Incidental Mutation 'IGL00973:Usp20'
| ID |
27010 |
| 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 # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30982279-31023586 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 31004950 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 149
(N149T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000125601]
[ENSMUST00000128295]
[ENSMUST00000138161]
[ENSMUST00000142232]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061544
AA Change: N149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
AA Change: N149T
| 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 damaging
Transcript: ENSMUST00000102849
AA Change: N149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: N149T
| 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: ENSMUST00000125601
|
| SMART Domains |
Protein: ENSMUSP00000121699
Gene: ENSMUSG00000026854
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
66 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128295
|
| SMART Domains |
Protein: ENSMUSP00000115613
Gene: ENSMUSG00000026854
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
77 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136588
AA Change: N113T
|
| SMART Domains |
Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854
AA Change: N113T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
10 |
60 |
6.4e-12 |
PFAM |
|
low complexity region
|
93 |
103 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
109 |
142 |
4.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138161
|
| SMART Domains |
Protein: ENSMUSP00000116696
Gene: ENSMUSG00000026854
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
30 |
77 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142232
|
| SMART Domains |
Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2UZG|A
|
70 |
99 |
5e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154634
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170476
AA Change: N149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: N149T
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,807,470 (GRCm38) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,796 (GRCm38) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,722,116 (GRCm38) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,013,788 (GRCm38) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,176,892 (GRCm38) |
K374Q |
possibly damaging |
Het |
| Dusp27 |
T |
C |
1: 166,099,458 (GRCm38) |
S862G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 34,910,815 (GRCm38) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm38) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,998,939 (GRCm38) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,319,942 (GRCm38) |
T169I |
probably damaging |
Het |
| Hinfp |
T |
G |
9: 44,298,139 (GRCm38) |
D283A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,383,821 (GRCm38) |
|
probably benign |
Het |
| Hs6st3 |
A |
T |
14: 119,869,407 (GRCm38) |
Y409F |
possibly damaging |
Het |
| Ighv15-2 |
A |
T |
12: 114,564,870 (GRCm38) |
V20D |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 138,275,057 (GRCm38) |
T91A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,934,924 (GRCm38) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,338,787 (GRCm38) |
T420M |
probably damaging |
Het |
| Olfr876 |
C |
A |
9: 37,804,782 (GRCm38) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,981,277 (GRCm38) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,911,013 (GRCm38) |
V313D |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,031,364 (GRCm38) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,806,167 (GRCm38) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,741,371 (GRCm38) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,408,511 (GRCm38) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,729,577 (GRCm38) |
|
probably null |
Het |
| Sox7 |
A |
G |
14: 63,948,187 (GRCm38) |
H224R |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,590,907 (GRCm38) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,179,408 (GRCm38) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,541,205 (GRCm38) |
K940M |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,955,705 (GRCm38) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 14,913,878 (GRCm38) |
H475Q |
probably benign |
Het |
|
| Other mutations in Usp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation