Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Nsf'

102455

Institutional Source

Beutler Lab

Gene Symbol

Nsf

Ensembl Gene

ENSMUSG00000034187

Gene Name

N-ethylmaleimide sensitive fusion protein

Synonyms

SKD2, N-ethylmaleimide sensitive factor

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103821782-103954056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103828538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 646 (T646I)

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

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

AlphaFold

P46460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040443

Predicted Effect

probably damaging
Transcript: ENSMUST00000103075
AA Change: T646I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: T646I

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: ENSMUST00000146036

Meta Mutation Damage Score

0.9183

Coding Region Coverage

1x: 99.4%
3x: 97.6%
10x: 85.8%
20x: 55.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm21738	T	C	14: 19,415,963	K192R	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Usp50	T	C	2: 126,709,472	Y29C	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Nsf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Nsf	APN	11	103861885	splice site	probably benign
IGL01377:Nsf	APN	11	103872647	missense	probably damaging	0.97
IGL01994:Nsf	APN	11	103928782	missense	probably damaging	0.98
IGL02141:Nsf	APN	11	103828525	missense	probably benign	0.02
IGL02663:Nsf	APN	11	103930815	missense	probably benign	0.04
IGL02871:Nsf	APN	11	103862056	splice site	probably benign
uhaul	UTSW	11	103930752	missense	possibly damaging	0.59
R0180:Nsf	UTSW	11	103930780	missense	probably damaging	1.00
R0880:Nsf	UTSW	11	103913372	missense	possibly damaging	0.72
R1146:Nsf	UTSW	11	103828538	missense	probably damaging	1.00
R1203:Nsf	UTSW	11	103926126	unclassified	probably benign
R1873:Nsf	UTSW	11	103859017	missense	probably damaging	1.00
R1951:Nsf	UTSW	11	103882876	nonsense	probably null
R2163:Nsf	UTSW	11	103863333	missense	possibly damaging	0.64
R2193:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2194:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2287:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2289:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2343:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2345:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2346:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2347:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2350:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2405:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2406:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2407:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2408:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2409:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2411:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2435:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2924:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2925:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R2987:Nsf	UTSW	11	103859043	splice site	probably null
R3177:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3277:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3741:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3742:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R3845:Nsf	UTSW	11	103930752	missense	possibly damaging	0.59
R4278:Nsf	UTSW	11	103930806	missense	probably damaging	0.96
R4717:Nsf	UTSW	11	103823769	missense	probably damaging	1.00
R4775:Nsf	UTSW	11	103872593	missense	possibly damaging	0.93
R4915:Nsf	UTSW	11	103910359	unclassified	probably benign
R4918:Nsf	UTSW	11	103910359	unclassified	probably benign
R5090:Nsf	UTSW	11	103910578	missense	probably benign	0.00
R5126:Nsf	UTSW	11	103882792	nonsense	probably null
R5411:Nsf	UTSW	11	103882811	missense	probably damaging	1.00
R5560:Nsf	UTSW	11	103863255	missense	possibly damaging	0.47
R6344:Nsf	UTSW	11	103861904	missense	probably damaging	1.00
R6596:Nsf	UTSW	11	103910457	missense	probably damaging	0.98
R7155:Nsf	UTSW	11	103828530	nonsense	probably null
R7272:Nsf	UTSW	11	103827238	missense	probably damaging	1.00
R7769:Nsf	UTSW	11	103928839	missense	probably damaging	1.00
R8323:Nsf	UTSW	11	103928839	missense	probably benign	0.05
R8487:Nsf	UTSW	11	103928758	missense	probably damaging	1.00
R8856:Nsf	UTSW	11	103930742	missense	possibly damaging	0.69
R9253:Nsf	UTSW	11	103913316	missense	probably null	1.00
R9476:Nsf	UTSW	11	103873162	missense	probably damaging	1.00
R9509:Nsf	UTSW	11	103863248	missense	probably benign	0.19
R9510:Nsf	UTSW	11	103873162	missense	probably damaging	1.00
R9520:Nsf	UTSW	11	103913883	missense	probably damaging	1.00
R9546:Nsf	UTSW	11	103910449	nonsense	probably null
R9632:Nsf	UTSW	11	103823768	missense	probably damaging	1.00
R9779:Nsf	UTSW	11	103828526	missense	probably damaging	0.99
X0066:Nsf	UTSW	11	103823740	missense	probably benign
Z1176:Nsf	UTSW	11	103910554	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15