,909 (GRCm38) R58W probably damaging Het
Top3b A G 16: 16,883,519 (GRCm38) I232V probably damaging Het
Tspan1 T A 4: 116,163,629 (GRCm38) Q197L possibly damaging Het
Ttc28 A C 5: 111,235,635 (GRCm38) Y1334S probably benign Het
Ubxn6 G T 17: 56,073,077 (GRCm38) N28K possibly damaging Het
Uggt1 T C 1: 36,151,781 (GRCm38) D1366G probably damaging Het
Ugp2 A G 11: 21,328,942 (GRCm38) S415P probably damaging Het
Vcan A T 13: 89,689,038 (GRCm38) S2796T probably damaging Het
Vipr2 T C 12: 116,136,206 (GRCm38) V231A probably benign Het
Vmn1r176 T C 7: 23,834,948 (GRCm38) N260S probably benign Het
Vmn1r59 A T 7: 5,454,039 (GRCm38) Y241N probably damaging Het
Vmn2r67 A T 7: 85,151,805 (GRCm38) Y308N probably benign Het
Vmn2r75 A T 7: 86,148,262 (GRCm38) M781K probably damaging Het
Vwa3a A T 7: 120,780,171 (GRCm38) I500F probably damaging Het
Zfp609 A G 9: 65,795,277 (GRCm38) V31A probably damaging Het
Zfp689 G T 7: 127,444,787 (GRCm38) Q224K probably damaging Het
Zfp81 A T 17: 33,335,501 (GRCm38) L113H probably benign Het
Other mutations in Nefl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Nefl APN 14 68,086,482 (GRCm38) intron probably benign
IGL01755:Nefl APN 14 68,086,077 (GRCm38) missense probably damaging 1.00
IGL02825:Nefl APN 14 68,084,346 (GRCm38) missense possibly damaging 0.96
IGL03297:Nefl APN 14 68,084,224 (GRCm38) missense possibly damaging 0.55
PIT4418001:Nefl UTSW 14 68,086,530 (GRCm38) missense probably damaging 0.99
R0503:Nefl UTSW 14 68,083,983 (GRCm38) missense probably benign 0.08
R1837:Nefl UTSW 14 68,086,626 (GRCm38) missense probably damaging 1.00
R4812:Nefl UTSW 14 68,084,285 (GRCm38) missense probably damaging 1.00
R4972:Nefl UTSW 14 68,086,763 (GRCm38) intron probably benign
R5361:Nefl UTSW 14 68,084,639 (GRCm38) missense probably damaging 0.99
R6357:Nefl UTSW 14 68,084,318 (GRCm38) missense probably damaging 1.00
R6499:Nefl UTSW 14 68,084,585 (GRCm38) missense probably damaging 1.00
R7571:Nefl UTSW 14 68,084,674 (GRCm38) missense probably benign 0.00
R8086:Nefl UTSW 14 68,086,031 (GRCm38) missense probably damaging 0.98
R9325:Nefl UTSW 14 68,085,011 (GRCm38) critical splice donor site probably null
R9582:Nefl UTSW 14 68,087,400 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25