Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Nsf'

78766

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 #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

103712608-103844882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103763473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 377 (D377G)

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

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

AlphaFold

P46460

Predicted Effect

probably damaging
Transcript: ENSMUST00000103075
AA Change: D377G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: D377G

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,460,108 (GRCm39)	V196D	probably damaging	Het
Ago1	C	T	4: 126,353,610 (GRCm39)	V279M	probably damaging	Het
Bltp1	T	C	3: 37,027,601 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,966 (GRCm39)	D675G	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,708 (GRCm39)	Y291N	probably damaging	Het
Cdca5	T	C	19: 6,140,312 (GRCm39)	S158P	probably damaging	Het
Cdh8	A	G	8: 99,760,021 (GRCm39)	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,953,640 (GRCm39)		probably null	Het
Cyc1	C	T	15: 76,229,162 (GRCm39)	R143*	probably null	Het
Dcaf6	A	T	1: 165,216,293 (GRCm39)	S437T	probably benign	Het
Eif5b	A	G	1: 38,075,179 (GRCm39)	D552G	probably benign	Het
Epor	T	C	9: 21,870,593 (GRCm39)	D429G	probably damaging	Het
Farp2	A	G	1: 93,531,181 (GRCm39)	I560V	possibly damaging	Het
Fbxw21	T	A	9: 108,975,713 (GRCm39)	R228*	probably null	Het
Fyb1	T	C	15: 6,609,801 (GRCm39)	S125P	probably benign	Het
Gfm1	A	T	3: 67,382,086 (GRCm39)	Y720F	probably damaging	Het
Hspbap1	T	A	16: 35,645,681 (GRCm39)	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,090,153 (GRCm39)	R285G	probably damaging	Het
Kif12	G	A	4: 63,088,962 (GRCm39)	T153I	probably damaging	Het
Klhl31	T	C	9: 77,558,013 (GRCm39)	F243S	probably benign	Het
Large2	A	G	2: 92,199,676 (GRCm39)	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,491,550 (GRCm39)	V239A	probably damaging	Het
Mblac2	G	A	13: 81,898,266 (GRCm39)	R214H	probably damaging	Het
Mlf2	A	G	6: 124,911,654 (GRCm39)	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,519,483 (GRCm39)	Y134*	probably null	Het
Mtus1	T	C	8: 41,536,172 (GRCm39)	K515E	possibly damaging	Het
Nek1	A	G	8: 61,542,490 (GRCm39)	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241 (GRCm39)	N305S	probably benign	Het
Nrxn3	T	A	12: 89,499,782 (GRCm39)		probably null	Het
Pde4b	A	G	4: 102,344,599 (GRCm39)	E102G	probably damaging	Het
Pdlim4	G	T	11: 53,947,130 (GRCm39)	S56R	probably benign	Het
Poc5	T	C	13: 96,538,139 (GRCm39)	V268A	probably benign	Het
Sec23b	A	C	2: 144,401,157 (GRCm39)	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,424,048 (GRCm39)		probably benign	Het
Slc16a12	T	A	19: 34,650,084 (GRCm39)	N317I	possibly damaging	Het
Slc1a7	A	T	4: 107,850,162 (GRCm39)	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,473,173 (GRCm39)	S86A	probably benign	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,636 (GRCm39)	S16P	probably benign	Het
Tmtc1	A	C	6: 148,147,285 (GRCm39)	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,321,371 (GRCm39)	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,288,855 (GRCm39)	D215E	probably damaging	Het

Other mutations in Nsf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Nsf	APN	11	103,752,711 (GRCm39)	splice site	probably benign
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

2013-11-05