Mutagenetix > Incidental Mutation

Incidental Mutation 'R1349:Nefh'

156612

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF200, NF-H, NEFH

MMRRC Submission

039414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1349 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

4888754-4898064 bp(-) (GRCm39)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

T to TNNNNNNNNNNNNNNNNNN at 4891010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091061 (fasta)

Gene Model

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

AlphaFold

P19246

Predicted Effect

probably benign
Transcript: ENSMUST00000093369

SMART Domains

Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.8%

Validation Efficiency

98% (46/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	G	A	8: 125,587,992 (GRCm39)	T36I	possibly damaging	Het
Adcy2	T	A	13: 68,816,652 (GRCm39)	N778I	probably damaging	Het
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,467,218 (GRCm39)	M248K	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Ccdc157	A	T	11: 4,099,056 (GRCm39)	I48N	probably benign	Het
Cd209d	C	A	8: 3,928,515 (GRCm39)		probably benign	Het
Cecr2	G	A	6: 120,734,564 (GRCm39)	G613E	probably damaging	Het
Clspn	C	T	4: 126,457,770 (GRCm39)	A98V	probably benign	Het
Cntnap5b	G	A	1: 100,091,813 (GRCm39)	D499N	probably benign	Het
Cox7a2	G	A	9: 79,665,819 (GRCm39)	R21*	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dbpht2	C	CNNNNNNNNNNNNNNNNNN	12: 74,345,836 (GRCm39)		noncoding transcript	Het
Dlg1	T	C	16: 31,631,638 (GRCm39)	I208T	probably damaging	Het
Dmxl1	A	T	18: 50,021,920 (GRCm39)	N1612Y	probably damaging	Het
Epha3	A	G	16: 63,431,416 (GRCm39)	I495T	possibly damaging	Het
Frem1	T	C	4: 82,840,542 (GRCm39)		probably benign	Het
Glipr1	A	G	10: 111,829,437 (GRCm39)	V108A	probably benign	Het
Gpatch2l	T	C	12: 86,307,483 (GRCm39)	L287P	possibly damaging	Het
Hp	T	G	8: 110,301,938 (GRCm39)	K337Q	probably benign	Het
Htr1a	T	A	13: 105,581,874 (GRCm39)	C371*	probably null	Het
Leo1	T	C	9: 75,356,751 (GRCm39)	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,383,472 (GRCm39)	F583L	possibly damaging	Het
Map4k4	C	A	1: 40,060,319 (GRCm39)	P1103Q	probably damaging	Het
Mybph	T	C	1: 134,121,353 (GRCm39)	S38P	probably benign	Het
Myo1e	T	G	9: 70,194,351 (GRCm39)		probably benign	Het
Oca2	T	A	7: 56,185,716 (GRCm39)	M814K	probably benign	Het
Odad3	C	T	9: 21,904,916 (GRCm39)	R290H	probably damaging	Het
Pkd1	T	C	17: 24,794,240 (GRCm39)	C1976R	probably damaging	Het
Pogz	T	A	3: 94,768,199 (GRCm39)	L126M	probably damaging	Het
Rec8	T	C	14: 55,856,431 (GRCm39)	Y68H	probably damaging	Het
Ryr3	T	A	2: 112,664,546 (GRCm39)	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,256,160 (GRCm39)	W853R	probably damaging	Het
Slc6a7	C	T	18: 61,133,615 (GRCm39)	G527D	probably benign	Het
Spopfm1	A	G	3: 94,173,435 (GRCm39)	T148A	possibly damaging	Het
Tgm1	A	G	14: 55,948,658 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,929,267 (GRCm39)	V2770A	possibly damaging	Het
Togaram1	T	A	12: 65,057,919 (GRCm39)	M1502K	probably damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vmn2r102	A	T	17: 19,880,887 (GRCm39)		probably benign	Het
Vmn2r12	T	C	5: 109,234,452 (GRCm39)	M587V	probably benign	Het
Vmn2r63	A	G	7: 42,578,642 (GRCm39)	F84L	possibly damaging	Het
Wdr35	A	T	12: 9,069,870 (GRCm39)		probably benign	Het
Wdr73	C	A	7: 80,543,000 (GRCm39)	V176L	probably 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
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
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'- TGGAGACTTCACTGTAGCTGGAGAC -3'
(R):5'- ACTCCACAGAAAGCTCCTGGAAGG -3'

Sequencing Primer
(F):5'- gtagctggagacttgggc -3'
(R):5'- CCCAAGGTCAGgaaggagaag -3'

Posted On

2014-02-11