Incidental Mutation 'R1454:Nefm'
ID 162224
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 039509-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R1454 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 68356994-68362453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68358828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 402 (L402P)
Ref Sequence ENSEMBL: ENSMUSP00000022638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022638] [ENSMUST00000111089]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022638
AA Change: L402P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: L402P

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 0.9662 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,666,881 (GRCm39) V537A possibly damaging Het
Adcy10 A T 1: 165,342,949 (GRCm39) I272F possibly damaging Het
Adcy6 A G 15: 98,502,609 (GRCm39) S2P probably damaging Het
Agap1 A G 1: 89,765,528 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,155,928 (GRCm39) V116A probably benign Het
Ankdd1b A T 13: 96,569,913 (GRCm39) probably null Het
Antxrl G A 14: 33,782,906 (GRCm39) V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 (GRCm39) I38V probably benign Het
Atxn7l2 A G 3: 108,115,748 (GRCm39) probably benign Het
Bfsp2 A T 9: 103,357,424 (GRCm39) M1K probably null Het
Camsap3 T A 8: 3,653,968 (GRCm39) I520N possibly damaging Het
Cenpc1 C T 5: 86,161,369 (GRCm39) V854I possibly damaging Het
Csnk2a1 T C 2: 152,099,347 (GRCm39) L88S probably damaging Het
Dcaf17 A G 2: 70,903,517 (GRCm39) N171D probably damaging Het
Dctn1 G C 6: 83,174,490 (GRCm39) A1077P possibly damaging Het
Dock1 T C 7: 134,453,338 (GRCm39) probably benign Het
Egfr A T 11: 16,839,920 (GRCm39) I645L probably benign Het
Gdpd1 T G 11: 86,950,335 (GRCm39) K79N possibly damaging Het
Ggt5 A T 10: 75,445,742 (GRCm39) L432F probably benign Het
Gm11060 A G 2: 104,924,097 (GRCm39) T22A unknown Het
Gpr132 G A 12: 112,815,860 (GRCm39) T322I possibly damaging Het
Grin1 G A 2: 25,182,442 (GRCm39) R940* probably null Het
Hip1 T C 5: 135,467,486 (GRCm39) T316A probably benign Het
Hnrnpm A G 17: 33,885,462 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,846 (GRCm39) T200I probably benign Het
Hspa9 A T 18: 35,071,659 (GRCm39) L647H probably damaging Het
Itgad T C 7: 127,791,309 (GRCm39) I727T probably benign Het
Kcnma1 T C 14: 23,513,268 (GRCm39) D522G probably damaging Het
Lipf C T 19: 33,948,132 (GRCm39) probably benign Het
Ly6i T C 15: 74,854,904 (GRCm39) D2G possibly damaging Het
Mast1 G A 8: 85,647,264 (GRCm39) P631L probably damaging Het
Mmp1b G C 9: 7,386,693 (GRCm39) L144V probably damaging Het
Msh6 A G 17: 88,292,186 (GRCm39) S314G probably benign Het
Myo5c G A 9: 75,170,348 (GRCm39) V493I possibly damaging Het
Nrxn2 T C 19: 6,531,476 (GRCm39) F697S probably damaging Het
Or13c7b A T 4: 43,820,639 (GRCm39) C241S probably damaging Het
Pex13 A G 11: 23,599,422 (GRCm39) I363T probably benign Het
Plcb3 T C 19: 6,932,414 (GRCm39) R1082G possibly damaging Het
Psg28 A T 7: 18,161,889 (GRCm39) S205T possibly damaging Het
Pxt1 C A 17: 29,153,756 (GRCm39) V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 (GRCm39) T53M probably damaging Het
Slc5a9 A G 4: 111,741,161 (GRCm39) V495A probably benign Het
Snrpa T C 7: 26,892,362 (GRCm39) K66R probably benign Het
Srgap1 T A 10: 121,732,643 (GRCm39) E145V probably damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tatdn2 T A 6: 113,681,288 (GRCm39) D440E probably benign Het
Tbc1d21 A G 9: 58,270,096 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,034 (GRCm39) Y570* probably null Het
Tbc1d32 A T 10: 56,053,575 (GRCm39) probably benign Het
Tdrd5 G C 1: 156,087,406 (GRCm39) Q839E probably benign Het
Tecpr2 A G 12: 110,935,387 (GRCm39) N1402S probably benign Het
Thbs1 A G 2: 117,953,153 (GRCm39) D921G probably damaging Het
Tll1 A G 8: 64,491,524 (GRCm39) V803A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm4 T C 7: 44,966,480 (GRCm39) E461G probably damaging Het
Zp3 T A 5: 136,013,042 (GRCm39) I152N 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCTTAGCCTCAGGAGACTTCACG -3'
(R):5'- AGCACTCACTGCCCTGGTAGAAAG -3'

Sequencing Primer
(F):5'- ACTTCACGGGAGACTTTTCGG -3'
(R):5'- CTGCCCTGGTAGAAAGAGTATTTCC -3'
Posted On 2014-03-14