Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02663:Nsf'

302623

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 #

IGL02663

Quality Score

Status

Chromosome

Chromosomal Location

103712608-103844882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103821641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000133603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103075] [ENSMUST00000133774] [ENSMUST00000149642]

AlphaFold

P46460

Predicted Effect

probably benign
Transcript: ENSMUST00000103075
AA Change: T5A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: T5A

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: ENSMUST00000107009

Predicted Effect

probably benign
Transcript: ENSMUST00000133774

SMART Domains

Protein: ENSMUSP00000133591
Gene: ENSMUSG00000034187

Domain	Start	End	E-Value	Type
Pfam:CDC48_N	1	51	1.5e-10	PFAM
CDC48_2	76	148	6.22e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145126

Predicted Effect

probably benign
Transcript: ENSMUST00000149642
AA Change: T2A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: T2A

Domain	Start	End	E-Value	Type
CDC48_N	2	76	6.51e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	C	3: 97,112,648 (GRCm39)	F1269C	probably damaging	Het
Cdc20b	T	A	13: 113,192,665 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,404,660 (GRCm39)		probably benign	Het
Creb5	A	G	6: 53,657,946 (GRCm39)	H236R	probably damaging	Het
Cyp17a1	A	G	19: 46,661,005 (GRCm39)	F93S	probably damaging	Het
Cyp4a32	T	A	4: 115,467,787 (GRCm39)	L257H	probably damaging	Het
Dnai3	A	T	3: 145,760,312 (GRCm39)	M692K	possibly damaging	Het
Fahd1	C	T	17: 25,068,478 (GRCm39)	G200R	probably damaging	Het
Ifit1	A	G	19: 34,618,380 (GRCm39)		probably benign	Het
Mfhas1	G	T	8: 36,057,060 (GRCm39)	V512L	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nfia	A	G	4: 97,929,856 (GRCm39)	T339A	probably benign	Het
Npas3	T	C	12: 54,115,691 (GRCm39)	L840P	probably damaging	Het
Or11g7	A	G	14: 50,691,309 (GRCm39)	T267A	probably benign	Het
Or14j10	A	T	17: 37,934,935 (GRCm39)	I197K	probably benign	Het
Or5b111	A	G	19: 13,290,743 (GRCm39)	V302A	probably benign	Het
P2rx2	C	T	5: 110,488,115 (GRCm39)	E480K	possibly damaging	Het
P2rx2	G	T	5: 110,488,052 (GRCm39)		probably null	Het
Ppp1r8	G	A	4: 132,560,419 (GRCm39)	T94I	probably damaging	Het
S100a11	A	T	3: 93,431,464 (GRCm39)	E33D	probably damaging	Het
Sec31b	C	A	19: 44,522,717 (GRCm39)	A92S	probably damaging	Het
Serpina3g	C	T	12: 104,205,399 (GRCm39)	T46I	possibly damaging	Het
Sgo2b	A	T	8: 64,396,148 (GRCm39)	I36N	probably damaging	Het
Slc35e1	A	G	8: 73,242,053 (GRCm39)	L223P	probably damaging	Het
St14	T	C	9: 31,011,678 (GRCm39)		probably null	Het
Sult2a8	A	G	7: 14,159,368 (GRCm39)	Y84H	possibly damaging	Het
Tas1r2	T	C	4: 139,387,593 (GRCm39)	Y322H	probably benign	Het
Tmem59	T	C	4: 107,054,738 (GRCm39)	L181P	probably damaging	Het
Trp73	A	G	4: 154,146,963 (GRCm39)		probably null	Het
Ube2h	A	G	6: 30,241,412 (GRCm39)	V86A	probably damaging	Het
Vmn2r22	A	T	6: 123,626,117 (GRCm39)	H106Q	probably benign	Het
Xirp2	T	C	2: 67,339,802 (GRCm39)	V681A	possibly 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
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
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

2015-04-16