Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Nefl'

555610

Institutional Source

Beutler Lab

Gene Symbol

Nefl

Ensembl Gene

ENSMUSG00000022055

Gene Name

neurofilament, light polypeptide

Synonyms

NF68, NF-L, Nfl, CMT2E

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4418001 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

68321312-68326544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68323979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 406 (V406M)

Ref Sequence

ENSEMBL: ENSMUSP00000022639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022639] [ENSMUST00000111089]

AlphaFold

P08551

Predicted Effect

probably damaging
Transcript: ENSMUST00000022639
AA Change: V406M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: V406M

Domain	Start	End	E-Value	Type
Pfam:Filament_head	9	88	7e-14	PFAM
Filament	89	400	6.93e-139	SMART
low complexity region	448	470	N/A	INTRINSIC
coiled coil region	473	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111089

SMART Domains

Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054

Domain	Start	End	E-Value	Type
Pfam:Filament_head	9	97	1.6e-16	PFAM
Pfam:Filament	98	403	1.1e-104	PFAM

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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 they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,816,630 (GRCm39)	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,161,961 (GRCm39)	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,074,587 (GRCm39)	I1049F	probably benign	Het
Atg9b	A	T	5: 24,590,513 (GRCm39)	S859T	possibly damaging	Het
Banp	G	A	8: 122,732,365 (GRCm39)	A380T	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,631,384 (GRCm39)	E1155G		Het
Capn12	T	C	7: 28,585,961 (GRCm39)	S270P	probably benign	Het
Cbs	A	T	17: 31,834,495 (GRCm39)	I498N	possibly damaging	Het
Cep68	T	C	11: 20,189,731 (GRCm39)	K427R	probably benign	Het
Cobl	G	A	11: 12,206,240 (GRCm39)	T545I	possibly damaging	Het
Cr2	T	A	1: 194,839,760 (GRCm39)	M556L	probably benign	Het
Crebbp	A	G	16: 3,932,689 (GRCm39)	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,766,590 (GRCm39)	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,008,999 (GRCm39)	L159P		Het
Dnajb4	A	T	3: 151,899,134 (GRCm39)	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,498,260 (GRCm39)	F369S	probably damaging	Het
Dtl	A	T	1: 191,273,429 (GRCm39)	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,022,877 (GRCm39)	Q612L	possibly damaging	Het
Efr3b	A	T	12: 4,030,490 (GRCm39)	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,003,494 (GRCm39)	Q1085L	probably damaging	Het
Ell	T	C	8: 71,034,331 (GRCm39)	V199A	probably damaging	Het
Elmod2	G	T	8: 84,048,171 (GRCm39)	T97K	probably benign	Het
Epn3	T	C	11: 94,386,956 (GRCm39)	E138G	probably damaging	Het
Esf1	A	T	2: 140,001,697 (GRCm39)	F383L	probably benign	Het
Fam193a	A	T	5: 34,597,879 (GRCm39)	T559S	probably damaging	Het
Galr2	T	C	11: 116,174,084 (GRCm39)	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411 (GRCm38)	I237M	probably benign	Het
Gm5160	A	T	18: 14,558,339 (GRCm39)	I139F	probably damaging	Het
Gpr15	T	C	16: 58,538,313 (GRCm39)	T259A	probably benign	Het
Iffo1	A	G	6: 125,126,746 (GRCm39)	K293E	possibly damaging	Het
Ikbip	T	A	10: 90,932,395 (GRCm39)	H346Q	probably benign	Het
Il4ra	G	A	7: 125,175,510 (GRCm39)	G573S	probably benign	Het
Ing2	A	T	8: 48,122,125 (GRCm39)	M141K	probably benign	Het
Itga6	T	C	2: 71,664,414 (GRCm39)	S517P	probably benign	Het
Itprid1	T	G	6: 55,945,330 (GRCm39)	S684A	probably damaging	Het
Kcnab1	A	G	3: 65,265,741 (GRCm39)	E295G	probably benign	Het
Klhl21	A	C	4: 152,099,835 (GRCm39)	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,714,553 (GRCm39)	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,717,052 (GRCm39)	L64F	probably null	Het
Mos	T	C	4: 3,870,814 (GRCm39)	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,775,591 (GRCm39)	F338V	probably damaging	Het
Nfam1	C	A	15: 82,885,689 (GRCm39)	R181L	probably damaging	Het
Ntn5	A	G	7: 45,335,925 (GRCm39)	R119G	probably damaging	Het
Or12e10	G	T	2: 87,640,938 (GRCm39)	C258F	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or7a40	T	C	16: 16,491,719 (GRCm39)	N42S	probably damaging	Het
Plch2	A	T	4: 155,073,960 (GRCm39)	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,504,266 (GRCm39)	Q111R	probably null	Het
Ptchd3	T	A	11: 121,732,566 (GRCm39)	Y485*	probably null	Het
Ptchd4	T	A	17: 42,813,980 (GRCm39)	I627N	probably damaging	Het
Retnlb	T	C	16: 48,637,631 (GRCm39)	V19A	probably benign	Het
Rimbp2	T	A	5: 128,857,425 (GRCm39)	T809S	probably benign	Het
Sema6c	T	A	3: 95,077,401 (GRCm39)	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,479,821 (GRCm39)	A631V	unknown	Het
Snai3	A	T	8: 123,183,073 (GRCm39)	H157Q	probably benign	Het
Snx15	T	C	19: 6,173,961 (GRCm39)	Y52C	probably damaging	Het
Strbp	T	C	2: 37,535,504 (GRCm39)	E68G	probably benign	Het
Sun1	T	A	5: 139,212,343 (GRCm39)	D155E	probably damaging	Het
Susd2	T	C	10: 75,474,183 (GRCm39)	D627G	probably benign	Het
Tas2r108	T	A	6: 40,470,614 (GRCm39)	I30K	probably damaging	Het
Tmc2	T	C	2: 130,090,571 (GRCm39)	V639A	probably damaging	Het
Trmt1	T	C	8: 85,424,299 (GRCm39)	Y445H	probably damaging	Het
Ttn	A	T	2: 76,597,554 (GRCm39)	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 11,910,766 (GRCm39)	V216G	probably damaging	Het
Wdr64	C	A	1: 175,571,160 (GRCm39)	Y331*	probably null	Het
Zfyve28	A	T	5: 34,390,721 (GRCm39)	V180E	probably damaging	Het
Zic4	C	T	9: 91,261,447 (GRCm39)	T234I	possibly damaging	Het

Other mutations in Nefl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Nefl	APN	14	68,323,931 (GRCm39)	intron	probably benign
IGL01755:Nefl	APN	14	68,323,526 (GRCm39)	missense	probably damaging	1.00
IGL02825:Nefl	APN	14	68,321,795 (GRCm39)	missense	possibly damaging	0.96
IGL03297:Nefl	APN	14	68,321,673 (GRCm39)	missense	possibly damaging	0.55
R0503:Nefl	UTSW	14	68,321,432 (GRCm39)	missense	probably benign	0.08
R1837:Nefl	UTSW	14	68,324,075 (GRCm39)	missense	probably damaging	1.00
R1970:Nefl	UTSW	14	68,324,121 (GRCm39)	missense	probably benign	0.20
R4812:Nefl	UTSW	14	68,321,734 (GRCm39)	missense	probably damaging	1.00
R4972:Nefl	UTSW	14	68,324,212 (GRCm39)	intron	probably benign
R5361:Nefl	UTSW	14	68,322,088 (GRCm39)	missense	probably damaging	0.99
R6357:Nefl	UTSW	14	68,321,767 (GRCm39)	missense	probably damaging	1.00
R6499:Nefl	UTSW	14	68,322,034 (GRCm39)	missense	probably damaging	1.00
R7571:Nefl	UTSW	14	68,322,123 (GRCm39)	missense	probably benign	0.00
R8086:Nefl	UTSW	14	68,323,480 (GRCm39)	missense	probably damaging	0.98
R9325:Nefl	UTSW	14	68,322,460 (GRCm39)	critical splice donor site	probably null
R9582:Nefl	UTSW	14	68,324,849 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTAATAGGGATGCATAGAAGGTC -3'
(R):5'- TAGCCTCAATGGTCTCCTCG -3'

Sequencing Primer
(F):5'- TGGGGTCTCTCGTGAACTCC -3'
(R):5'- GACCTCTGTCTGCTCTTCCTGG -3'

Posted On

2019-06-07