Incidental Mutation 'IGL02129:Usp20'
ID |
280962 |
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 # |
IGL02129
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30894462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000125601]
[ENSMUST00000128295]
[ENSMUST00000138161]
[ENSMUST00000170476]
[ENSMUST00000142232]
|
AlphaFold |
Q8C6M1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061544
AA Change: V126A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000060167 Gene: ENSMUSG00000026854 AA Change: V126A
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: V126A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099913 Gene: ENSMUSG00000026854 AA Change: V126A
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 |
probably benign
Transcript: ENSMUST00000136588
AA Change: V90A
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119197 Gene: ENSMUSG00000026854 AA Change: V90A
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: ENSMUST00000170476
AA Change: V126A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127388 Gene: ENSMUSG00000026854 AA Change: V126A
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: ENSMUST00000154351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154634
|
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 |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
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 |
IGL02147:Usp20
|
APN |
2 |
30,896,413 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |