Incidental Mutation 'R0055:Nefm'
ID 15884
Institutional Source Beutler Lab
Gene Symbol Nefm
Ensembl Gene ENSMUSG00000022054
Gene Name neurofilament, medium polypeptide
Synonyms NF-M, Nfm, neurofilament-M, NF160, NF165, Nef3
MMRRC Submission 038349-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R0055 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 68356994-68362453 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 68358648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022638] [ENSMUST00000111089]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000022638
AA Change: E462V
SMART Domains Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: E462V

DomainStartEndE-ValueType
Pfam:Filament_head 9 97 2.6e-18 PFAM
Filament 98 409 1.16e-131 SMART
coiled coil region 460 533 N/A INTRINSIC
low complexity region 540 604 N/A INTRINSIC
low complexity region 608 668 N/A INTRINSIC
low complexity region 703 719 N/A INTRINSIC
low complexity region 736 754 N/A INTRINSIC
low complexity region 777 796 N/A INTRINSIC
low complexity region 816 824 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111089
SMART Domains Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054

DomainStartEndE-ValueType
Pfam:Filament_head 9 97 1.6e-16 PFAM
Pfam:Filament 98 403 1.1e-104 PFAM
Meta Mutation Damage Score 0.4286 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 80.9%
  • 20x: 71.2%
Validation Efficiency 85% (52/61)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced axon diameter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,547,057 (GRCm39) probably benign Het
Atp6v1h A T 1: 5,154,677 (GRCm39) T2S probably benign Het
BC034090 A T 1: 155,117,404 (GRCm39) L238Q probably damaging Het
Ccdc61 T C 7: 18,626,461 (GRCm39) D128G probably damaging Het
Cfap96 A T 8: 46,421,198 (GRCm39) S108R probably damaging Het
Dennd5a A G 7: 109,498,998 (GRCm39) I955T possibly damaging Het
Ephx4 T C 5: 107,560,944 (GRCm39) L32S probably damaging Het
Fbxo21 T A 5: 118,138,555 (GRCm39) D493E probably benign Het
Frmd4b A T 6: 97,300,610 (GRCm39) probably benign Het
Fzd1 A T 5: 4,806,037 (GRCm39) M515K possibly damaging Het
Gli2 A G 1: 118,818,138 (GRCm39) probably benign Het
Gm12887 T A 4: 121,473,666 (GRCm39) K61N probably damaging Het
Grin2a A T 16: 9,487,671 (GRCm39) V409D probably damaging Het
Grin2b T C 6: 135,900,201 (GRCm39) I227V probably benign Het
Helz2 T G 2: 180,870,614 (GRCm39) D2879A possibly damaging Het
Itpr2 T C 6: 146,224,631 (GRCm39) N1453S probably benign Het
Lin7c T A 2: 109,726,798 (GRCm39) probably benign Het
Ly75 T C 2: 60,152,262 (GRCm39) E1097G probably benign Het
Mcm10 T C 2: 4,996,218 (GRCm39) N882D probably damaging Het
Mybph G T 1: 134,121,590 (GRCm39) V88L probably damaging Het
Nf1 A G 11: 79,362,377 (GRCm39) E1497G probably damaging Het
Or2j3 T C 17: 38,615,702 (GRCm39) S217G possibly damaging Het
Or51ah3 A G 7: 103,210,244 (GRCm39) K187E probably damaging Het
Or52e18 T A 7: 104,609,703 (GRCm39) T79S possibly damaging Het
Phf8-ps A T 17: 33,285,696 (GRCm39) W369R probably damaging Het
Plcd3 C G 11: 102,968,411 (GRCm39) W382S probably damaging Het
Plxna1 T A 6: 89,306,721 (GRCm39) I1370F possibly damaging Het
Qng1 T C 13: 58,531,980 (GRCm39) D192G probably damaging Het
Rarb G A 14: 16,509,066 (GRCm38) R106C probably damaging Het
Rps6ka5 G A 12: 100,644,839 (GRCm39) T37I probably damaging Het
Scube1 A G 15: 83,518,937 (GRCm39) V301A probably damaging Het
Slc25a45 T C 19: 5,930,495 (GRCm39) F3L probably damaging Het
Slfn10-ps A G 11: 82,921,126 (GRCm39) noncoding transcript Het
Slit2 C A 5: 48,439,068 (GRCm39) C1077* probably null Het
Ucp1 G T 8: 84,017,233 (GRCm39) E8* probably null Het
Zdhhc11 C T 13: 74,130,805 (GRCm39) Q295* probably null Het
Zfp457 T A 13: 67,442,098 (GRCm39) H63L probably damaging Het
Other mutations in Nefm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Nefm APN 14 68,361,913 (GRCm39) missense probably damaging 1.00
IGL02379:Nefm APN 14 68,357,688 (GRCm39) intron probably benign
IGL02664:Nefm APN 14 68,357,664 (GRCm39) intron probably benign
IGL03115:Nefm APN 14 68,357,728 (GRCm39) intron probably benign
IGL03328:Nefm APN 14 68,358,739 (GRCm39) missense probably benign 0.28
IGL03055:Nefm UTSW 14 68,360,358 (GRCm39) missense probably damaging 0.98
P0025:Nefm UTSW 14 68,358,414 (GRCm39) intron probably benign
R0055:Nefm UTSW 14 68,358,648 (GRCm39) intron probably benign
R0111:Nefm UTSW 14 68,361,991 (GRCm39) missense probably benign 0.43
R0240:Nefm UTSW 14 68,358,583 (GRCm39) nonsense probably null
R0240:Nefm UTSW 14 68,358,583 (GRCm39) nonsense probably null
R0480:Nefm UTSW 14 68,361,608 (GRCm39) missense probably damaging 1.00
R0505:Nefm UTSW 14 68,361,608 (GRCm39) missense probably damaging 1.00
R0565:Nefm UTSW 14 68,362,070 (GRCm39) missense probably damaging 1.00
R1454:Nefm UTSW 14 68,358,828 (GRCm39) missense probably damaging 1.00
R1902:Nefm UTSW 14 68,361,563 (GRCm39) missense probably benign 0.02
R2680:Nefm UTSW 14 68,361,235 (GRCm39) missense probably damaging 1.00
R3763:Nefm UTSW 14 68,361,797 (GRCm39) missense probably damaging 1.00
R4996:Nefm UTSW 14 68,358,570 (GRCm39) intron probably benign
R5426:Nefm UTSW 14 68,357,515 (GRCm39) intron probably benign
R5613:Nefm UTSW 14 68,358,583 (GRCm39) nonsense probably null
R5989:Nefm UTSW 14 68,361,778 (GRCm39) missense probably benign 0.16
R7255:Nefm UTSW 14 68,353,449 (GRCm39) missense probably benign 0.08
R8704:Nefm UTSW 14 68,358,510 (GRCm39) missense unknown
R8775:Nefm UTSW 14 68,362,108 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Nefm UTSW 14 68,362,108 (GRCm39) missense probably damaging 1.00
R9250:Nefm UTSW 14 68,358,570 (GRCm39) intron probably benign
R9720:Nefm UTSW 14 68,358,793 (GRCm39) missense probably benign 0.39
Posted On 2013-01-08