Mutagenetix > Incidental Mutation

Incidental Mutation 'R0880:Nsf'

80478

Institutional Source

Beutler Lab

Gene Symbol

Nsf

Ensembl Gene

ENSMUSG00000034187

Gene Name

N-ethylmaleimide sensitive fusion protein

Synonyms

N-ethylmaleimide sensitive factor, SKD2

MMRRC Submission

039047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103712608-103844882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103804198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 178 (V178D)

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

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

AlphaFold

P46460

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103075
AA Change: V178D

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: V178D

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
AA Change: V143D

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133591
Gene: ENSMUSG00000034187
AA Change: V143D

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,537,609 (GRCm39)	Y701H	possibly damaging	Het
Akap6	A	G	12: 53,186,291 (GRCm39)	D1235G	possibly damaging	Het
Arhgef18	A	G	8: 3,439,032 (GRCm39)		probably benign	Het
Astn2	A	G	4: 65,566,567 (GRCm39)	Y812H	probably damaging	Het
Bmpr1b	G	T	3: 141,576,557 (GRCm39)	S92*	probably null	Het
Camsap2	T	C	1: 136,208,708 (GRCm39)	D934G	probably benign	Het
Cdh23	A	G	10: 60,242,200 (GRCm39)	V1076A	possibly damaging	Het
Cdhr1	T	C	14: 36,802,591 (GRCm39)	D624G	possibly damaging	Het
Cfap57	A	T	4: 118,439,035 (GRCm39)	Y830*	probably null	Het
Eml3	A	G	19: 8,918,279 (GRCm39)	D790G	possibly damaging	Het
Ess2	A	G	16: 17,729,051 (GRCm39)	V40A	probably damaging	Het
Gucy2c	T	C	6: 136,686,830 (GRCm39)		probably null	Het
Helz2	A	C	2: 180,877,928 (GRCm39)	S957A	probably benign	Het
Ifi209	T	A	1: 173,472,379 (GRCm39)	S407T	probably damaging	Het
Iftap	T	A	2: 101,406,455 (GRCm39)	T158S	probably benign	Het
Muc6	T	C	7: 141,217,270 (GRCm39)	T2403A	possibly damaging	Het
Nfe2	T	C	15: 103,157,689 (GRCm39)	N101D	probably damaging	Het
P4ha3	A	G	7: 99,955,116 (GRCm39)	T324A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Rhbdf1	T	C	11: 32,163,432 (GRCm39)		probably null	Het
Samd9l	G	A	6: 3,377,064 (GRCm39)	L66F	probably damaging	Het
Speg	T	C	1: 75,381,705 (GRCm39)	F1024S	probably damaging	Het
Sspo	A	G	6: 48,452,869 (GRCm39)	N2859S	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,733 (GRCm39)	W115*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGAACTGGGCACTCCAGCTAAAG -3'
(R):5'- TGAAGACAGACCTTGCCATGTCG -3'

Sequencing Primer
(F):5'- CTCCAGCTAAAGGCTTGAGATTG -3'
(R):5'- ACCTTGCCATGTCGGGATTG -3'

Posted On

2013-11-07