Incidental Mutation 'R0041:Nefh'
ID 201497
Institutional Source Beutler Lab
Gene Symbol Nefh
Ensembl Gene ENSMUSG00000020396
Gene Name neurofilament, heavy polypeptide
Synonyms NF200, NF-H, NEFH
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0041 (G1)
Quality Score 72
Status Validated
Chromosome 11
Chromosomal Location 4888754-4898064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4895184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 335 (S335N)
Ref Sequence ENSEMBL: ENSMUSP00000091061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093369]
AlphaFold P19246
Predicted Effect possibly damaging
Transcript: ENSMUST00000093369
AA Change: S335N

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S335N

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
low complexity region 49 64 N/A INTRINSIC
Filament 94 410 1.45e-109 SMART
low complexity region 470 515 N/A INTRINSIC
Pfam:DUF1388 519 545 1.8e-14 PFAM
Pfam:DUF1388 536 562 5.8e-15 PFAM
Pfam:DUF1388 542 569 2.7e-12 PFAM
Pfam:DUF1388 578 611 9.7e-10 PFAM
Pfam:DUF1388 602 629 4.9e-14 PFAM
Pfam:DUF1388 608 635 4.7e-14 PFAM
Pfam:DUF1388 626 653 1.4e-13 PFAM
Pfam:DUF1388 632 659 2.5e-13 PFAM
Pfam:DUF1388 656 683 4.4e-14 PFAM
Pfam:DUF1388 680 706 1.5e-12 PFAM
Pfam:DUF1388 700 730 5e-12 PFAM
Pfam:DUF1388 728 755 7.9e-14 PFAM
Pfam:DUF1388 752 779 4.7e-14 PFAM
Pfam:DUF1388 779 800 1.9e-9 PFAM
low complexity region 816 829 N/A INTRINSIC
low complexity region 858 948 N/A INTRINSIC
low complexity region 949 968 N/A INTRINSIC
low complexity region 976 1039 N/A INTRINSIC
Meta Mutation Damage Score 0.1139 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
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 functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Ltf T A 9: 110,858,636 (GRCm39) D461E possibly damaging Het
Mapk4 A T 18: 74,068,109 (GRCm39) L274Q probably damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rnf220 A G 4: 117,130,481 (GRCm39) L293P probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null Het
Other mutations in Nefh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02931:Nefh APN 11 4,891,356 (GRCm39) missense possibly damaging 0.71
IGL03025:Nefh APN 11 4,895,289 (GRCm39) missense probably damaging 0.99
FR4340:Nefh UTSW 11 4,891,040 (GRCm39) small insertion probably benign
FR4340:Nefh UTSW 11 4,891,038 (GRCm39) small insertion probably benign
FR4340:Nefh UTSW 11 4,891,033 (GRCm39) small insertion probably benign
R0149:Nefh UTSW 11 4,890,799 (GRCm39) missense probably benign 0.39
R0361:Nefh UTSW 11 4,890,799 (GRCm39) missense probably benign 0.39
R0531:Nefh UTSW 11 4,890,240 (GRCm39) missense probably damaging 1.00
R1340:Nefh UTSW 11 4,891,002 (GRCm39) small insertion probably benign
R1349:Nefh UTSW 11 4,891,010 (GRCm39) small insertion probably benign
R1469:Nefh UTSW 11 4,890,066 (GRCm39) missense probably benign 0.20
R1469:Nefh UTSW 11 4,890,066 (GRCm39) missense probably benign 0.20
R1564:Nefh UTSW 11 4,889,878 (GRCm39) missense unknown
R2165:Nefh UTSW 11 4,893,872 (GRCm39) missense probably damaging 1.00
R2417:Nefh UTSW 11 4,889,479 (GRCm39) missense unknown
R2906:Nefh UTSW 11 4,890,216 (GRCm39) missense probably benign 0.15
R3750:Nefh UTSW 11 4,889,937 (GRCm39) missense probably benign 0.33
R4298:Nefh UTSW 11 4,890,066 (GRCm39) missense probably benign
R4462:Nefh UTSW 11 4,891,015 (GRCm39) missense probably damaging 0.98
R4713:Nefh UTSW 11 4,889,656 (GRCm39) missense unknown
R4878:Nefh UTSW 11 4,891,333 (GRCm39) missense probably damaging 0.98
R5423:Nefh UTSW 11 4,890,985 (GRCm39) missense possibly damaging 0.59
R5648:Nefh UTSW 11 4,895,233 (GRCm39) missense probably damaging 1.00
R5893:Nefh UTSW 11 4,891,323 (GRCm39) missense probably damaging 1.00
R6459:Nefh UTSW 11 4,889,551 (GRCm39) missense unknown
R7583:Nefh UTSW 11 4,891,089 (GRCm39) missense probably damaging 0.96
R8557:Nefh UTSW 11 4,891,233 (GRCm39) missense probably damaging 0.98
R8925:Nefh UTSW 11 4,890,530 (GRCm39) small deletion probably benign
R8982:Nefh UTSW 11 4,897,549 (GRCm39) missense probably damaging 1.00
R9101:Nefh UTSW 11 4,890,925 (GRCm39) missense probably damaging 0.97
R9291:Nefh UTSW 11 4,890,871 (GRCm39) missense probably benign 0.39
R9576:Nefh UTSW 11 4,891,222 (GRCm39) missense possibly damaging 0.91
R9616:Nefh UTSW 11 4,889,443 (GRCm39) nonsense probably null
R9709:Nefh UTSW 11 4,890,042 (GRCm39) missense probably benign 0.44
R9781:Nefh UTSW 11 4,895,271 (GRCm39) missense probably damaging 1.00
RF001:Nefh UTSW 11 4,891,030 (GRCm39) small insertion probably benign
RF002:Nefh UTSW 11 4,891,050 (GRCm39) small insertion probably benign
RF002:Nefh UTSW 11 4,891,047 (GRCm39) small insertion probably benign
RF009:Nefh UTSW 11 4,890,997 (GRCm39) small insertion probably benign
RF012:Nefh UTSW 11 4,891,055 (GRCm39) small insertion probably benign
RF012:Nefh UTSW 11 4,891,030 (GRCm39) small insertion probably benign
RF012:Nefh UTSW 11 4,891,032 (GRCm39) small insertion probably benign
RF013:Nefh UTSW 11 4,891,032 (GRCm39) small insertion probably benign
RF016:Nefh UTSW 11 4,891,023 (GRCm39) small insertion probably benign
RF016:Nefh UTSW 11 4,891,022 (GRCm39) small insertion probably benign
RF025:Nefh UTSW 11 4,891,029 (GRCm39) small insertion probably benign
RF025:Nefh UTSW 11 4,891,003 (GRCm39) small insertion probably benign
RF028:Nefh UTSW 11 4,891,029 (GRCm39) small insertion probably benign
RF028:Nefh UTSW 11 4,891,012 (GRCm39) small insertion probably benign
RF033:Nefh UTSW 11 4,891,039 (GRCm39) small insertion probably benign
RF033:Nefh UTSW 11 4,891,029 (GRCm39) frame shift probably null
RF035:Nefh UTSW 11 4,891,039 (GRCm39) small insertion probably benign
RF036:Nefh UTSW 11 4,891,048 (GRCm39) small insertion probably benign
RF036:Nefh UTSW 11 4,891,036 (GRCm39) small insertion probably benign
RF036:Nefh UTSW 11 4,891,016 (GRCm39) small insertion probably benign
RF036:Nefh UTSW 11 4,891,010 (GRCm39) small insertion probably benign
RF037:Nefh UTSW 11 4,891,054 (GRCm39) small insertion probably benign
RF037:Nefh UTSW 11 4,891,046 (GRCm39) small insertion probably benign
RF037:Nefh UTSW 11 4,890,999 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,019 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,018 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,012 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,040 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,029 (GRCm39) small insertion probably benign
RF038:Nefh UTSW 11 4,891,027 (GRCm39) small insertion probably benign
RF039:Nefh UTSW 11 4,891,007 (GRCm39) small insertion probably benign
RF041:Nefh UTSW 11 4,891,039 (GRCm39) small insertion probably benign
RF043:Nefh UTSW 11 4,891,016 (GRCm39) small insertion probably benign
RF044:Nefh UTSW 11 4,891,023 (GRCm39) small insertion probably benign
RF044:Nefh UTSW 11 4,891,021 (GRCm39) small insertion probably benign
RF044:Nefh UTSW 11 4,891,016 (GRCm39) small insertion probably benign
RF047:Nefh UTSW 11 4,891,038 (GRCm39) small insertion probably benign
RF048:Nefh UTSW 11 4,891,007 (GRCm39) small insertion probably benign
RF048:Nefh UTSW 11 4,891,003 (GRCm39) small insertion probably benign
RF049:Nefh UTSW 11 4,890,997 (GRCm39) small insertion probably benign
RF051:Nefh UTSW 11 4,891,054 (GRCm39) small insertion probably benign
RF053:Nefh UTSW 11 4,891,014 (GRCm39) nonsense probably null
RF054:Nefh UTSW 11 4,891,048 (GRCm39) small insertion probably benign
RF055:Nefh UTSW 11 4,891,004 (GRCm39) small insertion probably benign
RF058:Nefh UTSW 11 4,891,021 (GRCm39) small insertion probably benign
RF060:Nefh UTSW 11 4,891,052 (GRCm39) small insertion probably benign
RF060:Nefh UTSW 11 4,891,050 (GRCm39) small insertion probably benign
RF062:Nefh UTSW 11 4,891,028 (GRCm39) small insertion probably benign
T0975:Nefh UTSW 11 4,890,151 (GRCm39) missense probably benign 0.00
Z1186:Nefh UTSW 11 4,890,530 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TAGGCAGAGAACTCTCCAGGTCAC -3'
(R):5'- TCCTAGCACCCAGTAGGTCTTCAAC -3'

Sequencing Primer
(F):5'- CACAACAGCAGATGTGAAGTC -3'
(R):5'- AGTAGGTCTTCAACCCATGC -3'
Posted On 2014-06-13