Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Nefh'

323434

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF200, NF-H, NEFH

MMRRC Submission

041086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4298 (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 4890066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 851 (I851T)

Ref Sequence

ENSEMBL: ENSMUSP00000091061 (fasta)

Gene Model

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

AlphaFold

P19246

Predicted Effect

probably benign
Transcript: ENSMUST00000093369
AA Change: I851T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: I851T

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Ccser2	T	A	14: 36,612,337 (GRCm39)	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,445,155 (GRCm39)	C469S	probably damaging	Het
Chmp7	A	T	14: 69,956,650 (GRCm39)		probably null	Het
Clcn4	C	T	7: 7,299,737 (GRCm39)	D31N	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,493,172 (GRCm39)	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,389,889 (GRCm39)	L498P	probably damaging	Het
Dsc3	A	T	18: 20,113,811 (GRCm39)	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Ebf3	C	T	7: 136,826,958 (GRCm39)	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,947,962 (GRCm39)		probably null	Het
Erich6	G	T	3: 58,531,712 (GRCm39)	A428D	probably benign	Het
Ext1	A	T	15: 53,208,521 (GRCm39)	I80N	probably benign	Het
Extl1	T	C	4: 134,084,969 (GRCm39)	E667G	probably damaging	Het
F2	T	G	2: 91,459,665 (GRCm39)		probably null	Het
Fbxw16	T	C	9: 109,275,625 (GRCm39)	I135V	probably benign	Het
Glipr1l1	A	T	10: 111,898,252 (GRCm39)	D119V	probably benign	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,882 (GRCm39)	R252H	possibly damaging	Het
Lyst	A	G	13: 13,809,472 (GRCm39)	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,298,444 (GRCm39)	V97D	possibly damaging	Het
Nf1	A	T	11: 79,275,070 (GRCm39)	I44F	probably damaging	Het
Nyap2	A	T	1: 81,218,811 (GRCm39)	I278F	probably damaging	Het
Or4c52	A	T	2: 89,845,993 (GRCm39)	T240S	probably benign	Het
Or4f7d-ps1	G	T	2: 111,674,789 (GRCm39)		noncoding transcript	Het
Pdcd4	C	A	19: 53,908,092 (GRCm39)	P201Q	probably damaging	Het
Pramel16	A	T	4: 143,675,713 (GRCm39)	L371*	probably null	Het
Prdm11	T	C	2: 92,823,728 (GRCm39)	T179A	probably benign	Het
Qrfpr	T	A	3: 36,243,703 (GRCm39)	I133F	probably damaging	Het
Rack1	T	C	11: 48,692,453 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sag	G	C	1: 87,772,737 (GRCm39)	D402H	probably benign	Het
Sbk3	T	A	7: 4,972,979 (GRCm39)	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3gl1	C	T	17: 56,326,173 (GRCm39)	G111D	probably damaging	Het
Spata20	G	A	11: 94,373,914 (GRCm39)	R379W	probably damaging	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stk39	C	T	2: 68,221,284 (GRCm39)	G213D	probably damaging	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Taf1d	T	C	9: 15,219,939 (GRCm39)	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,554,394 (GRCm39)	A30807D	probably damaging	Het
Unc119	A	G	11: 78,238,948 (GRCm39)	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,620,801 (GRCm39)	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,309,997 (GRCm39)	V87A	probably damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		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
R4462:Nefh	UTSW	11	4,891,015 (GRCm39)	missense	probably damaging	0.98
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'- AGAGTCCTTGGGCTTTTCCG -3'
(R):5'- AGGCCAAGTCTCCTGAGAAG -3'

Sequencing Primer
(F):5'- TCCACCTTGGGCTTCGG -3'
(R):5'- AGTCTCCTGAGAAGGCCAAGTC -3'

Posted On

2015-06-20