Mutagenetix > Incidental Mutation

Incidental Mutation 'P0025:Nefm'

7678

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

038278-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

P0025 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

68356994-68362453 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 68358414 bp (GRCm39)

Zygosity

Homozygous

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: A540E

SMART Domains

Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: A540E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Filament_head	9	97	1.6e-16	PFAM
Pfam:Filament	98	403	1.1e-104	PFAM

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 71.1%
3x: 60.8%
10x: 33.8%
20x: 15.1%

Validation Efficiency

90% (95/106)

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: 4 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah6	A	T	6: 73,140,487 (GRCm39)	D896E	probably benign	Het
Emp2	T	C	16: 10,103,469 (GRCm39)		probably benign	Het
Slit2	T	C	5: 48,461,377 (GRCm39)	Y1458H	probably damaging	Het
Zfhx4	A	T	3: 5,464,648 (GRCm39)	H1627L	probably benign	Het

Other mutations in Nefm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2012-10-29