Incidental Mutation 'IGL03328:Nefm'
ID 416752
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 # IGL03328
Quality Score
Status
Chromosome 14
Chromosomal Location 68356994-68362453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68358739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 432 (S432T)
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: S432T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: S432T

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S 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
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 2016-08-02