Incidental Mutation 'R0361:Nefh'
ID 30120
Institutional Source Beutler Lab
Gene Symbol Nefh
Ensembl Gene ENSMUSG00000020396
Gene Name neurofilament, heavy polypeptide
Synonyms NF200, NF-H, NEFH
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4888754-4898064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4890799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 607 (S607T)
Ref Sequence ENSEMBL: ENSMUSP00000091061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093369]
AlphaFold P19246
Predicted Effect probably benign
Transcript: ENSMUST00000093369
AA Change: S607T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S607T

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 0.0967 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign 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
R0041:Nefh UTSW 11 4,895,184 (GRCm39) missense possibly damaging 0.92
R0149: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'- CTTGGCCTCACCTGGTGACTTG -3'
(R):5'- AGGAGCAGCAGCTACATCTCCC -3'

Sequencing Primer
(F):5'- cacctggtgacttgacctc -3'
(R):5'- CAGAAGAGGCTGCATCTCCAG -3'
Posted On 2013-04-24