Incidental Mutation 'IGL01601:Usp20'
| ID |
91785 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp20
|
| Ensembl Gene |
ENSMUSG00000026854 |
| Gene Name |
ubiquitin specific peptidase 20 |
| Synonyms |
1700055M05Rik, Vdu2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30982279-31023586 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31011794 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 524
(R524W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061544
|
| SMART Domains |
Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
95 |
3.2e-18 |
PFAM |
|
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
144 |
210 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102849
AA Change: R524W
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: R524W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
95 |
4.3e-17 |
PFAM |
|
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
144 |
684 |
5e-63 |
PFAM |
|
Pfam:UCH_1
|
145 |
669 |
8.8e-24 |
PFAM |
|
DUSP
|
704 |
787 |
5.97e-28 |
SMART |
|
DUSP
|
812 |
897 |
4.74e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170476
AA Change: R524W
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: R524W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
95 |
3.4e-17 |
PFAM |
|
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
144 |
270 |
1.2e-26 |
PFAM |
|
Pfam:UCH_1
|
145 |
669 |
6.1e-20 |
PFAM |
|
Pfam:UCH
|
324 |
684 |
1.6e-31 |
PFAM |
|
DUSP
|
704 |
787 |
5.97e-28 |
SMART |
|
DUSP
|
812 |
897 |
4.74e-31 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930430A15Rik |
A |
T |
2: 111,193,478 |
C104S |
unknown |
Het |
| Adgrf2 |
T |
C |
17: 42,710,049 |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,591,841 |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 70,004,725 |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,641,342 |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,347,683 |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 80,095,517 |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,793,491 |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,846,970 |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,899,981 |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,239,528 |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,779,595 |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,997,689 |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,710,045 |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,627,413 |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,456,338 |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 35,989,952 |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 33,998,465 |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,813,955 |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 46,723,724 |
N785T |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,438 |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,358,058 |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,509,183 |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,405,718 |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,486,379 |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,702,317 |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,623,824 |
|
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,076,562 |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,581,644 |
N84S |
possibly damaging |
Het |
|
| Other mutations in Usp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Usp20
|
APN |
2 |
31,004,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01444:Usp20
|
APN |
2 |
30,998,789 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
IGL01785:Usp20
|
APN |
2 |
31,017,163 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01786:Usp20
|
APN |
2 |
31,017,163 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02129:Usp20
|
APN |
2 |
31,004,450 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02147:Usp20
|
APN |
2 |
31,006,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Usp20
|
APN |
2 |
31,011,717 (GRCm38) |
missense |
probably benign |
|
|
BB007:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
BB017:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
PIT4453001:Usp20
|
UTSW |
2 |
31,017,486 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0111:Usp20
|
UTSW |
2 |
31,002,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0369:Usp20
|
UTSW |
2 |
31,011,104 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0479:Usp20
|
UTSW |
2 |
31,017,475 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0538:Usp20
|
UTSW |
2 |
31,004,450 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1023:Usp20
|
UTSW |
2 |
31,007,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Usp20
|
UTSW |
2 |
31,011,785 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1635:Usp20
|
UTSW |
2 |
31,018,818 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2114:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2116:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Usp20
|
UTSW |
2 |
31,018,738 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2244:Usp20
|
UTSW |
2 |
31,010,331 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2883:Usp20
|
UTSW |
2 |
31,018,800 (GRCm38) |
missense |
probably benign |
|
|
R4734:Usp20
|
UTSW |
2 |
31,019,824 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5507:Usp20
|
UTSW |
2 |
31,010,226 (GRCm38) |
missense |
probably benign |
|
|
R5770:Usp20
|
UTSW |
2 |
31,017,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5862:Usp20
|
UTSW |
2 |
31,006,449 (GRCm38) |
nonsense |
probably null |
|
|
R6315:Usp20
|
UTSW |
2 |
31,017,758 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7603:Usp20
|
UTSW |
2 |
31,011,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7887:Usp20
|
UTSW |
2 |
31,020,894 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7930:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8542:Usp20
|
UTSW |
2 |
31,011,624 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8965:Usp20
|
UTSW |
2 |
31,011,785 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9079:Usp20
|
UTSW |
2 |
31,005,108 (GRCm38) |
intron |
probably benign |
|
|
R9226:Usp20
|
UTSW |
2 |
31,017,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9417:Usp20
|
UTSW |
2 |
30,983,018 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9459:Usp20
|
UTSW |
2 |
31,011,012 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Usp20
|
UTSW |
2 |
31,019,818 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-12-09 |
Incidental Mutation