Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Nefh'

602570

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF-H, NEFH, NF200

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

4938754-4948064 bp(-) (GRCm38)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

GGGGACTTGGCCTC to GGGGACTTGGCCTCACCTAGGGACTTGGCCTC at 4941047 bp (GRCm38)

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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	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
R4878:Nefh	UTSW	11	4941333	missense	probably damaging	0.98
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	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'- ACTGTAGCTGGAGACTTGGG -3'
(R):5'- ATTGGCTTTGGTCCGAGTCC -3'

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

Posted On

2019-12-04