Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Nefh'

375073

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF-H, NEFH, NF200

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4938754-4948064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4941333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 429 (S429P)

Ref Sequence

ENSEMBL: ENSMUSP00000091061 (fasta)

Gene Model

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

AlphaFold

P19246

Predicted Effect

probably damaging
Transcript: ENSMUST00000093369
AA Change: S429P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S429P

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

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Nefh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02931:Nefh	APN	11	4941356	missense	possibly damaging	0.71
IGL03025:Nefh	APN	11	4945289	missense	probably damaging	0.99
FR4340:Nefh	UTSW	11	4941033	small insertion	probably benign
FR4340:Nefh	UTSW	11	4941038	small insertion	probably benign
FR4340:Nefh	UTSW	11	4941040	small insertion	probably benign
R0041:Nefh	UTSW	11	4945184	missense	possibly damaging	0.92
R0149:Nefh	UTSW	11	4940799	missense	probably benign	0.39
R0361:Nefh	UTSW	11	4940799	missense	probably benign	0.39
R0531:Nefh	UTSW	11	4940240	missense	probably damaging	1.00
R1340:Nefh	UTSW	11	4941002	small insertion	probably benign
R1349:Nefh	UTSW	11	4941010	small insertion	probably benign
R1469:Nefh	UTSW	11	4940066	missense	probably benign	0.20
R1469:Nefh	UTSW	11	4940066	missense	probably benign	0.20
R1564:Nefh	UTSW	11	4939878	missense	unknown
R2165:Nefh	UTSW	11	4943872	missense	probably damaging	1.00
R2417:Nefh	UTSW	11	4939479	missense	unknown
R2906:Nefh	UTSW	11	4940216	missense	probably benign	0.15
R3750:Nefh	UTSW	11	4939937	missense	probably benign	0.33
R4298:Nefh	UTSW	11	4940066	missense	probably benign
R4462:Nefh	UTSW	11	4941015	missense	probably damaging	0.98
R4713:Nefh	UTSW	11	4939656	missense	unknown
R5423:Nefh	UTSW	11	4940985	missense	possibly damaging	0.59
R5648:Nefh	UTSW	11	4945233	missense	probably damaging	1.00
R5893:Nefh	UTSW	11	4941323	missense	probably damaging	1.00
R6459:Nefh	UTSW	11	4939551	missense	unknown
R7583:Nefh	UTSW	11	4941089	missense	probably damaging	0.96
R8557:Nefh	UTSW	11	4941233	missense	probably damaging	0.98
R8925:Nefh	UTSW	11	4940530	small deletion	probably benign
R8982:Nefh	UTSW	11	4947549	missense	probably damaging	1.00
R9101:Nefh	UTSW	11	4940925	missense	probably damaging	0.97
R9291:Nefh	UTSW	11	4940871	missense	probably benign	0.39
R9576:Nefh	UTSW	11	4941222	missense	possibly damaging	0.91
R9616:Nefh	UTSW	11	4939443	nonsense	probably null
R9709:Nefh	UTSW	11	4940042	missense	probably benign	0.44
R9781:Nefh	UTSW	11	4945271	missense	probably damaging	1.00
RF001:Nefh	UTSW	11	4941030	small insertion	probably benign
RF002:Nefh	UTSW	11	4941047	small insertion	probably benign
RF002:Nefh	UTSW	11	4941050	small insertion	probably benign
RF009:Nefh	UTSW	11	4940997	small insertion	probably benign
RF012:Nefh	UTSW	11	4941030	small insertion	probably benign
RF012:Nefh	UTSW	11	4941032	small insertion	probably benign
RF012:Nefh	UTSW	11	4941055	small insertion	probably benign
RF013:Nefh	UTSW	11	4941032	small insertion	probably benign
RF016:Nefh	UTSW	11	4941022	small insertion	probably benign
RF016:Nefh	UTSW	11	4941023	small insertion	probably benign
RF025:Nefh	UTSW	11	4941003	small insertion	probably benign
RF025:Nefh	UTSW	11	4941029	small insertion	probably benign
RF028:Nefh	UTSW	11	4941012	small insertion	probably benign
RF028:Nefh	UTSW	11	4941029	small insertion	probably benign
RF033:Nefh	UTSW	11	4941029	frame shift	probably null
RF033:Nefh	UTSW	11	4941039	small insertion	probably benign
RF035:Nefh	UTSW	11	4941039	small insertion	probably benign
RF036:Nefh	UTSW	11	4941010	small insertion	probably benign
RF036:Nefh	UTSW	11	4941016	small insertion	probably benign
RF036:Nefh	UTSW	11	4941036	small insertion	probably benign
RF036:Nefh	UTSW	11	4941048	small insertion	probably benign
RF037:Nefh	UTSW	11	4940999	small insertion	probably benign
RF037:Nefh	UTSW	11	4941046	small insertion	probably benign
RF037:Nefh	UTSW	11	4941054	small insertion	probably benign
RF038:Nefh	UTSW	11	4941012	small insertion	probably benign
RF038:Nefh	UTSW	11	4941018	small insertion	probably benign
RF038:Nefh	UTSW	11	4941019	small insertion	probably benign
RF038:Nefh	UTSW	11	4941027	small insertion	probably benign
RF038:Nefh	UTSW	11	4941029	small insertion	probably benign
RF038:Nefh	UTSW	11	4941040	small insertion	probably benign
RF039:Nefh	UTSW	11	4941007	small insertion	probably benign
RF041:Nefh	UTSW	11	4941039	small insertion	probably benign
RF043:Nefh	UTSW	11	4941016	small insertion	probably benign
RF044:Nefh	UTSW	11	4941016	small insertion	probably benign
RF044:Nefh	UTSW	11	4941021	small insertion	probably benign
RF044:Nefh	UTSW	11	4941023	small insertion	probably benign
RF047:Nefh	UTSW	11	4941038	small insertion	probably benign
RF048:Nefh	UTSW	11	4941003	small insertion	probably benign
RF048:Nefh	UTSW	11	4941007	small insertion	probably benign
RF049:Nefh	UTSW	11	4940997	small insertion	probably benign
RF051:Nefh	UTSW	11	4941054	small insertion	probably benign
RF053:Nefh	UTSW	11	4941014	nonsense	probably null
RF054:Nefh	UTSW	11	4941048	small insertion	probably benign
RF055:Nefh	UTSW	11	4941004	small insertion	probably benign
RF058:Nefh	UTSW	11	4941021	small insertion	probably benign
RF060:Nefh	UTSW	11	4941050	small insertion	probably benign
RF060:Nefh	UTSW	11	4941052	small insertion	probably benign
RF062:Nefh	UTSW	11	4941028	small insertion	probably benign
T0975:Nefh	UTSW	11	4940151	missense	probably benign	0.00
Z1186:Nefh	UTSW	11	4940530	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGAGATGCAGCCTCTTCTG -3'
(R):5'- TGTCCCTGCACATACTAGGG -3'

Sequencing Primer
(F):5'- CCTCTTCTGCAGGGGGAGATG -3'
(R):5'- TGCACATACTAGGGCTTCAG -3'

Posted On

2016-03-17