Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01161:Nsf'

53854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsf

Ensembl Gene

ENSMUSG00000034187

Gene Name

N-ethylmaleimide sensitive fusion protein

Synonyms

N-ethylmaleimide sensitive factor, SKD2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

103712608-103844882 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 103752711 bp (GRCm39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,535,463 (GRCm39)	D543E	probably benign	Het
Acad9	A	C	3: 36,144,274 (GRCm39)	N583T	possibly damaging	Het
Arhgap5	G	A	12: 52,563,643 (GRCm39)	V205M	probably damaging	Het
Arid1b	G	A	17: 5,392,674 (GRCm39)	R2068Q	probably damaging	Het
Bex3	T	C	X: 135,172,218 (GRCm39)	F60S	probably damaging	Het
Casd1	C	T	6: 4,619,833 (GRCm39)	P193S	possibly damaging	Het
Ceacam11	A	T	7: 17,712,435 (GRCm39)	I295F	possibly damaging	Het
Ceacam3	T	A	7: 16,885,782 (GRCm39)	N128K	probably benign	Het
Cyp1a2	C	T	9: 57,587,176 (GRCm39)	E372K	probably damaging	Het
Ddb1	T	G	19: 10,583,071 (GRCm39)	M1R	probably null	Het
Ecel1	T	C	1: 87,080,915 (GRCm39)	D329G	possibly damaging	Het
Fat2	T	C	11: 55,175,017 (GRCm39)	N1899D	probably benign	Het
Gli3	A	G	13: 15,722,983 (GRCm39)		probably null	Het
Gm20507	A	T	17: 33,863,727 (GRCm39)		probably benign	Het
Gml	T	G	15: 74,685,688 (GRCm39)	Y99S	probably damaging	Het
Gpr119	G	T	X: 47,762,125 (GRCm39)		probably benign	Het
Hcn1	T	C	13: 117,793,458 (GRCm39)	Y237H	unknown	Het
Hook2	G	A	8: 85,721,560 (GRCm39)	V273I	probably benign	Het
Il12rb2	T	C	6: 67,338,849 (GRCm39)		probably benign	Het
Kdm2a	A	G	19: 4,369,279 (GRCm39)	F1112S	probably benign	Het
Lpl	A	T	8: 69,345,277 (GRCm39)	K94*	probably null	Het
Lrrc8a	T	A	2: 30,145,822 (GRCm39)	L212Q	probably damaging	Het
Me2	A	T	18: 73,903,887 (GRCm39)		probably benign	Het
Mmp11	A	T	10: 75,762,655 (GRCm39)	M266K	probably benign	Het
Mprip	T	A	11: 59,622,399 (GRCm39)	V162E	possibly damaging	Het
Or56b2	T	C	7: 104,337,588 (GRCm39)	V122A	probably benign	Het
Pcif1	T	A	2: 164,727,708 (GRCm39)	L167H	probably damaging	Het
Reps1	T	C	10: 17,969,643 (GRCm39)	S249P	probably damaging	Het
Sdf4	T	A	4: 156,093,763 (GRCm39)	M299K	probably benign	Het
Slc30a7	A	G	3: 115,747,759 (GRCm39)	V344A	possibly damaging	Het
Svep1	G	A	4: 58,146,569 (GRCm39)	P358S	probably damaging	Het
Syt9	G	T	7: 107,024,356 (GRCm39)	R83L	probably damaging	Het
Tbc1d15	T	C	10: 115,038,435 (GRCm39)	I593V	probably benign	Het
Trio	T	A	15: 27,749,867 (GRCm39)	N1134I	probably damaging	Het
Trpv3	A	G	11: 73,187,544 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,273,273 (GRCm39)	I449L	possibly damaging	Het
Usp24	C	A	4: 106,294,041 (GRCm39)	H2595N	probably benign	Het
Vat1l	A	G	8: 115,096,629 (GRCm39)	N370S	possibly damaging	Het
Wwc1	C	A	11: 35,758,103 (GRCm39)	D748Y	probably damaging	Het
Zfyve9	G	A	4: 108,538,261 (GRCm39)	H1002Y	probably damaging	Het

Other mutations in Nsf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Nsf	APN	11	103,763,473 (GRCm39)	missense	probably damaging	0.97
IGL01994:Nsf	APN	11	103,819,608 (GRCm39)	missense	probably damaging	0.98
IGL02141:Nsf	APN	11	103,719,351 (GRCm39)	missense	probably benign	0.02
IGL02663:Nsf	APN	11	103,821,641 (GRCm39)	missense	probably benign	0.04
IGL02871:Nsf	APN	11	103,752,882 (GRCm39)	splice site	probably benign
uhaul	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R0180:Nsf	UTSW	11	103,821,606 (GRCm39)	missense	probably damaging	1.00
R0880:Nsf	UTSW	11	103,804,198 (GRCm39)	missense	possibly damaging	0.72
R1146:Nsf	UTSW	11	103,719,364 (GRCm39)	missense	probably damaging	1.00
R1146:Nsf	UTSW	11	103,719,364 (GRCm39)	missense	probably damaging	1.00
R1203:Nsf	UTSW	11	103,816,952 (GRCm39)	unclassified	probably benign
R1873:Nsf	UTSW	11	103,749,843 (GRCm39)	missense	probably damaging	1.00
R1951:Nsf	UTSW	11	103,773,702 (GRCm39)	nonsense	probably null
R2163:Nsf	UTSW	11	103,754,159 (GRCm39)	missense	possibly damaging	0.64
R2193:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2194:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2287:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2289:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2343:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2345:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2346:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2347:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2350:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2405:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2406:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2407:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2408:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2409:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2411:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2435:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2924:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2925:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R2987:Nsf	UTSW	11	103,749,869 (GRCm39)	splice site	probably null
R3177:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R3277:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R3741:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R3742:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R3845:Nsf	UTSW	11	103,821,578 (GRCm39)	missense	possibly damaging	0.59
R4278:Nsf	UTSW	11	103,821,632 (GRCm39)	missense	probably damaging	0.96
R4717:Nsf	UTSW	11	103,714,595 (GRCm39)	missense	probably damaging	1.00
R4775:Nsf	UTSW	11	103,763,419 (GRCm39)	missense	possibly damaging	0.93
R4915:Nsf	UTSW	11	103,801,185 (GRCm39)	unclassified	probably benign
R4918:Nsf	UTSW	11	103,801,185 (GRCm39)	unclassified	probably benign
R5090:Nsf	UTSW	11	103,801,404 (GRCm39)	missense	probably benign	0.00
R5126:Nsf	UTSW	11	103,773,618 (GRCm39)	nonsense	probably null
R5411:Nsf	UTSW	11	103,773,637 (GRCm39)	missense	probably damaging	1.00
R5560:Nsf	UTSW	11	103,754,081 (GRCm39)	missense	possibly damaging	0.47
R6344:Nsf	UTSW	11	103,752,730 (GRCm39)	missense	probably damaging	1.00
R6596:Nsf	UTSW	11	103,801,283 (GRCm39)	missense	probably damaging	0.98
R7155:Nsf	UTSW	11	103,719,356 (GRCm39)	nonsense	probably null
R7272:Nsf	UTSW	11	103,718,064 (GRCm39)	missense	probably damaging	1.00
R7769:Nsf	UTSW	11	103,819,665 (GRCm39)	missense	probably damaging	1.00
R8323:Nsf	UTSW	11	103,819,665 (GRCm39)	missense	probably benign	0.05
R8487:Nsf	UTSW	11	103,819,584 (GRCm39)	missense	probably damaging	1.00
R8856:Nsf	UTSW	11	103,821,568 (GRCm39)	missense	possibly damaging	0.69
R9253:Nsf	UTSW	11	103,804,142 (GRCm39)	missense	probably null	1.00
R9476:Nsf	UTSW	11	103,763,988 (GRCm39)	missense	probably damaging	1.00
R9509:Nsf	UTSW	11	103,754,074 (GRCm39)	missense	probably benign	0.19
R9510:Nsf	UTSW	11	103,763,988 (GRCm39)	missense	probably damaging	1.00
R9520:Nsf	UTSW	11	103,804,709 (GRCm39)	missense	probably damaging	1.00
R9546:Nsf	UTSW	11	103,801,275 (GRCm39)	nonsense	probably null
R9632:Nsf	UTSW	11	103,714,594 (GRCm39)	missense	probably damaging	1.00
R9779:Nsf	UTSW	11	103,719,352 (GRCm39)	missense	probably damaging	0.99
X0066:Nsf	UTSW	11	103,714,566 (GRCm39)	missense	probably benign
Z1176:Nsf	UTSW	11	103,801,380 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28