Incidental Mutation 'R8323:Nsf'
| ID |
643933 |
| 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 |
067724-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103819665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 35
(V35L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103075]
[ENSMUST00000133774]
[ENSMUST00000149642]
|
| AlphaFold |
P46460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103075
AA Change: V35L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: V35L
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000149642
AA Change: V32L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: V32L
| Domain | Start | End | E-Value | Type |
|---|
|
CDC48_N
|
2 |
76 |
6.51e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,351 (GRCm39) |
F6S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,620,058 (GRCm39) |
T507A |
possibly damaging |
Het |
| Catsperb |
A |
C |
12: 101,375,658 (GRCm39) |
H24P |
probably benign |
Het |
| Ccdc57 |
G |
T |
11: 120,788,750 (GRCm39) |
Q366K |
possibly damaging |
Het |
| Cep295 |
G |
T |
9: 15,249,529 (GRCm39) |
T462K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,264,357 (GRCm39) |
R96S |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,719,647 (GRCm39) |
E256K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,435,588 (GRCm39) |
N1016S |
probably benign |
Het |
| Cldn13 |
A |
G |
5: 134,943,828 (GRCm39) |
V119A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 17,266,751 (GRCm39) |
C58* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Dcbld2 |
T |
A |
16: 58,283,473 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,532,109 (GRCm39) |
I2299V |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,356,806 (GRCm39) |
H229Y |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,702,223 (GRCm39) |
C51* |
probably null |
Het |
| Fbxw10 |
G |
A |
11: 62,767,506 (GRCm39) |
V781I |
probably benign |
Het |
| Fdps |
G |
T |
3: 89,002,696 (GRCm39) |
P151T |
possibly damaging |
Het |
| Galk2 |
C |
T |
2: 125,708,298 (GRCm39) |
H16Y |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,813,719 (GRCm39) |
|
probably null |
Het |
| Gm3727 |
C |
T |
14: 7,261,693 (GRCm38) |
V204I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,720,534 (GRCm39) |
I13V |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,431 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,289 (GRCm39) |
V216M |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,780 (GRCm39) |
P224S |
probably damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,372,692 (GRCm39) |
F27I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,572,036 (GRCm39) |
S264P |
probably benign |
Het |
| Lrrc28 |
G |
T |
7: 67,245,455 (GRCm39) |
T137K |
unknown |
Het |
| Lyg1 |
T |
A |
1: 37,989,018 (GRCm39) |
R67S |
probably damaging |
Het |
| Ms4a10 |
G |
A |
19: 10,940,363 (GRCm39) |
Q255* |
probably null |
Het |
| Myo1h |
A |
G |
5: 114,480,200 (GRCm39) |
R512G |
|
Het |
| Nmnat3 |
T |
C |
9: 98,292,276 (GRCm39) |
Y174H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,766 (GRCm39) |
M1L |
probably damaging |
Het |
| Or2w6 |
T |
A |
13: 21,843,302 (GRCm39) |
M64L |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,965,119 (GRCm39) |
S116P |
probably benign |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,715 (GRCm39) |
E649A |
probably benign |
Het |
| Pcdhb8 |
T |
A |
18: 37,488,476 (GRCm39) |
D51E |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,736,895 (GRCm39) |
D745E |
possibly damaging |
Het |
| Prss3 |
A |
G |
6: 41,351,258 (GRCm39) |
L165P |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,793,532 (GRCm39) |
I1211N |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,503,023 (GRCm39) |
V416A |
probably benign |
Het |
| Rnf111 |
T |
A |
9: 70,383,204 (GRCm39) |
Q243L |
probably benign |
Het |
| Sacm1l |
T |
C |
9: 123,377,987 (GRCm39) |
V89A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,125,576 (GRCm39) |
D313N |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,129,681 (GRCm39) |
I371V |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,462 (GRCm39) |
L1801F |
possibly damaging |
Het |
| Sele |
G |
A |
1: 163,879,207 (GRCm39) |
V281M |
possibly damaging |
Het |
| Slc17a1 |
C |
A |
13: 24,071,982 (GRCm39) |
T400K |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,788 (GRCm39) |
D118V |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,671 (GRCm39) |
F110L |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,197 (GRCm39) |
S294P |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,254,711 (GRCm39) |
E1271G |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,070,065 (GRCm39) |
Q738K |
possibly damaging |
Het |
| Spdya |
A |
G |
17: 71,895,587 (GRCm39) |
D284G |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,094,832 (GRCm39) |
D757G |
possibly damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,199 (GRCm39) |
F245S |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,603,153 (GRCm39) |
S39T |
probably benign |
Het |
| Trim24 |
G |
T |
6: 37,892,233 (GRCm39) |
|
probably null |
Het |
| Uap1 |
A |
G |
1: 169,978,635 (GRCm39) |
V302A |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,803,023 (GRCm39) |
Y311F |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,512,252 (GRCm39) |
D46E |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,073 (GRCm39) |
V151I |
possibly damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,621 (GRCm39) |
C494S |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,763 (GRCm39) |
Q283R |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,235 (GRCm39) |
D337E |
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 |
|
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 |
|
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'- CAATACAGTTAGAGAGCAACGTTTG -3'
(R):5'- GCTGCATTCTGCTCATGTTG -3'
Sequencing Primer
(F):5'- GCTTAAAATGAATTGACGCCTGC -3'
(R):5'- GCCTAGATGTCTTTATGTCTGGAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation