Incidental Mutation 'R5989:Nefm'
ID 481897
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 044169-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R5989 (G1)
Quality Score 206.009
Status Not validated
Chromosome 14
Chromosomal Location 68356994-68362453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68361778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 162 (V162A)
Ref Sequence ENSEMBL: ENSMUSP00000022638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022638] [ENSMUST00000111089]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022638
AA Change: V162A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: V162A

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
AA Change: V162A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
AA Change: V162A

DomainStartEndE-ValueType
Pfam:Filament_head 9 97 1.6e-16 PFAM
Pfam:Filament 98 403 1.1e-104 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.6%
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cartpt T A 13: 100,035,492 (GRCm39) I109F probably damaging Het
Csmd3 G A 15: 47,454,160 (GRCm39) P3562L possibly damaging Het
Cyp2c40 T C 19: 39,796,024 (GRCm39) D118G probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Drgx A G 14: 32,330,145 (GRCm39) N116S probably benign Het
Ebf1 G T 11: 44,886,998 (GRCm39) C565F probably damaging Het
Ggnbp1 A G 17: 27,248,721 (GRCm39) R97G probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm42417 A G 1: 36,571,273 (GRCm39) F183L probably damaging Het
Ipcef1 A T 10: 6,929,532 (GRCm39) Y69* probably null Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Mtif2 A G 11: 29,480,098 (GRCm39) T55A probably damaging Het
Nmral1 G A 16: 4,536,902 (GRCm39) probably benign Het
Or5h23 A T 16: 58,906,697 (GRCm39) W50R probably benign Het
Panx2 T C 15: 88,944,455 (GRCm39) L60P probably damaging Het
Prkag3 T C 1: 74,780,433 (GRCm39) N411D probably benign Het
Ramacl G A 13: 67,056,050 (GRCm39) M14I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rttn G A 18: 88,991,750 (GRCm39) D110N probably damaging Het
Sfta2 G T 17: 35,960,672 (GRCm39) probably benign Het
Slc17a3 A G 13: 24,026,411 (GRCm39) probably benign Het
Spem1 G A 11: 69,711,951 (GRCm39) P238S possibly damaging Het
Tmem200c G T 17: 69,144,431 (GRCm39) probably benign Het
Trpm2 A G 10: 77,795,734 (GRCm39) F131S probably damaging Het
Vps51 A G 19: 6,126,402 (GRCm39) S117P probably damaging Het
Zbtb21 G A 16: 97,752,699 (GRCm39) P556L 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
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
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'- AGCGACTGCACCTTCTTGTC -3'
(R):5'- GACTACAAACTGTCCCGCTC -3'

Sequencing Primer
(F):5'- GTCCAGCTCCACCTTAACCATC -3'
(R):5'- TGTCCCGCTCTAACGAGAAAGAG -3'
Posted On 2017-06-26