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 |
Vdu2, 1700055M05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00973
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30894962 bp (GRCm39)
|
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154351
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
Other mutations in Usp20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |