Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Nefh'

660169

Institutional Source

Beutler Lab

Gene Symbol

Nefh

Ensembl Gene

ENSMUSG00000020396

Gene Name

neurofilament, heavy polypeptide

Synonyms

NF200, NF-H, NEFH

MMRRC Submission

068520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8557 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4888754-4898064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4891233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 462 (I462N)

Ref Sequence

ENSEMBL: ENSMUSP00000091061 (fasta)

Gene Model

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

AlphaFold

P19246

Predicted Effect

probably damaging
Transcript: ENSMUST00000093369
AA Change: I462N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: I462N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,055,954 (GRCm39)	V230A	probably benign	Het
Ablim2	A	T	5: 35,985,483 (GRCm39)	H260L	probably damaging	Het
Acp4	C	T	7: 43,905,272 (GRCm39)		probably null	Het
Acvr2b	G	T	9: 119,261,654 (GRCm39)	V416L	probably damaging	Het
Adipoq	A	T	16: 22,965,430 (GRCm39)		probably benign	Het
Amhr2	A	G	15: 102,362,847 (GRCm39)	Q538R	probably benign	Het
Apoh	C	T	11: 108,300,062 (GRCm39)	T237I	probably damaging	Het
Aspm	C	T	1: 139,384,494 (GRCm39)	T97I	probably benign	Het
Atg16l2	A	T	7: 100,939,863 (GRCm39)	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,886,536 (GRCm39)	R375H	probably benign	Het
C3	T	C	17: 57,531,383 (GRCm39)	T304A	probably benign	Het
Cast	A	T	13: 74,852,301 (GRCm39)	D647E	probably damaging	Het
Chrm2	T	C	6: 36,501,010 (GRCm39)	V289A	probably benign	Het
Clock	T	C	5: 76,377,217 (GRCm39)	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,427,438 (GRCm39)	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,114,062 (GRCm39)	L334P	probably damaging	Het
Dnah11	A	G	12: 117,842,247 (GRCm39)	I4444T	probably benign	Het
Egf	C	A	3: 129,548,600 (GRCm39)	R5L	unknown	Het
Ercc1	A	G	7: 19,082,480 (GRCm39)	N11S	probably benign	Het
Eri3	T	C	4: 117,472,520 (GRCm39)	S113P	possibly damaging	Het
Fasn	A	G	11: 120,706,610 (GRCm39)	V958A	probably benign	Het
Fgf10	A	G	13: 118,918,132 (GRCm39)	K140R	probably benign	Het
Gfra2	G	A	14: 71,214,737 (GRCm39)	M163I	probably benign	Het
Gm14403	T	C	2: 177,201,354 (GRCm39)	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,341,219 (GRCm39)	E977D	probably damaging	Het
Hectd4	A	G	5: 121,448,714 (GRCm39)	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,096,999 (GRCm39)	I170N	probably benign	Het
Limk2	A	G	11: 3,296,379 (GRCm39)	V356A	possibly damaging	Het
Map4	A	G	9: 109,893,370 (GRCm39)		probably null	Het
Mettl13	C	T	1: 162,371,921 (GRCm39)	G316D	possibly damaging	Het
Mia2	T	A	12: 59,148,274 (GRCm39)	L45I	probably damaging	Het
Mier1	T	A	4: 102,996,543 (GRCm39)		probably null	Het
Mob3a	G	T	10: 80,527,008 (GRCm39)	R106S	probably benign	Het
Mug2	T	A	6: 122,040,660 (GRCm39)	F737I	probably damaging	Het
Myo7a	C	T	7: 97,703,081 (GRCm39)	A2053T	probably benign	Het
Myrip	A	G	9: 120,246,252 (GRCm39)	S127G	probably benign	Het
Naaladl2	T	A	3: 24,262,528 (GRCm39)	K395I	probably benign	Het
Nedd4l	A	T	18: 65,336,986 (GRCm39)	M678L	probably benign	Het
Nfe2	A	G	15: 103,157,025 (GRCm39)	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,562 (GRCm39)	D71V	probably damaging	Het
Or56b1	T	A	7: 104,285,103 (GRCm39)	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,528,495 (GRCm39)	N288S	probably benign	Het
Sacs	G	A	14: 61,444,725 (GRCm39)	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,052,056 (GRCm39)	Q90K	probably damaging	Het
Shisal2a	T	A	4: 108,225,085 (GRCm39)	N159I	probably benign	Het
Slc30a6	A	G	17: 74,712,685 (GRCm39)	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,141,385 (GRCm39)	A234S	probably damaging	Het
Smg6	C	A	11: 75,047,064 (GRCm39)	N1252K	probably damaging	Het
Spata2	A	T	2: 167,326,227 (GRCm39)	D197E	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spocd1	T	C	4: 129,842,761 (GRCm39)	F59L	probably damaging	Het
Tectb	T	A	19: 55,181,105 (GRCm39)		probably benign	Het
Tnnc1	G	A	14: 30,932,562 (GRCm39)	V82I	probably damaging	Het
Traf7	A	T	17: 24,729,015 (GRCm39)	V513D	probably damaging	Het
Tut4	T	A	4: 108,399,908 (GRCm39)		probably null	Het
Vmn2r111	A	T	17: 22,790,910 (GRCm39)	Y129*	probably null	Het
Vrtn	T	A	12: 84,696,690 (GRCm39)	F480Y	probably benign	Het
Vwa8	A	T	14: 79,246,649 (GRCm39)	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,136 (GRCm39)	V401E	probably damaging	Het
Zfp655	A	T	5: 145,180,835 (GRCm39)	N231I	probably benign	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
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
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'- GGCCTCTTCTTTCACACGAG -3'
(R):5'- GCTCTGAGGTAACAGTGTATCCC -3'

Sequencing Primer
(F):5'- TCTTCTTTCACACGAGACTTGG -3'
(R):5'- GGTAACAGTGTATCCCATTATCCAC -3'

Posted On

2021-01-18