Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Nefm'

419396

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nefm

Ensembl Gene

ENSMUSG00000022054

Gene Name

neurofilament, medium polypeptide

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

68082590-68124846 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 68120279 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106718 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000022638
AA Change: S769G

SMART Domains

Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: S769G

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

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

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Cers2	A	G	3: 95,321,352	D162G	probably damaging	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Patj	C	T	4: 98,443,803	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,162,438		probably benign	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Slco1a4	A	C	6: 141,817,859	M377R	probably damaging	Het
Slco1a4	A	T	6: 141,819,603	D304E	probably benign	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zbbx	T	C	3: 75,078,560	D395G	probably benign	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	Het

Other mutations in Nefm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02281:Nefm	APN	14	68124464	missense	probably damaging	1.00
IGL02379:Nefm	APN	14	68120239	intron	probably benign
IGL02664:Nefm	APN	14	68120215	intron	probably benign
IGL03328:Nefm	APN	14	68121290	missense	probably benign	0.28
IGL03055:Nefm	UTSW	14	68122909	missense	probably damaging	0.98
P0025:Nefm	UTSW	14	68120965	intron	probably benign
R0055:Nefm	UTSW	14	68121199	intron	probably benign
R0055:Nefm	UTSW	14	68121199	intron	probably benign
R0111:Nefm	UTSW	14	68124542	missense	probably benign	0.43
R0240:Nefm	UTSW	14	68121134	nonsense	probably null
R0240:Nefm	UTSW	14	68121134	nonsense	probably null
R0480:Nefm	UTSW	14	68124159	missense	probably damaging	1.00
R0505:Nefm	UTSW	14	68124159	missense	probably damaging	1.00
R0565:Nefm	UTSW	14	68124621	missense	probably damaging	1.00
R1454:Nefm	UTSW	14	68121379	missense	probably damaging	1.00
R1902:Nefm	UTSW	14	68124114	missense	probably benign	0.02
R2680:Nefm	UTSW	14	68123786	missense	probably damaging	1.00
R3763:Nefm	UTSW	14	68124348	missense	probably damaging	1.00
R4996:Nefm	UTSW	14	68121121	intron	probably benign
R5426:Nefm	UTSW	14	68120066	intron	probably benign
R5613:Nefm	UTSW	14	68121134	nonsense	probably null
R5989:Nefm	UTSW	14	68124329	missense	probably benign	0.16
R7255:Nefm	UTSW	14	68116000	missense	probably benign	0.08

Posted On

2016-08-02