Incidental Mutation 'IGL01444:Usp20'
ID |
84363 |
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 # |
IGL01444
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 30888801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060167
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000125601]
[ENSMUST00000128295]
[ENSMUST00000138161]
[ENSMUST00000170476]
[ENSMUST00000142232]
|
AlphaFold |
Q8C6M1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061544
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060167 Gene: ENSMUSG00000026854 AA Change: M1K
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 null
Transcript: ENSMUST00000102849
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099913 Gene: ENSMUSG00000026854 AA Change: M1K
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 null
Transcript: ENSMUST00000125601
AA Change: M1K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121699 Gene: ENSMUSG00000026854 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
66 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128295
AA Change: M1K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115613 Gene: ENSMUSG00000026854 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
77 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136588
|
SMART Domains |
Protein: ENSMUSP00000119197 Gene: ENSMUSG00000026854
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 null
Transcript: ENSMUST00000138161
AA Change: M1K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116696 Gene: ENSMUSG00000026854 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
30 |
77 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170476
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127388 Gene: ENSMUSG00000026854 AA Change: M1K
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 |
unknown
Transcript: ENSMUST00000142232
AA Change: M67K
|
SMART Domains |
Protein: ENSMUSP00000115347 Gene: ENSMUSG00000026854 AA Change: M67K
Domain | Start | End | E-Value | Type |
PDB:2UZG|A
|
70 |
99 |
5e-8 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154351
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
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 |
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 |
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 |
2013-11-11 |