Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Nefh'

375073

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF200, NF-H, NEFH

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

4888754-4898064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4891333 bp (GRCm39)

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: 144,340,415 (GRCm39)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,761,714 (GRCm39)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,255,302 (GRCm39)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,300,274 (GRCm39)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 120,845,172 (GRCm39)	L363*	probably null	Het
Cdh16	A	T	8: 105,344,696 (GRCm39)	D478E	probably damaging	Het
Cep295	A	T	9: 15,246,252 (GRCm39)	W735R	probably benign	Het
Cnnm2	C	T	19: 46,847,522 (GRCm39)	P682S	probably benign	Het
Daam2	C	A	17: 49,767,738 (GRCm39)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,984,543 (GRCm39)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,456,231 (GRCm39)		probably benign	Het
Efemp2	A	T	19: 5,530,789 (GRCm39)		probably benign	Het
Emilin1	A	G	5: 31,074,410 (GRCm39)	D217G	probably benign	Het
Enpep	A	T	3: 129,070,420 (GRCm39)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,931,625 (GRCm39)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,517,194 (GRCm39)		probably null	Het
Fbln2	T	C	6: 91,233,977 (GRCm39)		probably null	Het
Gga3	A	T	11: 115,482,147 (GRCm39)	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,255,177 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,523,234 (GRCm39)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,083,567 (GRCm39)	Y51C	probably benign	Het
Kif13b	T	C	14: 65,043,603 (GRCm39)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,689,923 (GRCm39)	I330V	probably damaging	Het
Klb	A	T	5: 65,505,833 (GRCm39)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,642,956 (GRCm39)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,508,717 (GRCm39)		probably benign	Het
Met	A	G	6: 17,549,058 (GRCm39)	D970G	probably damaging	Het
Mical3	A	T	6: 120,946,348 (GRCm39)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm39)	N97D	probably benign	Het
Msh5	G	A	17: 35,257,432 (GRCm39)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,387,292 (GRCm39)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,325,004 (GRCm39)	G970D	probably damaging	Het
Neb	T	C	2: 52,109,406 (GRCm39)	Y232C	probably damaging	Het
Notch3	C	T	17: 32,366,059 (GRCm39)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,587,323 (GRCm39)	C859S	probably benign	Het
Or1d2	T	C	11: 74,255,674 (GRCm39)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,646,518 (GRCm39)	F157V	probably benign	Het
Or5m3b	A	G	2: 85,871,799 (GRCm39)	I47V	probably benign	Het
Otud7b	T	A	3: 96,043,821 (GRCm39)		probably benign	Het
Pde1a	A	T	2: 79,708,483 (GRCm39)	S312T	probably benign	Het
Piwil1	G	T	5: 128,818,045 (GRCm39)	R94L	probably damaging	Het
Pnma2	G	A	14: 67,154,503 (GRCm39)	W309*	probably null	Het
Ppef2	A	C	5: 92,376,599 (GRCm39)		probably null	Het
Rabac1	T	A	7: 24,669,392 (GRCm39)	Q212L	possibly damaging	Het
Rad51	T	C	2: 118,950,973 (GRCm39)		probably benign	Het
Rbm48	A	T	5: 3,641,853 (GRCm39)		probably benign	Het
Rft1	C	T	14: 30,399,761 (GRCm39)	S315L	probably benign	Het
Rgs13	C	T	1: 144,047,217 (GRCm39)	M1I	probably null	Het
Rhbg	A	C	3: 88,154,760 (GRCm39)	S215A	probably benign	Het
Rufy2	A	T	10: 62,837,990 (GRCm39)	N379I	probably damaging	Het
Slc17a1	T	C	13: 24,064,637 (GRCm39)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,294,501 (GRCm39)	R308C	probably benign	Het
Smo	A	G	6: 29,753,570 (GRCm39)	T149A	probably benign	Het
Sqle	A	G	15: 59,187,934 (GRCm39)	K81E	probably benign	Het
Tfpi	A	G	2: 84,282,899 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,498,448 (GRCm39)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,808 (GRCm39)	M1149K	probably benign	Het
Utrn	T	A	10: 12,603,502 (GRCm39)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm39)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,699,031 (GRCm39)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,719,865 (GRCm39)	G184*	probably null	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
R4462:Nefh	UTSW	11	4,891,015 (GRCm39)	missense	probably damaging	0.98
R4713:Nefh	UTSW	11	4,889,656 (GRCm39)	missense	unknown
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'- TCTGGAGATGCAGCCTCTTCTG -3'
(R):5'- TGTCCCTGCACATACTAGGG -3'

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

Posted On

2016-03-17