Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Nefh'

605333

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 #

RF058 (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)

CCTC to CCTCGCCTGGGGACTTGGACTC at 4941021 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: 99.8%
3x: 99.7%
10x: 99.3%
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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	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	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
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'- TGGAGACTTCACTGTAGCTGG -3'
(R):5'- ATTGGCTTTGGTCCGAGTCC -3'

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

Posted On

2019-12-04