Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Nsf'

715798

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9476 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

103821782-103954056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103873162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 365 (N365S)

Ref Sequence

ENSEMBL: ENSMUSP00000099364 (fasta)

Gene Model

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

AlphaFold

P46460

Predicted Effect

probably damaging
Transcript: ENSMUST00000103075
AA Change: N365S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: N365S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm38)	W6G	unknown	Het
Aatk	A	T	11: 120,010,268 (GRCm38)	C1101S	probably benign	Het
Abcb4	A	T	5: 8,927,790 (GRCm38)	D456V	probably damaging	Het
Abcc8	T	C	7: 46,169,846 (GRCm38)	E186G	possibly damaging	Het
Adam18	T	C	8: 24,625,791 (GRCm38)	N629S	probably benign	Het
Angpt2	T	G	8: 18,714,127 (GRCm38)	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,991,759 (GRCm38)	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,270,261 (GRCm38)	S151T	unknown	Het
Ap3d1	G	A	10: 80,709,821 (GRCm38)	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,863,222 (GRCm38)	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,650,046 (GRCm38)	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,392,550 (GRCm38)	T425S	probably damaging	Het
Cdk13	A	C	13: 17,728,162 (GRCm38)	C934W	probably damaging	Het
Ces1b	T	A	8: 93,073,262 (GRCm38)	N162I	probably damaging	Het
Clec9a	T	A	6: 129,421,060 (GRCm38)	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,300,079 (GRCm38)	I266M	probably damaging	Het
Cr2	G	T	1: 195,158,108 (GRCm38)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,334,511 (GRCm38)	G448W	probably damaging	Het
Csmd1	T	A	8: 15,931,215 (GRCm38)		probably null	Het
Cul9	G	A	17: 46,510,907 (GRCm38)	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,185,380 (GRCm38)		probably null	Het
Dnhd1	A	T	7: 105,703,682 (GRCm38)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,323,727 (GRCm38)	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,907,707 (GRCm38)	H896R	probably damaging	Het
Dock1	T	G	7: 134,990,550 (GRCm38)	I938S	probably benign	Het
Dock6	G	A	9: 21,813,525 (GRCm38)	L1515F	probably damaging	Het
Dusp16	T	C	6: 134,718,263 (GRCm38)	H535R	probably benign	Het
Fancd2os	T	A	6: 113,598,033 (GRCm38)	Y4F	probably damaging	Het
Fat4	A	T	3: 38,983,737 (GRCm38)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,852,988 (GRCm38)	H240P	probably benign	Het
Frmd4a	A	G	2: 4,603,513 (GRCm38)	T731A	probably benign	Het
Gm44501	T	A	17: 40,578,929 (GRCm38)	H111Q	possibly damaging	Het
Gsdmc	T	C	15: 63,778,702 (GRCm38)	M277V	probably benign	Het
Hira	A	G	16: 18,954,039 (GRCm38)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,586,376 (GRCm38)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,788,787 (GRCm38)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,990,812 (GRCm38)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,171,005 (GRCm38)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,244,509 (GRCm38)	M360L	probably benign	Het
Itih3	A	G	14: 30,909,459 (GRCm38)	S827P	probably benign	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcnk12	C	A	17: 87,746,694 (GRCm38)	R180L	probably benign	Het
Kndc1	G	A	7: 139,930,118 (GRCm38)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,608,126 (GRCm38)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,398,450 (GRCm38)	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,287,704 (GRCm38)	V137G	probably damaging	Het
Nrbp2	T	C	15: 76,089,777 (GRCm38)	N218S	probably damaging	Het
Nrip1	T	C	16: 76,292,932 (GRCm38)	N579S	probably benign	Het
Or6c5	A	G	10: 129,238,787 (GRCm38)	I213V	probably damaging	Het
Or7g28	A	T	9: 19,361,087 (GRCm38)	D89E	probably benign	Het
Osbpl3	C	T	6: 50,336,214 (GRCm38)		probably null	Het
Oscar	T	A	7: 3,611,844 (GRCm38)	H43L	probably benign	Het
Pam	C	T	1: 97,898,340 (GRCm38)		probably null	Het
Parn	A	T	16: 13,541,078 (GRCm38)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,006,479 (GRCm38)	T387N	probably benign	Het
Plce1	G	A	19: 38,777,893 (GRCm38)	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,119,342 (GRCm38)	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,533,634 (GRCm38)	P613L	probably benign	Het
Ptprt	A	C	2: 161,555,461 (GRCm38)	C1129G	probably damaging	Het
Rara	C	T	11: 98,970,157 (GRCm38)	S157L	probably benign	Het
Rest	T	A	5: 77,268,251 (GRCm38)	M104K	probably damaging	Het
Rfc1	A	G	5: 65,279,799 (GRCm38)	S513P	probably damaging	Het
Rnf40	T	A	7: 127,602,636 (GRCm38)	I1000N	probably damaging	Het
Scube2	C	T	7: 109,831,762 (GRCm38)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,385,852 (GRCm38)	E264G	probably benign	Het
Shank1	G	A	7: 44,312,918 (GRCm38)	S71N	unknown	Het
Smc4	T	G	3: 69,007,329 (GRCm38)	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,715,653 (GRCm38)	D205G	probably benign	Het
Spata31e4	A	G	13: 50,702,113 (GRCm38)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,117 (GRCm38)	R390G	probably damaging	Het
Speg	T	C	1: 75,401,124 (GRCm38)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,757,739 (GRCm38)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,213,504 (GRCm38)	V191D	probably benign	Het
Supt6	C	T	11: 78,229,464 (GRCm38)	R350H	probably damaging	Het
Tet3	T	A	6: 83,404,826 (GRCm38)		probably null	Het
Tet3	T	C	6: 83,403,953 (GRCm38)	E411G	possibly damaging	Het
Tns3	A	G	11: 8,445,702 (GRCm38)	I1234T	probably damaging	Het
Trim34b	A	G	7: 104,331,296 (GRCm38)	E197G	probably damaging	Het
Vcan	G	T	13: 89,703,412 (GRCm38)	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 42,300,169 (GRCm38)	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,322,218 (GRCm38)	V29A	probably damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm38)	M2450I	probably benign	Het
Zfp869	A	T	8: 69,707,199 (GRCm38)	C241*	probably null	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
R2347: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
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'- TTCCGATGTCTGTAAGAAGCAG -3'
(R):5'- TTGATGCATTCAGATTGTGACC -3'

Sequencing Primer
(F):5'- TCCGATGTCTGTAAGAAGCAGTAATG -3'
(R):5'- GCATTCAGATTGTGACCTTTAGCAG -3'

Posted On

2022-06-15