Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Nefm'

20472

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

038397-MU

Accession Numbers

Essential gene?

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

Stock #

R0111 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

68356994-68362453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68361991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000022638 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022638
AA Change: D91G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: D91G

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: D91G

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

SMART Domains

Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
AA Change: D91G

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

Meta Mutation Damage Score

0.1805

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Espnl	T	C	1: 91,272,464 (GRCm39)	M608T	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Ipo9	A	G	1: 135,333,662 (GRCm39)	V340A	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Or6c6c	T	A	10: 129,541,146 (GRCm39)	I133N	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Themis2	C	A	4: 132,517,236 (GRCm39)	R88L	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	probably damaging	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
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
R7255:Nefm	UTSW	14	68,353,449 (GRCm39)	missense	probably benign	0.08
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'- ATCTCCTGGTCGTAAGCATCACCC -3'
(R):5'- TCCAAGATGAGCTACACGCTGGAC -3'

Sequencing Primer
(F):5'- TGCACTTTCTCGATGTAGCCG -3'
(R):5'- TACACGCTGGACTCGCTG -3'

Posted On

2013-04-11