Incidental Mutation 'IGL02931:Nefh'
ID364121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nefh
Ensembl Gene ENSMUSG00000020396
Gene Nameneurofilament, heavy polypeptide
SynonymsNF-H, NEFH, NF200
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02931
Quality Score
Status
Chromosome11
Chromosomal Location4938754-4948064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4941356 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 421 (T421I)
Ref Sequence ENSEMBL: ENSMUSP00000091061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093369]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093369
AA Change: T421I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: T421I

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,079,012 R254Q probably benign Het
Adgrv1 T C 13: 81,579,714 Y269C probably damaging Het
Apol7a C A 15: 77,393,450 E33* probably null Het
Arhgap29 T C 3: 121,992,860 V358A probably benign Het
B3galt1 T C 2: 68,118,384 S148P probably damaging Het
BC061237 A G 14: 44,503,322 N60D possibly damaging Het
Bcl9l C T 9: 44,500,750 P11L probably damaging Het
Ccdc89 A C 7: 90,426,902 K107Q probably benign Het
Col27a1 T C 4: 63,331,426 probably benign Het
Col5a2 T C 1: 45,385,065 D1067G probably damaging Het
Col9a2 A T 4: 121,053,192 R511S probably benign Het
Disp3 G A 4: 148,249,201 S1060F possibly damaging Het
Dusp8 T C 7: 142,082,930 T308A probably benign Het
Ern1 T C 11: 106,423,440 N178S probably damaging Het
Gas6 C A 8: 13,477,136 C204F probably damaging Het
Gga1 T C 15: 78,893,322 S558P possibly damaging Het
Gli1 T C 10: 127,332,410 T525A probably benign Het
Gm428 G A 4: 73,687,365 A338T probably damaging Het
Gse1 A G 8: 120,578,069 probably benign Het
Hmcn1 G A 1: 150,657,207 S3075L probably benign Het
Hnf4a G A 2: 163,566,117 probably benign Het
Htt A T 5: 34,876,753 E1894D probably damaging Het
Kcnh8 G A 17: 52,956,622 E716K probably benign Het
Kntc1 A G 5: 123,799,811 Y1524C probably damaging Het
Krtap9-5 A G 11: 99,949,105 T211A unknown Het
Lin54 T C 5: 100,480,321 I8V possibly damaging Het
Lipe A G 7: 25,383,335 probably benign Het
Lpin2 T A 17: 71,238,683 V508E probably damaging Het
Lrrc9 C A 12: 72,454,149 H216Q probably damaging Het
Lrrn1 T C 6: 107,567,748 L169P probably damaging Het
Map9 C A 3: 82,377,121 T334K possibly damaging Het
Mst1 A T 9: 108,084,642 probably null Het
Mtor T A 4: 148,464,964 F602I probably benign Het
Mylpf T A 7: 127,213,626 D98E probably benign Het
Naca C A 10: 128,047,682 Q2059K probably damaging Het
Nlrp4g T A 9: 124,348,940 noncoding transcript Het
Npat C T 9: 53,571,041 Q1350* probably null Het
Oaz3 T C 3: 94,434,980 N123S probably benign Het
Patj A G 4: 98,411,173 probably benign Het
Piezo1 A C 8: 122,483,519 D2224E probably damaging Het
Pnpla7 A T 2: 25,015,229 I610F possibly damaging Het
Psapl1 A T 5: 36,204,889 D275V probably damaging Het
Ptpdc1 T A 13: 48,590,619 probably benign Het
Rac2 T C 15: 78,570,747 E31G possibly damaging Het
Sdhc T C 1: 171,143,555 probably benign Het
Smim23 G T 11: 32,820,667 P80T probably damaging Het
Snupn C T 9: 56,957,080 T21I probably benign Het
Tjp2 A G 19: 24,096,632 V1097A probably benign Het
Tmem8 T A 17: 26,117,949 F280L probably benign Het
Ttc16 A G 2: 32,771,927 Y164H probably damaging Het
Txlnb A G 10: 17,827,982 E296G probably damaging Het
Ube2l6 G A 2: 84,802,851 V34M probably damaging Het
Vwf A C 6: 125,615,968 S764R possibly damaging Het
Zfand3 A G 17: 30,192,637 S146G probably benign Het
Zfp280d T G 9: 72,296,025 F18L probably benign Het
Other mutations in Nefh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03025:Nefh APN 11 4945289 missense probably damaging 0.99
FR4340:Nefh UTSW 11 4941033 small insertion probably benign
FR4340:Nefh UTSW 11 4941038 small insertion probably benign
FR4340:Nefh UTSW 11 4941040 small insertion probably benign
R0041:Nefh UTSW 11 4945184 missense possibly damaging 0.92
R0149:Nefh UTSW 11 4940799 missense probably benign 0.39
R0361:Nefh UTSW 11 4940799 missense probably benign 0.39
R0531:Nefh UTSW 11 4940240 missense probably damaging 1.00
R1340:Nefh UTSW 11 4941002 small insertion probably benign
R1349:Nefh UTSW 11 4941010 small insertion probably benign
R1469:Nefh UTSW 11 4940066 missense probably benign 0.20
R1469:Nefh UTSW 11 4940066 missense probably benign 0.20
R1564:Nefh UTSW 11 4939878 missense unknown
R2165:Nefh UTSW 11 4943872 missense probably damaging 1.00
R2417:Nefh UTSW 11 4939479 missense unknown
R2906:Nefh UTSW 11 4940216 missense probably benign 0.15
R3750:Nefh UTSW 11 4939937 missense probably benign 0.33
R4298:Nefh UTSW 11 4940066 missense probably benign
R4462:Nefh UTSW 11 4941015 missense probably damaging 0.98
R4713:Nefh UTSW 11 4939656 missense unknown
R4878:Nefh UTSW 11 4941333 missense probably damaging 0.98
R5423:Nefh UTSW 11 4940985 missense possibly damaging 0.59
R5648:Nefh UTSW 11 4945233 missense probably damaging 1.00
R5893:Nefh UTSW 11 4941323 missense probably damaging 1.00
R6459:Nefh UTSW 11 4939551 missense unknown
R7583:Nefh UTSW 11 4941089 missense probably damaging 0.96
R7925:Nefh UTSW 11 4940972 small deletion probably benign
RF001:Nefh UTSW 11 4941030 small insertion probably benign
RF002:Nefh UTSW 11 4941047 small insertion probably benign
RF002:Nefh UTSW 11 4941050 small insertion probably benign
RF009:Nefh UTSW 11 4940997 small insertion probably benign
RF012:Nefh UTSW 11 4941030 small insertion probably benign
RF012:Nefh UTSW 11 4941032 small insertion probably benign
RF012:Nefh UTSW 11 4941055 small insertion probably benign
RF013:Nefh UTSW 11 4941032 small insertion probably benign
RF016:Nefh UTSW 11 4941022 small insertion probably benign
RF016:Nefh UTSW 11 4941023 small insertion probably benign
RF025:Nefh UTSW 11 4941003 small insertion probably benign
RF025:Nefh UTSW 11 4941029 small insertion probably benign
RF028:Nefh UTSW 11 4941012 small insertion probably benign
RF028:Nefh UTSW 11 4941029 small insertion probably benign
RF033:Nefh UTSW 11 4941029 frame shift probably null
RF033:Nefh UTSW 11 4941039 small insertion probably benign
RF035:Nefh UTSW 11 4941039 small insertion probably benign
RF036:Nefh UTSW 11 4941010 small insertion probably benign
RF036:Nefh UTSW 11 4941016 small insertion probably benign
RF036:Nefh UTSW 11 4941036 small insertion probably benign
RF036:Nefh UTSW 11 4941048 small insertion probably benign
RF037:Nefh UTSW 11 4940999 small insertion probably benign
RF037:Nefh UTSW 11 4941046 small insertion probably benign
RF037:Nefh UTSW 11 4941054 small insertion probably benign
RF038:Nefh UTSW 11 4941012 small insertion probably benign
RF038:Nefh UTSW 11 4941018 small insertion probably benign
RF038:Nefh UTSW 11 4941019 small insertion probably benign
RF038:Nefh UTSW 11 4941027 small insertion probably benign
RF038:Nefh UTSW 11 4941029 small insertion probably benign
RF038:Nefh UTSW 11 4941040 small insertion probably benign
RF039:Nefh UTSW 11 4941007 small insertion probably benign
RF041:Nefh UTSW 11 4941039 small insertion probably benign
RF043:Nefh UTSW 11 4941016 small insertion probably benign
RF044:Nefh UTSW 11 4941016 small insertion probably benign
RF044:Nefh UTSW 11 4941021 small insertion probably benign
RF044:Nefh UTSW 11 4941023 small insertion probably benign
RF047:Nefh UTSW 11 4941038 small insertion probably benign
RF048:Nefh UTSW 11 4941003 small insertion probably benign
RF048:Nefh UTSW 11 4941007 small insertion probably benign
RF049:Nefh UTSW 11 4940997 small insertion probably benign
RF051:Nefh UTSW 11 4941054 small insertion probably benign
RF053:Nefh UTSW 11 4941014 nonsense probably null
RF054:Nefh UTSW 11 4941048 small insertion probably benign
RF055:Nefh UTSW 11 4941004 small insertion probably benign
RF058:Nefh UTSW 11 4941021 small insertion probably benign
RF060:Nefh UTSW 11 4941050 small insertion probably benign
RF060:Nefh UTSW 11 4941052 small insertion probably benign
RF062:Nefh UTSW 11 4941028 small insertion probably benign
T0975:Nefh UTSW 11 4940151 missense probably benign 0.00
Posted On2015-12-18