Mutagenetix > Incidental Mutation

Incidental Mutation 'R7255:Nefm'

564222

Institutional Source

Beutler Lab

Gene Symbol

Nefm

Ensembl Gene

ENSMUSG00000022054

Gene Name

neurofilament, medium polypeptide

Synonyms

NF-M, Nfm, neurofilament-M, NF160, NF165, Nef3

MMRRC Submission

045316-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68356994-68362453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68353449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 406 (F406L)

Ref Sequence

ENSEMBL: ENSMUSP00000106718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022638] [ENSMUST00000111089]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022638

SMART Domains

Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054

Domain	Start	End	E-Value	Type
Pfam:Filament_head	9	97	2.6e-18	PFAM
Filament	98	409	1.16e-131	SMART
coiled coil region	460	533	N/A	INTRINSIC
low complexity region	540	604	N/A	INTRINSIC
low complexity region	608	668	N/A	INTRINSIC
low complexity region	703	719	N/A	INTRINSIC
low complexity region	736	754	N/A	INTRINSIC
low complexity region	777	796	N/A	INTRINSIC
low complexity region	816	824	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111089
AA Change: F406L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
AA Change: F406L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced axon diameter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,692,092 (GRCm39)	S234P	probably damaging	Het
Arhgap28	T	C	17: 68,159,999 (GRCm39)	H650R	probably damaging	Het
Asic1	A	G	15: 99,595,338 (GRCm39)	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,689,939 (GRCm39)	S598C	probably damaging	Het
Bcat1	C	A	6: 144,978,511 (GRCm39)	E237*	probably null	Het
Btbd16	A	T	7: 130,387,722 (GRCm39)	I114F	probably benign	Het
Casp2	A	G	6: 42,245,841 (GRCm39)	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cpsf1	G	A	15: 76,481,743 (GRCm39)	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,200,455 (GRCm39)	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,044,366 (GRCm39)	I168T	probably damaging	Het
Dip2b	G	A	15: 100,107,508 (GRCm39)	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,278,884 (GRCm39)	K201R	probably benign	Het
Dock10	C	T	1: 80,520,816 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,567,034 (GRCm39)	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,230,330 (GRCm39)	R325Q	probably benign	Het
Enpp1	A	T	10: 24,521,213 (GRCm39)	I838K	possibly damaging	Het
Fcna	T	G	2: 25,516,040 (GRCm39)	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,765 (GRCm39)	G840C	probably damaging	Het
Flt1	C	T	5: 147,517,216 (GRCm39)	A1024T	probably damaging	Het
Galc	T	C	12: 98,212,514 (GRCm39)	K207R	probably null	Het
Gbp2b	T	A	3: 142,313,878 (GRCm39)	L386Q	probably damaging	Het
Gm8297	T	A	14: 16,165,868 (GRCm39)	N48K	probably damaging	Het
Gm9639	G	A	10: 77,630,372 (GRCm39)	P180L	unknown	Het
Inpp5a	A	G	7: 139,091,364 (GRCm39)	N116S	probably damaging	Het
Ipo9	T	C	1: 135,313,726 (GRCm39)	E984G	probably benign	Het
Klra4	A	G	6: 130,036,605 (GRCm39)	F145L	probably damaging	Het
Lag3	A	G	6: 124,887,198 (GRCm39)	L123P	probably benign	Het
Lyz3	T	C	10: 117,070,327 (GRCm39)	H150R	probably benign	Het
Med7	T	A	11: 46,331,822 (GRCm39)	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,845,814 (GRCm39)	L153R	possibly damaging	Het
Mup9	A	G	4: 60,377,336 (GRCm39)	V71A	probably benign	Het
Myo16	A	T	8: 10,549,169 (GRCm39)	Q927L	unknown	Het
Myo9b	T	C	8: 71,743,535 (GRCm39)	Y199H	probably damaging	Het
Or10ag2	T	A	2: 87,249,286 (GRCm39)	L296Q	probably damaging	Het
Or10ak11	A	T	4: 118,687,149 (GRCm39)	F162I	probably benign	Het
Pamr1	T	C	2: 102,441,929 (GRCm39)	F173L	probably damaging	Het
Pds5b	T	A	5: 150,720,132 (GRCm39)	D1205E	probably benign	Het
Plxna2	T	G	1: 194,434,411 (GRCm39)	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045 (GRCm39)	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,603,311 (GRCm39)	F412S	probably benign	Het
Prcc	A	T	3: 87,777,398 (GRCm39)	V192E	probably damaging	Het
Psg19	A	G	7: 18,527,973 (GRCm39)	Y257H	probably benign	Het
Rfx7	T	G	9: 72,527,110 (GRCm39)	S1433R	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Sanbr	G	A	11: 23,570,465 (GRCm39)	P145L	probably benign	Het
Sbspon	G	T	1: 15,954,021 (GRCm39)	C86*	probably null	Het
Sdhb	A	G	4: 140,704,729 (GRCm39)	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,432,336 (GRCm39)	T581A	probably benign	Het
Shkbp1	G	T	7: 27,042,173 (GRCm39)	T594K	possibly damaging	Het
Shpk	A	G	11: 73,090,486 (GRCm39)	S48G	probably benign	Het
Slc1a3	A	G	15: 8,672,483 (GRCm39)	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,311,384 (GRCm39)	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,745,493 (GRCm39)	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,515,051 (GRCm39)	T649A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats1	T	A	17: 45,765,131 (GRCm39)	D163V	probably damaging	Het
Ssh2	T	A	11: 77,316,419 (GRCm39)	M304K	probably damaging	Het
Sulf1	T	A	1: 12,929,232 (GRCm39)	D166E	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,604,330 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,658,415 (GRCm39)	M1477K	probably benign	Het
Tlr5	T	C	1: 182,801,881 (GRCm39)	F395S	probably damaging	Het
Trrap	T	C	5: 144,795,764 (GRCm39)	L3847P	probably damaging	Het
Tsks	C	T	7: 44,602,112 (GRCm39)	S276L	probably benign	Het
Uggt1	T	C	1: 36,185,187 (GRCm39)	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,631,703 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,696,239 (GRCm39)	V2768A		Het
Wdr26	A	C	1: 181,008,889 (GRCm39)	I627R	probably benign	Het
Zfp160	T	A	17: 21,245,749 (GRCm39)	S100T	probably benign	Het

Other mutations in Nefm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02281:Nefm	APN	14	68,361,913 (GRCm39)	missense	probably damaging	1.00
IGL02379:Nefm	APN	14	68,357,688 (GRCm39)	intron	probably benign
IGL02664:Nefm	APN	14	68,357,664 (GRCm39)	intron	probably benign
IGL03115:Nefm	APN	14	68,357,728 (GRCm39)	intron	probably benign
IGL03328:Nefm	APN	14	68,358,739 (GRCm39)	missense	probably benign	0.28
IGL03055:Nefm	UTSW	14	68,360,358 (GRCm39)	missense	probably damaging	0.98
P0025:Nefm	UTSW	14	68,358,414 (GRCm39)	intron	probably benign
R0055:Nefm	UTSW	14	68,358,648 (GRCm39)	intron	probably benign
R0055:Nefm	UTSW	14	68,358,648 (GRCm39)	intron	probably benign
R0111:Nefm	UTSW	14	68,361,991 (GRCm39)	missense	probably benign	0.43
R0240:Nefm	UTSW	14	68,358,583 (GRCm39)	nonsense	probably null
R0240:Nefm	UTSW	14	68,358,583 (GRCm39)	nonsense	probably null
R0480:Nefm	UTSW	14	68,361,608 (GRCm39)	missense	probably damaging	1.00
R0505:Nefm	UTSW	14	68,361,608 (GRCm39)	missense	probably damaging	1.00
R0565:Nefm	UTSW	14	68,362,070 (GRCm39)	missense	probably damaging	1.00
R1454:Nefm	UTSW	14	68,358,828 (GRCm39)	missense	probably damaging	1.00
R1902:Nefm	UTSW	14	68,361,563 (GRCm39)	missense	probably benign	0.02
R2680:Nefm	UTSW	14	68,361,235 (GRCm39)	missense	probably damaging	1.00
R3763:Nefm	UTSW	14	68,361,797 (GRCm39)	missense	probably damaging	1.00
R4996:Nefm	UTSW	14	68,358,570 (GRCm39)	intron	probably benign
R5426:Nefm	UTSW	14	68,357,515 (GRCm39)	intron	probably benign
R5613:Nefm	UTSW	14	68,358,583 (GRCm39)	nonsense	probably null
R5989:Nefm	UTSW	14	68,361,778 (GRCm39)	missense	probably benign	0.16
R8704:Nefm	UTSW	14	68,358,510 (GRCm39)	missense	unknown
R8775:Nefm	UTSW	14	68,362,108 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Nefm	UTSW	14	68,362,108 (GRCm39)	missense	probably damaging	1.00
R9250:Nefm	UTSW	14	68,358,570 (GRCm39)	intron	probably benign
R9720:Nefm	UTSW	14	68,358,793 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGTTATGCCTGCTATAGTGCTG -3'
(R):5'- GTGGCTTATATAACTTGCCCAAAG -3'

Sequencing Primer
(F):5'- TACAATATGTGTGAGCATGGGC -3'
(R):5'- CAGCTGTTTGACAACAGC -3'

Posted On

2019-06-26