Mutagenetix > Incidental Mutation

Incidental Mutation 'R2347:Nsf'

246012

Institutional Source

Beutler Lab

Gene Symbol

Nsf

Ensembl Gene

ENSMUSG00000034187

Gene Name

N-ethylmaleimide sensitive fusion protein

Synonyms

SKD2, N-ethylmaleimide sensitive factor

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103821782-103954056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103930752 bp (GRCm38)

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ces1a	C	T	8: 93,025,319 (GRCm38)	V396M	probably benign	Het
Ddx6	A	G	9: 44,607,591 (GRCm38)	K67E	probably benign	Het
Fut2	T	C	7: 45,650,328 (GRCm38)	D340G	probably damaging	Het
Gm128	A	G	3: 95,240,930 (GRCm38)	Y18H	probably benign	Het
Gon4l	A	G	3: 88,863,517 (GRCm38)	D502G	probably damaging	Het
Lman2	T	A	13: 55,352,999 (GRCm38)	N129I	possibly damaging	Het
Olfr1263	G	T	2: 90,015,614 (GRCm38)	R228L	possibly damaging	Het
Olfr527	T	A	7: 140,336,147 (GRCm38)	M95K	probably damaging	Het
Olfr935	A	T	9: 38,994,509 (GRCm38)	*309K	probably null	Het
Pappa2	C	A	1: 158,765,043 (GRCm38)	C1588F	probably damaging	Het
Piwil2	T	C	14: 70,408,917 (GRCm38)	D390G	probably damaging	Het
Rest	A	G	5: 77,268,593 (GRCm38)	Y218C	probably damaging	Het

Other mutations in Nsf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Nsf	APN	11	103,861,885 (GRCm38)	splice site	probably benign
IGL01377:Nsf	APN	11	103,872,647 (GRCm38)	missense	probably damaging	0.97
IGL01994:Nsf	APN	11	103,928,782 (GRCm38)	missense	probably damaging	0.98
IGL02141:Nsf	APN	11	103,828,525 (GRCm38)	missense	probably benign	0.02
IGL02663:Nsf	APN	11	103,930,815 (GRCm38)	missense	probably benign	0.04
IGL02871:Nsf	APN	11	103,862,056 (GRCm38)	splice site	probably benign
uhaul	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R0180:Nsf	UTSW	11	103,930,780 (GRCm38)	missense	probably damaging	1.00
R0880:Nsf	UTSW	11	103,913,372 (GRCm38)	missense	possibly damaging	0.72
R1146:Nsf	UTSW	11	103,828,538 (GRCm38)	missense	probably damaging	1.00
R1146:Nsf	UTSW	11	103,828,538 (GRCm38)	missense	probably damaging	1.00
R1203:Nsf	UTSW	11	103,926,126 (GRCm38)	unclassified	probably benign
R1873:Nsf	UTSW	11	103,859,017 (GRCm38)	missense	probably damaging	1.00
R1951:Nsf	UTSW	11	103,882,876 (GRCm38)	nonsense	probably null
R2163:Nsf	UTSW	11	103,863,333 (GRCm38)	missense	possibly damaging	0.64
R2193:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2194:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2287:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2289:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2343:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2345:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2346:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2350:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2405:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2406:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2407:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2408:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2409:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2411:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2435:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2924:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2925:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R2987:Nsf	UTSW	11	103,859,043 (GRCm38)	splice site	probably null
R3177:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R3277:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R3741:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R3742:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R3845:Nsf	UTSW	11	103,930,752 (GRCm38)	missense	possibly damaging	0.59
R4278:Nsf	UTSW	11	103,930,806 (GRCm38)	missense	probably damaging	0.96
R4717:Nsf	UTSW	11	103,823,769 (GRCm38)	missense	probably damaging	1.00
R4775:Nsf	UTSW	11	103,872,593 (GRCm38)	missense	possibly damaging	0.93
R4915:Nsf	UTSW	11	103,910,359 (GRCm38)	unclassified	probably benign
R4918:Nsf	UTSW	11	103,910,359 (GRCm38)	unclassified	probably benign
R5090:Nsf	UTSW	11	103,910,578 (GRCm38)	missense	probably benign	0.00
R5126:Nsf	UTSW	11	103,882,792 (GRCm38)	nonsense	probably null
R5411:Nsf	UTSW	11	103,882,811 (GRCm38)	missense	probably damaging	1.00
R5560:Nsf	UTSW	11	103,863,255 (GRCm38)	missense	possibly damaging	0.47
R6344:Nsf	UTSW	11	103,861,904 (GRCm38)	missense	probably damaging	1.00
R6596:Nsf	UTSW	11	103,910,457 (GRCm38)	missense	probably damaging	0.98
R7155:Nsf	UTSW	11	103,828,530 (GRCm38)	nonsense	probably null
R7272:Nsf	UTSW	11	103,827,238 (GRCm38)	missense	probably damaging	1.00
R7769:Nsf	UTSW	11	103,928,839 (GRCm38)	missense	probably damaging	1.00
R8323:Nsf	UTSW	11	103,928,839 (GRCm38)	missense	probably benign	0.05
R8487:Nsf	UTSW	11	103,928,758 (GRCm38)	missense	probably damaging	1.00
R8856:Nsf	UTSW	11	103,930,742 (GRCm38)	missense	possibly damaging	0.69
R9253:Nsf	UTSW	11	103,913,316 (GRCm38)	missense	probably null	1.00
R9476:Nsf	UTSW	11	103,873,162 (GRCm38)	missense	probably damaging	1.00
R9509:Nsf	UTSW	11	103,863,248 (GRCm38)	missense	probably benign	0.19
R9510:Nsf	UTSW	11	103,873,162 (GRCm38)	missense	probably damaging	1.00
R9520:Nsf	UTSW	11	103,913,883 (GRCm38)	missense	probably damaging	1.00
R9546:Nsf	UTSW	11	103,910,449 (GRCm38)	nonsense	probably null
R9632:Nsf	UTSW	11	103,823,768 (GRCm38)	missense	probably damaging	1.00
R9779:Nsf	UTSW	11	103,828,526 (GRCm38)	missense	probably damaging	0.99
X0066:Nsf	UTSW	11	103,823,740 (GRCm38)	missense	probably benign
Z1176:Nsf	UTSW	11	103,910,554 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAGCAAGGTGACTACCAACC -3'
(R):5'- ATGCAGTTGTGTGGTAAGGAAGG -3'

Sequencing Primer
(F):5'- TGTGATACCTATACCCAGTG -3'
(R):5'- AGGGTGCTTTCTTCTAGTGC -3'

Posted On

2014-10-30