Incidental Mutation 'R2406:Nsf'
| ID |
248018 |
| 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 |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- CAAGGTTTGACAGTGTAATGACAG -3'
(R):5'- CTACCCTGGAGGAAGAAACACG -3'
Sequencing Primer
(F):5'- GTTTGACAGTGTAATGACAGAAATGC -3'
(R):5'- TCAGGATGGAGGGACATTTACTAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation