Incidental Mutation 'IGL01786:Usp20'
| ID |
278907 |
| 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 # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30982279-31023586 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31017163 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 594
(E594G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102849]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102849
AA Change: E594G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: E594G
| 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 |
noncoding transcript
Transcript: ENSMUST00000127776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170476
AA Change: E594G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: E594G
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 24,996,839 (GRCm38) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,682,715 (GRCm38) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,497,736 (GRCm38) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,339,876 (GRCm38) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,229,136 (GRCm38) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,739,553 (GRCm38) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 105,390,304 (GRCm38) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,119,068 (GRCm38) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,827,948 (GRCm38) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,902,912 (GRCm38) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 85,359,317 (GRCm38) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,106,330 (GRCm38) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,510,483 (GRCm38) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,122,776 (GRCm38) |
Y265* |
probably null |
Het |
| Olfr1445 |
C |
T |
19: 12,884,277 (GRCm38) |
T132I |
probably damaging |
Het |
| Olfr530 |
T |
A |
7: 140,373,125 (GRCm38) |
M162L |
probably benign |
Het |
| Otud3 |
T |
C |
4: 138,896,897 (GRCm38) |
D278G |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,874,488 (GRCm38) |
V298A |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,319,520 (GRCm38) |
D847G |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,191,442 (GRCm38) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,959,935 (GRCm38) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,484,120 (GRCm38) |
Q106* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,206,814 (GRCm38) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,346,238 (GRCm38) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,352,486 (GRCm38) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,188,209 (GRCm38) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,898,447 (GRCm38) |
E153G |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,963,703 (GRCm38) |
|
probably null |
Het |
| Tusc5 |
G |
A |
11: 76,680,466 (GRCm38) |
V103I |
probably benign |
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 |
|
IGL01601:Usp20
|
APN |
2 |
31,011,794 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01785: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 |
2015-04-16 |
Incidental Mutation