Incidental Mutation 'T0975:Nefh'
ID 262175
Institutional Source Beutler Lab
Gene Symbol Nefh
Ensembl Gene ENSMUSG00000020396
Gene Name neurofilament, heavy polypeptide
Synonyms NF200, NF-H, NEFH
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # T0975 (G3) of strain 714
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4888754-4898064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4890151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 823 (P823S)
Ref Sequence ENSEMBL: ENSMUSP00000091061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093369]
AlphaFold P19246
Predicted Effect probably benign
Transcript: ENSMUST00000093369
AA Change: P823S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: P823S

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
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 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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik TAA TAAA 11: 3,887,945 (GRCm39) probably null Het
4930556J24Rik C T 11: 3,926,324 (GRCm39) A27T unknown Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bpifb5 C A 2: 154,071,384 (GRCm39) probably null Het
Castor1 G C 11: 4,170,445 (GRCm39) G147A probably benign Het
Ccdc157 C T 11: 4,096,246 (GRCm39) A455T probably damaging Het
Ccng1 A C 11: 40,644,871 (GRCm39) S9A probably benign Het
Cfh T C 1: 140,082,336 (GRCm39) T164A probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Chrng T C 1: 87,138,348 (GRCm39) S380P probably benign Het
Clspn ACGGCGGCGGCGGCG ACGGCGGCGGCGGCGGCGGCG 4: 126,460,230 (GRCm39) probably benign Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Dlgap1 T C 17: 70,823,950 (GRCm39) S312P possibly damaging Het
Dnah10 A G 5: 124,840,130 (GRCm39) S1255G probably benign Het
Dpep1 A T 8: 123,927,727 (GRCm39) S388C probably damaging Het
Emid1 T C 11: 5,094,386 (GRCm39) T42A probably damaging Het
Emid1 A C 11: 5,078,884 (GRCm39) L353V probably benign Het
Epn3 A G 11: 94,382,733 (GRCm39) probably null Het
Fam124b T C 1: 80,190,843 (GRCm39) E180G probably benign Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm9972 GA GAA 11: 42,927,597 (GRCm39) probably null Het
Hmmr G C 11: 40,614,243 (GRCm39) N148K probably damaging Het
Homez C T 14: 55,094,796 (GRCm39) R304K possibly damaging Het
Ifngr1 G A 10: 19,485,221 (GRCm39) V407M probably damaging Het
Inpp5j G T 11: 3,452,527 (GRCm39) T241N possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kremen1 C T 11: 5,145,105 (GRCm39) A424T probably benign Het
Mat2b G A 11: 40,570,918 (GRCm39) T302I probably benign Het
Mtmr3 C T 11: 4,438,441 (GRCm39) R671K probably benign Het
Nacad A G 11: 6,551,632 (GRCm39) C520R probably benign Het
Nacad GCAGGGTCAGGGTC GCAGGGTCAGGGTCAGGGTC 11: 6,549,750 (GRCm39) probably benign Het
Nacad T C 11: 6,551,622 (GRCm39) N523S probably benign Het
Nfrkb G C 9: 31,308,379 (GRCm39) A230P probably benign Het
Nlrp4a A G 7: 26,149,062 (GRCm39) E223G probably damaging Het
Notch3 T A 17: 32,365,391 (GRCm39) Y1107F probably damaging Het
Or10ak9 G T 4: 118,726,500 (GRCm39) R174M probably benign Het
Or13g1 A T 7: 85,955,492 (GRCm39) Y276* probably null Het
Or6c35 A G 10: 129,169,314 (GRCm39) D188G probably benign Het
Osm A G 11: 4,189,588 (GRCm39) D124G probably benign Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Sytl1 TCTGC TC 4: 132,984,305 (GRCm39) probably benign Het
Tcn2 G C 11: 3,873,487 (GRCm39) F286L possibly damaging Het
Tg T C 15: 66,560,712 (GRCm39) S10P probably benign Het
Tmprss7 C T 16: 45,501,096 (GRCm39) R235Q probably benign Het
Tns3 G A 11: 8,499,100 (GRCm39) probably benign Het
Tns3 G T 11: 8,401,146 (GRCm39) L1051M probably benign Het
Tns3 T G 11: 8,429,518 (GRCm39) E806A probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Txnrd2 A G 16: 18,294,315 (GRCm39) H436R probably damaging Het
Ubr4 C T 4: 139,179,092 (GRCm39) P2001S probably damaging Het
Vmn2r23 T A 6: 123,690,120 (GRCm39) M332K probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zfyve21 A G 12: 111,794,067 (GRCm39) D206G probably damaging Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Zpld2 GTG GTGCTG 4: 133,929,940 (GRCm39) 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
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 4,891,029 (GRCm39) frame shift probably null
RF033:Nefh UTSW 11 4,891,039 (GRCm39) small insertion probably benign
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
Z1186:Nefh UTSW 11 4,890,530 (GRCm39) small deletion probably benign
Predicted Primers
Posted On 2015-02-04