Incidental Mutation 'IGL01994:Nsf'
| ID |
183618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103819608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 54
(S54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103075]
[ENSMUST00000133774]
[ENSMUST00000149642]
|
| AlphaFold |
P46460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103075
AA Change: S54P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: S54P
| 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
AA Change: S19P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133591
Gene: ENSMUSG00000034187
AA Change: S19P
| 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: S51P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: S51P
| Domain | Start | End | E-Value | Type |
|---|
|
CDC48_N
|
2 |
76 |
6.51e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
A |
T |
13: 12,305,563 (GRCm39) |
Y418N |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,248,812 (GRCm39) |
|
probably benign |
Het |
| Adam32 |
C |
A |
8: 25,392,812 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,345,680 (GRCm39) |
C1574S |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,397,926 (GRCm39) |
S187P |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,156,336 (GRCm39) |
V949A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,908,439 (GRCm39) |
T138A |
probably benign |
Het |
| Atxn7l2 |
C |
T |
3: 108,110,859 (GRCm39) |
R559Q |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,706,741 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Cacybp |
G |
T |
1: 160,034,206 (GRCm39) |
N101K |
probably damaging |
Het |
| Cops7b |
T |
C |
1: 86,528,828 (GRCm39) |
L185P |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,814 (GRCm39) |
D899G |
possibly damaging |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,150 (GRCm39) |
R85* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,550,437 (GRCm39) |
N3294T |
possibly damaging |
Het |
| Elmo1 |
T |
A |
13: 20,526,634 (GRCm39) |
Y395N |
probably damaging |
Het |
| Fam234b |
T |
A |
6: 135,202,203 (GRCm39) |
Y308* |
probably null |
Het |
| Fam43a |
A |
G |
16: 30,419,481 (GRCm39) |
K22E |
probably damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,302 (GRCm39) |
N123D |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,027 (GRCm39) |
C218R |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,537,726 (GRCm39) |
Y194C |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,507,396 (GRCm39) |
E435G |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,844,725 (GRCm39) |
E506G |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,989,948 (GRCm39) |
S1160N |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,267,417 (GRCm39) |
E605G |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,445,411 (GRCm39) |
V374A |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,612,093 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,700,899 (GRCm39) |
V530M |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,931,429 (GRCm39) |
H47R |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,057 (GRCm39) |
I162F |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,059,434 (GRCm39) |
T606S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,343,199 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,313,945 (GRCm39) |
I2262T |
probably benign |
Het |
| Mamdc4 |
A |
T |
2: 25,458,546 (GRCm39) |
I317N |
possibly damaging |
Het |
| Mtmr3 |
G |
T |
11: 4,437,938 (GRCm39) |
H839N |
probably benign |
Het |
| Ncr1 |
G |
T |
7: 4,344,253 (GRCm39) |
V177F |
probably benign |
Het |
| Nop58 |
T |
C |
1: 59,743,242 (GRCm39) |
S219P |
probably damaging |
Het |
| Nrg3 |
T |
C |
14: 38,734,043 (GRCm39) |
Y281C |
probably damaging |
Het |
| Or56b6 |
A |
T |
7: 104,925,153 (GRCm39) |
|
noncoding transcript |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,102 (GRCm39) |
S7T |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,685,801 (GRCm39) |
K730R |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,771,740 (GRCm39) |
|
probably benign |
Het |
| Rps13 |
A |
G |
7: 115,932,925 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,403,409 (GRCm39) |
I99T |
probably benign |
Het |
| Slc22a27 |
G |
T |
19: 7,887,108 (GRCm39) |
H260Q |
possibly damaging |
Het |
| Spata18 |
G |
T |
5: 73,814,944 (GRCm39) |
|
probably null |
Het |
| Tns2 |
A |
G |
15: 102,019,814 (GRCm39) |
E560G |
possibly damaging |
Het |
| Trbv16 |
T |
C |
6: 41,128,715 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,851,520 (GRCm39) |
I1829N |
probably damaging |
Het |
| Vcl |
C |
T |
14: 21,053,311 (GRCm39) |
T442I |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,880,731 (GRCm39) |
I24N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,451 (GRCm39) |
D217G |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,394 (GRCm39) |
Y834H |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,045,636 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation