Incidental Mutation 'IGL02147:Usp20'
| ID |
281818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp20
|
| Ensembl Gene |
ENSMUSG00000026854 |
| Gene Name |
ubiquitin specific peptidase 20 |
| Synonyms |
Vdu2, 1700055M05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30896413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 172
(F172S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000125601]
[ENSMUST00000128295]
[ENSMUST00000138161]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061544
AA Change: F172S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
AA Change: F172S
| 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: F172S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: F172S
| 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: F136S
|
| SMART Domains |
Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854
AA Change: F136S
| 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 |
noncoding transcript
Transcript: ENSMUST00000154351
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170476
AA Change: F172S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: F172S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154634
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
C |
19: 24,042,327 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
T |
A |
7: 131,027,610 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,064 (GRCm39) |
H75R |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,097,822 (GRCm39) |
I931F |
probably damaging |
Het |
| Cdk5 |
T |
C |
5: 24,625,318 (GRCm39) |
N165D |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,458,140 (GRCm39) |
Y272F |
probably benign |
Het |
| Csde1 |
T |
A |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,937,928 (GRCm39) |
H724R |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,752 (GRCm39) |
D777G |
possibly damaging |
Het |
| Fat3 |
A |
C |
9: 15,907,281 (GRCm39) |
V2907G |
probably damaging |
Het |
| Fst |
T |
C |
13: 114,590,896 (GRCm39) |
Y290C |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,011 (GRCm39) |
*336R |
probably null |
Het |
| Igkv4-92 |
C |
T |
6: 68,732,236 (GRCm39) |
S46N |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lgalsl2 |
T |
A |
7: 5,362,732 (GRCm39) |
I121N |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,093,754 (GRCm39) |
M244V |
possibly damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,558,379 (GRCm39) |
F211S |
probably benign |
Het |
| Mib2 |
C |
A |
4: 155,742,144 (GRCm39) |
R209L |
probably benign |
Het |
| Msx3 |
C |
A |
7: 139,628,798 (GRCm39) |
V39L |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,672 (GRCm39) |
F129S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,696 (GRCm39) |
S266G |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,534,285 (GRCm39) |
L703F |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,877 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,494 (GRCm39) |
N140S |
probably benign |
Het |
| Pcyt1a |
T |
A |
16: 32,280,916 (GRCm39) |
N105K |
probably damaging |
Het |
| Pdhx |
A |
G |
2: 102,860,686 (GRCm39) |
|
probably benign |
Het |
| Qpct |
T |
C |
17: 79,378,145 (GRCm39) |
V105A |
probably damaging |
Het |
| Ros1 |
A |
C |
10: 51,996,991 (GRCm39) |
F1227C |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,874,620 (GRCm39) |
V342E |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,901,004 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,281 (GRCm39) |
K366M |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,999 (GRCm39) |
N175D |
probably damaging |
Het |
| Sox14 |
T |
C |
9: 99,757,598 (GRCm39) |
K47R |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,153,132 (GRCm39) |
I592F |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,596,900 (GRCm39) |
M3880T |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,782 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Usp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Usp20
|
APN |
2 |
30,894,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01444:Usp20
|
APN |
2 |
30,888,801 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01601:Usp20
|
APN |
2 |
30,901,806 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01785:Usp20
|
APN |
2 |
30,907,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01786:Usp20
|
APN |
2 |
30,907,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02129:Usp20
|
APN |
2 |
30,894,462 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03396:Usp20
|
APN |
2 |
30,901,729 (GRCm39) |
missense |
probably benign |
|
|
BB007:Usp20
|
UTSW |
2 |
30,900,556 (GRCm39) |
missense |
probably benign |
0.21 |
|
BB017:Usp20
|
UTSW |
2 |
30,900,556 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4453001:Usp20
|
UTSW |
2 |
30,907,498 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0111:Usp20
|
UTSW |
2 |
30,892,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Usp20
|
UTSW |
2 |
30,901,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0479:Usp20
|
UTSW |
2 |
30,907,487 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0538:Usp20
|
UTSW |
2 |
30,894,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1023:Usp20
|
UTSW |
2 |
30,897,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Usp20
|
UTSW |
2 |
30,901,797 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1635:Usp20
|
UTSW |
2 |
30,908,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2114:Usp20
|
UTSW |
2 |
30,906,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Usp20
|
UTSW |
2 |
30,906,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Usp20
|
UTSW |
2 |
30,906,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Usp20
|
UTSW |
2 |
30,906,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Usp20
|
UTSW |
2 |
30,908,750 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2244:Usp20
|
UTSW |
2 |
30,900,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2883:Usp20
|
UTSW |
2 |
30,908,812 (GRCm39) |
missense |
probably benign |
|
|
R4734:Usp20
|
UTSW |
2 |
30,909,836 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5507:Usp20
|
UTSW |
2 |
30,900,238 (GRCm39) |
missense |
probably benign |
|
|
R5770:Usp20
|
UTSW |
2 |
30,907,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Usp20
|
UTSW |
2 |
30,896,461 (GRCm39) |
nonsense |
probably null |
|
|
R6315:Usp20
|
UTSW |
2 |
30,907,770 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7603:Usp20
|
UTSW |
2 |
30,901,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Usp20
|
UTSW |
2 |
30,910,906 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7930:Usp20
|
UTSW |
2 |
30,900,556 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8542:Usp20
|
UTSW |
2 |
30,901,636 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8965:Usp20
|
UTSW |
2 |
30,901,797 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9079:Usp20
|
UTSW |
2 |
30,895,120 (GRCm39) |
intron |
probably benign |
|
|
R9226:Usp20
|
UTSW |
2 |
30,907,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9417:Usp20
|
UTSW |
2 |
30,873,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9459:Usp20
|
UTSW |
2 |
30,901,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Usp20
|
UTSW |
2 |
30,909,830 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation