Mutagenetix > Incidental Mutation

Incidental Mutation 'R4462:Nefh'

330192

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF200, NF-H, NEFH

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4888754-4898064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4891015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 535 (S535P)

Ref Sequence

ENSEMBL: ENSMUSP00000091061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093369]

AlphaFold

P19246

Predicted Effect

probably damaging
Transcript: ENSMUST00000093369
AA Change: S535P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S535P

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
low complexity region	49	64	N/A	INTRINSIC
Filament	94	410	1.45e-109	SMART
low complexity region	470	515	N/A	INTRINSIC
Pfam:DUF1388	519	545	1.8e-14	PFAM
Pfam:DUF1388	536	562	5.8e-15	PFAM
Pfam:DUF1388	542	569	2.7e-12	PFAM
Pfam:DUF1388	578	611	9.7e-10	PFAM
Pfam:DUF1388	602	629	4.9e-14	PFAM
Pfam:DUF1388	608	635	4.7e-14	PFAM
Pfam:DUF1388	626	653	1.4e-13	PFAM
Pfam:DUF1388	632	659	2.5e-13	PFAM
Pfam:DUF1388	656	683	4.4e-14	PFAM
Pfam:DUF1388	680	706	1.5e-12	PFAM
Pfam:DUF1388	700	730	5e-12	PFAM
Pfam:DUF1388	728	755	7.9e-14	PFAM
Pfam:DUF1388	752	779	4.7e-14	PFAM
Pfam:DUF1388	779	800	1.9e-9	PFAM
low complexity region	816	829	N/A	INTRINSIC
low complexity region	858	948	N/A	INTRINSIC
low complexity region	949	968	N/A	INTRINSIC
low complexity region	976	1039	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,457,084 (GRCm39)	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,836,357 (GRCm39)	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,893,278 (GRCm39)	V975E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Btnl6	A	G	17: 34,727,031 (GRCm39)	S500P	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cdon	T	C	9: 35,368,876 (GRCm39)	V34A	probably damaging	Het
Defa17	A	G	8: 22,146,553 (GRCm39)	R60G	probably benign	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fuca2	T	C	10: 13,378,979 (GRCm39)	V41A	probably damaging	Het
Ggt6	C	A	11: 72,328,654 (GRCm39)	H385N	possibly damaging	Het
Hgsnat	G	A	8: 26,444,664 (GRCm39)	T428I	probably damaging	Het
Or2y6	T	A	11: 52,104,801 (GRCm39)	N5I	probably damaging	Het
Or8b1c	T	A	9: 38,384,360 (GRCm39)	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,445,200 (GRCm39)	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,637,229 (GRCm39)	D282G	probably damaging	Het
Ranbp17	T	C	11: 33,167,421 (GRCm39)		probably null	Het
Slc13a2	T	C	11: 78,295,213 (GRCm39)	T187A	probably benign	Het
Slco3a1	A	C	7: 74,204,311 (GRCm39)	S10A	probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Trim38	A	G	13: 23,975,435 (GRCm39)	Y458C	probably null	Het
Ubr4	A	G	4: 139,145,813 (GRCm39)	M1537V	possibly damaging	Het

Other mutations in Nefh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02931:Nefh	APN	11	4,891,356 (GRCm39)	missense	possibly damaging	0.71
IGL03025:Nefh	APN	11	4,895,289 (GRCm39)	missense	probably damaging	0.99
FR4340:Nefh	UTSW	11	4,891,040 (GRCm39)	small insertion	probably benign
FR4340:Nefh	UTSW	11	4,891,038 (GRCm39)	small insertion	probably benign
FR4340:Nefh	UTSW	11	4,891,033 (GRCm39)	small insertion	probably benign
R0041:Nefh	UTSW	11	4,895,184 (GRCm39)	missense	possibly damaging	0.92
R0149:Nefh	UTSW	11	4,890,799 (GRCm39)	missense	probably benign	0.39
R0361:Nefh	UTSW	11	4,890,799 (GRCm39)	missense	probably benign	0.39
R0531:Nefh	UTSW	11	4,890,240 (GRCm39)	missense	probably damaging	1.00
R1340:Nefh	UTSW	11	4,891,002 (GRCm39)	small insertion	probably benign
R1349:Nefh	UTSW	11	4,891,010 (GRCm39)	small insertion	probably benign
R1469:Nefh	UTSW	11	4,890,066 (GRCm39)	missense	probably benign	0.20
R1469:Nefh	UTSW	11	4,890,066 (GRCm39)	missense	probably benign	0.20
R1564:Nefh	UTSW	11	4,889,878 (GRCm39)	missense	unknown
R2165:Nefh	UTSW	11	4,893,872 (GRCm39)	missense	probably damaging	1.00
R2417:Nefh	UTSW	11	4,889,479 (GRCm39)	missense	unknown
R2906:Nefh	UTSW	11	4,890,216 (GRCm39)	missense	probably benign	0.15
R3750:Nefh	UTSW	11	4,889,937 (GRCm39)	missense	probably benign	0.33
R4298:Nefh	UTSW	11	4,890,066 (GRCm39)	missense	probably benign
R4713:Nefh	UTSW	11	4,889,656 (GRCm39)	missense	unknown
R4878:Nefh	UTSW	11	4,891,333 (GRCm39)	missense	probably damaging	0.98
R5423:Nefh	UTSW	11	4,890,985 (GRCm39)	missense	possibly damaging	0.59
R5648:Nefh	UTSW	11	4,895,233 (GRCm39)	missense	probably damaging	1.00
R5893:Nefh	UTSW	11	4,891,323 (GRCm39)	missense	probably damaging	1.00
R6459:Nefh	UTSW	11	4,889,551 (GRCm39)	missense	unknown
R7583:Nefh	UTSW	11	4,891,089 (GRCm39)	missense	probably damaging	0.96
R8557:Nefh	UTSW	11	4,891,233 (GRCm39)	missense	probably damaging	0.98
R8925:Nefh	UTSW	11	4,890,530 (GRCm39)	small deletion	probably benign
R8982:Nefh	UTSW	11	4,897,549 (GRCm39)	missense	probably damaging	1.00
R9101:Nefh	UTSW	11	4,890,925 (GRCm39)	missense	probably damaging	0.97
R9291:Nefh	UTSW	11	4,890,871 (GRCm39)	missense	probably benign	0.39
R9576:Nefh	UTSW	11	4,891,222 (GRCm39)	missense	possibly damaging	0.91
R9616:Nefh	UTSW	11	4,889,443 (GRCm39)	nonsense	probably null
R9709:Nefh	UTSW	11	4,890,042 (GRCm39)	missense	probably benign	0.44
R9781:Nefh	UTSW	11	4,895,271 (GRCm39)	missense	probably damaging	1.00
RF001:Nefh	UTSW	11	4,891,030 (GRCm39)	small insertion	probably benign
RF002:Nefh	UTSW	11	4,891,050 (GRCm39)	small insertion	probably benign
RF002:Nefh	UTSW	11	4,891,047 (GRCm39)	small insertion	probably benign
RF009:Nefh	UTSW	11	4,890,997 (GRCm39)	small insertion	probably benign
RF012:Nefh	UTSW	11	4,891,055 (GRCm39)	small insertion	probably benign
RF012:Nefh	UTSW	11	4,891,030 (GRCm39)	small insertion	probably benign
RF012:Nefh	UTSW	11	4,891,032 (GRCm39)	small insertion	probably benign
RF013:Nefh	UTSW	11	4,891,032 (GRCm39)	small insertion	probably benign
RF016:Nefh	UTSW	11	4,891,023 (GRCm39)	small insertion	probably benign
RF016:Nefh	UTSW	11	4,891,022 (GRCm39)	small insertion	probably benign
RF025:Nefh	UTSW	11	4,891,029 (GRCm39)	small insertion	probably benign
RF025:Nefh	UTSW	11	4,891,003 (GRCm39)	small insertion	probably benign
RF028:Nefh	UTSW	11	4,891,029 (GRCm39)	small insertion	probably benign
RF028:Nefh	UTSW	11	4,891,012 (GRCm39)	small insertion	probably benign
RF033:Nefh	UTSW	11	4,891,039 (GRCm39)	small insertion	probably benign
RF033:Nefh	UTSW	11	4,891,029 (GRCm39)	frame shift	probably null
RF035:Nefh	UTSW	11	4,891,039 (GRCm39)	small insertion	probably benign
RF036:Nefh	UTSW	11	4,891,048 (GRCm39)	small insertion	probably benign
RF036:Nefh	UTSW	11	4,891,036 (GRCm39)	small insertion	probably benign
RF036:Nefh	UTSW	11	4,891,016 (GRCm39)	small insertion	probably benign
RF036:Nefh	UTSW	11	4,891,010 (GRCm39)	small insertion	probably benign
RF037:Nefh	UTSW	11	4,891,054 (GRCm39)	small insertion	probably benign
RF037:Nefh	UTSW	11	4,891,046 (GRCm39)	small insertion	probably benign
RF037:Nefh	UTSW	11	4,890,999 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,019 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,018 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,012 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,040 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,029 (GRCm39)	small insertion	probably benign
RF038:Nefh	UTSW	11	4,891,027 (GRCm39)	small insertion	probably benign
RF039:Nefh	UTSW	11	4,891,007 (GRCm39)	small insertion	probably benign
RF041:Nefh	UTSW	11	4,891,039 (GRCm39)	small insertion	probably benign
RF043:Nefh	UTSW	11	4,891,016 (GRCm39)	small insertion	probably benign
RF044:Nefh	UTSW	11	4,891,023 (GRCm39)	small insertion	probably benign
RF044:Nefh	UTSW	11	4,891,021 (GRCm39)	small insertion	probably benign
RF044:Nefh	UTSW	11	4,891,016 (GRCm39)	small insertion	probably benign
RF047:Nefh	UTSW	11	4,891,038 (GRCm39)	small insertion	probably benign
RF048:Nefh	UTSW	11	4,891,007 (GRCm39)	small insertion	probably benign
RF048:Nefh	UTSW	11	4,891,003 (GRCm39)	small insertion	probably benign
RF049:Nefh	UTSW	11	4,890,997 (GRCm39)	small insertion	probably benign
RF051:Nefh	UTSW	11	4,891,054 (GRCm39)	small insertion	probably benign
RF053:Nefh	UTSW	11	4,891,014 (GRCm39)	nonsense	probably null
RF054:Nefh	UTSW	11	4,891,048 (GRCm39)	small insertion	probably benign
RF055:Nefh	UTSW	11	4,891,004 (GRCm39)	small insertion	probably benign
RF058:Nefh	UTSW	11	4,891,021 (GRCm39)	small insertion	probably benign
RF060:Nefh	UTSW	11	4,891,052 (GRCm39)	small insertion	probably benign
RF060:Nefh	UTSW	11	4,891,050 (GRCm39)	small insertion	probably benign
RF062:Nefh	UTSW	11	4,891,028 (GRCm39)	small insertion	probably benign
T0975:Nefh	UTSW	11	4,890,151 (GRCm39)	missense	probably benign	0.00
Z1186:Nefh	UTSW	11	4,890,530 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATGGTGACTTGGCCTCAC -3'
(R):5'- ATTGGCTTTGGTCCGAGTCC -3'

Sequencing Primer
(F):5'- ACCTGGAGACTTCACTGTAGCTG -3'
(R):5'- TCTTACTGAAGGACTCCCAAAAATTC -3'

Posted On

2015-07-21