Incidental Mutation 'R1146:Nsf'
ID |
102455 |
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 |
039219-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1146 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 103719364 bp (GRCm39)
|
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: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Usp50 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
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 |
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 |
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 |
|
Posted On |
2014-01-15 |