Incidental Mutation 'IGL02664:Nefm'
ID 302674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nefm
Ensembl Gene ENSMUSG00000022054
Gene Name neurofilament, medium polypeptide
Synonyms NF-M, Nfm, neurofilament-M, NF160, NF165, Nef3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # IGL02664
Quality Score
Status
Chromosome 14
Chromosomal Location 68356994-68362453 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 68357664 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: V790E
SMART Domains Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: V790E

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
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign 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
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
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 2015-04-16