Incidental Mutation 'R2343:Nsf'
| ID |
245906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsf
|
| Ensembl Gene |
ENSMUSG00000034187 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein |
| Synonyms |
SKD2, N-ethylmaleimide sensitive factor |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103821782-103954056 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103930752 bp (GRCm38)
|
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 75,145,422 |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 181,001,331 |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,890,678 |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,602,298 |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,895,154 |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,957,105 |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,696 |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,908,021 |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,292,195 |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,428,109 |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,459,797 |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,598,817 |
F2302L |
possibly damaging |
Het |
| Olfr1282 |
A |
G |
2: 111,335,700 |
I126T |
probably damaging |
Het |
| Olfr1342 |
C |
A |
4: 118,690,187 |
M88I |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,167,083 |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,464,731 |
V448D |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,344,342 |
K160R |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,483,360 |
V513E |
probably damaging |
Het |
| Susd3 |
T |
A |
13: 49,238,859 |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,938,829 |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 178,032,994 |
K129E |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TCAAAGCAAGGTGACTACCAACC -3'
(R):5'- ATGCAGTTGTGTGGTAAGGAAGG -3'
Sequencing Primer
(F):5'- TGTGATACCTATACCCAGTG -3'
(R):5'- AGGGTGCTTTCTTCTAGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation