Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02871:Nsf'

362585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsf

Ensembl Gene

ENSMUSG00000034187

Gene Name

N-ethylmaleimide sensitive fusion protein

Synonyms

SKD2, N-ethylmaleimide sensitive factor

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02871

Quality Score

Status

Chromosome

Chromosomal Location

103821782-103954056 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103862056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103075]

AlphaFold

P46460

Predicted Effect

probably benign
Transcript: ENSMUST00000103075

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187

Domain	Start	End	E-Value	Type
CDC48_N	5	86	2.7e-16	SMART
CDC48_2	111	183	6.22e-7	SMART
AAA	252	399	3.65e-19	SMART
AAA	535	671	2.2e-13	SMART
low complexity region	674	683	N/A	INTRINSIC
low complexity region	698	711	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150516

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	C	A	13: 114,154,838	H179Q	probably benign	Het
Bin3	T	A	14: 70,128,905	C72*	probably null	Het
Brca2	C	T	5: 150,542,552	T1927I	probably benign	Het
Cap2	A	G	13: 46,525,492	D26G	probably benign	Het
Casz1	T	G	4: 148,944,319	S1074A	possibly damaging	Het
Chd5	C	T	4: 152,376,685	P1244L	probably damaging	Het
Exosc9	A	G	3: 36,565,281	N408S	probably benign	Het
Ezr	G	A	17: 6,742,390	Q352*	probably null	Het
Fbxl4	T	A	4: 22,386,213	D273E	probably benign	Het
Gm3269	A	T	14: 4,841,042	N193I	probably damaging	Het
Haus8	A	T	8: 71,256,494	M90K	probably benign	Het
Igkv5-39	A	T	6: 69,900,506	S89T	probably benign	Het
Nlrp4b	A	C	7: 10,715,265	D465A	probably benign	Het
Nt5c1b	G	A	12: 10,381,325	M409I	probably damaging	Het
Olfr1195	T	A	2: 88,683,084	Y216F	probably damaging	Het
Olfr1248	T	C	2: 89,618,160	I11V	probably benign	Het
Olfr199	T	A	16: 59,216,374	K80*	probably null	Het
Pga5	T	C	19: 10,671,780		probably benign	Het
Pigk	T	A	3: 152,766,516	I355K	probably damaging	Het
Prom1	T	C	5: 44,029,676	Y404C	probably damaging	Het
Ptprs	T	C	17: 56,447,443	E199G	probably damaging	Het
Sec24c	T	C	14: 20,692,882	S935P	probably benign	Het
Slc22a13	T	C	9: 119,196,011	T200A	probably benign	Het
Svep1	T	A	4: 58,100,871	I1264L	probably benign	Het
Tcf7l2	T	A	19: 55,918,997	C349S	probably damaging	Het
Thbs2	T	C	17: 14,685,786	H284R	probably benign	Het
Vmn2r19	C	T	6: 123,336,083	S704L	probably damaging	Het
Vmn2r50	A	G	7: 10,047,787	Y344H	possibly damaging	Het

Other mutations in Nsf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Nsf	APN	11	103861885	splice site	probably benign
IGL01377:Nsf	APN	11	103872647	missense	probably damaging	0.97
IGL01994:Nsf	APN	11	103928782	missense	probably damaging	0.98
IGL02141:Nsf	APN	11	103828525	missense	probably benign	0.02
IGL02663:Nsf	APN	11	103930815	missense	probably benign	0.04
uhaul	UTSW	11	103930752	missense	possibly damaging	0.59
R0180:Nsf	UTSW	11	103930780	missense	probably damaging	1.00
R0880:Nsf	UTSW	11	103913372	missense	possibly damaging	0.72
R1146:Nsf	UTSW	11	103828538	missense	probably damaging	1.00
R1146:Nsf	UTSW	11	103828538	missense	probably damaging	1.00
R1203:Nsf	UTSW	11	103926126	unclassified	probably benign
R1873:Nsf	UTSW	11	103859017	missense	probably damaging	1.00
R1951:Nsf	UTSW	11	103882876	nonsense	probably null
R2163:Nsf	UTSW	11	103863333	missense	possibly damaging	0.64
R2193:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2194:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2287:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2289:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2343:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2345:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2346:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2347:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2350:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2405:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2406:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2407:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2408:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2409:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2411:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2435:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2924:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2925:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2987:Nsf	UTSW	11	103859043	splice site	probably null
R3177:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3277:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3741:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3742:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3845:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R4278:Nsf	UTSW	11	103930806	missense	probably damaging	0.96
R4717:Nsf	UTSW	11	103823769	missense	probably damaging	1.00
R4775:Nsf	UTSW	11	103872593	missense	possibly damaging	0.93
R4915:Nsf	UTSW	11	103910359	unclassified	probably benign
R4918:Nsf	UTSW	11	103910359	unclassified	probably benign
R5090:Nsf	UTSW	11	103910578	missense	probably benign	0.00
R5126:Nsf	UTSW	11	103882792	nonsense	probably null
R5411:Nsf	UTSW	11	103882811	missense	probably damaging	1.00
R5560:Nsf	UTSW	11	103863255	missense	possibly damaging	0.47
R6344:Nsf	UTSW	11	103861904	missense	probably damaging	1.00
R6596:Nsf	UTSW	11	103910457	missense	probably damaging	0.98
R7155:Nsf	UTSW	11	103828530	nonsense	probably null
R7272:Nsf	UTSW	11	103827238	missense	probably damaging	1.00
R7769:Nsf	UTSW	11	103928839	missense	probably damaging	1.00
R8323:Nsf	UTSW	11	103928839	missense	probably benign	0.05
R8487:Nsf	UTSW	11	103928758	missense	probably damaging	1.00
R8856:Nsf	UTSW	11	103930742	missense	possibly damaging	0.69
R9253:Nsf	UTSW	11	103913316	missense	probably null	1.00
R9476:Nsf	UTSW	11	103873162	missense	probably damaging	1.00
R9509:Nsf	UTSW	11	103863248	missense	probably benign	0.19
R9510:Nsf	UTSW	11	103873162	missense	probably damaging	1.00
R9520:Nsf	UTSW	11	103913883	missense	probably damaging	1.00
R9546:Nsf	UTSW	11	103910449	nonsense	probably null
R9632:Nsf	UTSW	11	103823768	missense	probably damaging	1.00
R9779:Nsf	UTSW	11	103828526	missense	probably damaging	0.99
X0066:Nsf	UTSW	11	103823740	missense	probably benign
Z1176:Nsf	UTSW	11	103910554	missense	probably damaging	1.00

Posted On

2015-12-18