Incidental Mutation 'R3277:Nsf'
ID |
258279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsf
|
Ensembl Gene |
ENSMUSG00000034187 |
Gene Name |
N-ethylmaleimide sensitive fusion protein |
Synonyms |
N-ethylmaleimide sensitive factor, SKD2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3277 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,020 (GRCm39) |
R553G |
possibly damaging |
Het |
Adarb2 |
A |
G |
13: 8,802,663 (GRCm39) |
N646S |
probably damaging |
Het |
Adcy8 |
C |
T |
15: 64,571,008 (GRCm39) |
G1242S |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,684,037 (GRCm39) |
T543S |
probably damaging |
Het |
Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,503 (GRCm39) |
D330G |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
Cdx2 |
A |
T |
5: 147,240,002 (GRCm39) |
S225T |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,617,120 (GRCm39) |
I843M |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,414,925 (GRCm39) |
|
probably null |
Het |
Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
Dgkb |
G |
A |
12: 38,134,216 (GRCm39) |
V41M |
probably damaging |
Het |
Duox1 |
T |
C |
2: 122,170,597 (GRCm39) |
Y1206H |
probably damaging |
Het |
Dync1i1 |
T |
C |
6: 5,972,211 (GRCm39) |
|
probably null |
Het |
Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,122,195 (GRCm39) |
Q1455L |
unknown |
Het |
Frrs1 |
T |
C |
3: 116,692,873 (GRCm39) |
F49S |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
Gm7104 |
A |
T |
12: 88,252,498 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hacd4 |
T |
C |
4: 88,355,747 (GRCm39) |
H46R |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,803,176 (GRCm39) |
V2175A |
probably benign |
Het |
Hey1 |
T |
C |
3: 8,729,951 (GRCm39) |
S169G |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hlf |
T |
C |
11: 90,236,661 (GRCm39) |
K199E |
probably damaging |
Het |
Hpgd |
C |
A |
8: 56,751,448 (GRCm39) |
A92E |
probably damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Kif2a |
A |
G |
13: 107,113,264 (GRCm39) |
I455T |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lamc3 |
G |
T |
2: 31,798,637 (GRCm39) |
G448C |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,583,475 (GRCm39) |
G425D |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,666,273 (GRCm39) |
|
probably null |
Het |
Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
Mdh1b |
G |
A |
1: 63,750,690 (GRCm39) |
T426M |
possibly damaging |
Het |
Nr1h4 |
G |
A |
10: 89,314,650 (GRCm39) |
T282I |
possibly damaging |
Het |
Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
Or52k2 |
T |
C |
7: 102,253,783 (GRCm39) |
V74A |
possibly damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Parp9 |
T |
C |
16: 35,768,578 (GRCm39) |
S20P |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,101,703 (GRCm39) |
F963L |
probably damaging |
Het |
Pwp1 |
C |
T |
10: 85,717,943 (GRCm39) |
L294F |
probably benign |
Het |
Radil |
A |
G |
5: 142,492,611 (GRCm39) |
L339P |
probably damaging |
Het |
Raver1 |
G |
A |
9: 20,990,573 (GRCm39) |
P316S |
possibly damaging |
Het |
Rell1 |
A |
G |
5: 64,084,330 (GRCm39) |
|
probably null |
Het |
Rxrg |
A |
G |
1: 167,463,269 (GRCm39) |
D257G |
possibly damaging |
Het |
Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,082,339 (GRCm39) |
C1642G |
probably benign |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Wrn |
A |
G |
8: 33,807,582 (GRCm39) |
M292T |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,508,959 (GRCm39) |
Y462H |
probably damaging |
Het |
Zscan5b |
T |
A |
7: 6,234,345 (GRCm39) |
Y124N |
possibly damaging |
Het |
Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
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 |
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'- TCAAAGCAAGGTGACTACCAACC -3'
(R):5'- ATGCAGTTGTGTGGTAAGGAAGG -3'
Sequencing Primer
(F):5'- TGTGATACCTATACCCAGTG -3'
(R):5'- AGGGTGCTTTCTTCTAGTGC -3'
|
Posted On |
2015-01-23 |