Mutagenetix > Incidental Mutation

Incidental Mutation 'R2408:Nsf'

248104

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

040374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103712608-103844882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103821578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 26 (E26K)

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

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

AlphaFold

P46460

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103075
AA Change: E26K

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: E26K

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

possibly damaging
Transcript: ENSMUST00000149642
AA Change: E23K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: E23K

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

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,730,121 (GRCm39)	L103V	probably null	Het
BC051076	C	T	5: 88,111,684 (GRCm39)		noncoding transcript	Het
Ccdc191	A	T	16: 43,751,561 (GRCm39)	Q239L	probably benign	Het
Dennd4b	G	T	3: 90,178,882 (GRCm39)	G538*	probably null	Het
Dipk1a	T	C	5: 108,062,291 (GRCm39)	D78G	possibly damaging	Het
Dusp7	C	T	9: 106,246,361 (GRCm39)	A122V	probably benign	Het
Exd2	T	G	12: 80,531,015 (GRCm39)		probably benign	Het
Gm10782	C	A	13: 56,510,944 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hhipl1	T	A	12: 108,284,806 (GRCm39)	D386E	probably benign	Het
Hnf1a	C	T	5: 115,098,070 (GRCm39)		probably null	Het
Ifi204	A	G	1: 173,583,198 (GRCm39)	F340S	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Med26	T	C	8: 73,249,476 (GRCm39)	D541G	probably benign	Het
Mgam	T	A	6: 40,663,456 (GRCm39)	L1218Q	probably damaging	Het
Msh5	T	C	17: 35,264,095 (GRCm39)	D136G	probably damaging	Het
Nbl1	C	T	4: 138,810,843 (GRCm39)	C117Y	probably damaging	Het
Niban2	A	G	2: 32,813,482 (GRCm39)	Y565C	probably damaging	Het
Noct	T	C	3: 51,132,710 (GRCm39)		probably null	Het
Prmt2	A	T	10: 76,044,301 (GRCm39)	M417K	probably damaging	Het
Rptor	A	G	11: 119,748,277 (GRCm39)	E3G	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc13a5	A	G	11: 72,152,902 (GRCm39)	S60P	probably damaging	Het
Sycp1	T	C	3: 102,832,575 (GRCm39)	Y197C	probably damaging	Het
Tmem222	T	C	4: 132,998,335 (GRCm39)	H73R	possibly damaging	Het
Trmt1l	G	A	1: 151,315,267 (GRCm39)	G151D	possibly damaging	Het
Ttc16	A	G	2: 32,658,020 (GRCm39)	F409L	probably benign	Het
Ubap2l	T	C	3: 89,916,439 (GRCm39)	Q925R	probably null	Het
Ucn3	T	G	13: 3,991,413 (GRCm39)	I80L	probably benign	Het
Vwa3a	T	C	7: 120,372,517 (GRCm39)	S302P	probably benign	Het
Zfp804b	A	T	5: 7,229,410 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,848,937 (GRCm39)	E144G	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
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
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'- CAAGGTTTGACAGTGTAATGACAG -3'
(R):5'- CTACCCTGGAGGAAGAAACACG -3'

Sequencing Primer
(F):5'- GTTTGACAGTGTAATGACAGAAATGC -3'
(R):5'- TCAGGATGGAGGGACATTTACTAC -3'

Posted On

2014-11-11