Incidental Mutation 'R2883:Usp20'
ID |
260898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp20
|
Ensembl Gene |
ENSMUSG00000026854 |
Gene Name |
ubiquitin specific peptidase 20 |
Synonyms |
Vdu2, 1700055M05Rik |
MMRRC Submission |
040471-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2883 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30908812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 798
(V798M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102849]
[ENSMUST00000170476]
|
AlphaFold |
Q8C6M1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102849
AA Change: V798M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099913 Gene: ENSMUSG00000026854 AA Change: V798M
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 |
noncoding transcript
Transcript: ENSMUST00000127776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170476
AA Change: V798M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127388 Gene: ENSMUSG00000026854 AA Change: V798M
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
G |
A |
8: 122,266,644 (GRCm39) |
P81S |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,244,113 (GRCm39) |
Q790R |
probably benign |
Het |
Asic2 |
T |
A |
11: 80,784,839 (GRCm39) |
I367F |
possibly damaging |
Het |
Asxl2 |
T |
C |
12: 3,551,830 (GRCm39) |
S1191P |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,989,602 (GRCm39) |
S374P |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,773,222 (GRCm39) |
F167I |
probably damaging |
Het |
Cimip3 |
C |
A |
17: 47,747,650 (GRCm39) |
V32F |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,814,135 (GRCm39) |
L94P |
probably benign |
Het |
Cped1 |
A |
T |
6: 22,143,978 (GRCm39) |
T575S |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,302,072 (GRCm39) |
Y702C |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,560 (GRCm39) |
N84I |
probably damaging |
Het |
Dse |
A |
T |
10: 34,028,503 (GRCm39) |
D862E |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,810,985 (GRCm39) |
T1023S |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,034,953 (GRCm39) |
N2868K |
probably damaging |
Het |
Fgd5 |
G |
A |
6: 91,964,090 (GRCm39) |
|
probably null |
Het |
Fsip2 |
C |
T |
2: 82,821,868 (GRCm39) |
T5867I |
possibly damaging |
Het |
Fuca2 |
A |
G |
10: 13,381,695 (GRCm39) |
T203A |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,795,874 (GRCm39) |
I131V |
probably damaging |
Het |
Gtpbp4 |
A |
G |
13: 9,040,759 (GRCm39) |
V122A |
possibly damaging |
Het |
Kif1b |
G |
A |
4: 149,322,105 (GRCm39) |
T938I |
possibly damaging |
Het |
Klhl29 |
T |
C |
12: 5,134,036 (GRCm39) |
D767G |
probably damaging |
Het |
Mageb3 |
A |
G |
2: 121,784,847 (GRCm39) |
V285A |
probably benign |
Het |
Myoc |
A |
G |
1: 162,467,185 (GRCm39) |
E118G |
possibly damaging |
Het |
Nedd1 |
A |
C |
10: 92,530,860 (GRCm39) |
F410V |
probably damaging |
Het |
Nipal1 |
A |
T |
5: 72,825,073 (GRCm39) |
K255N |
probably damaging |
Het |
Npr3 |
T |
C |
15: 11,883,410 (GRCm39) |
K340E |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,473,155 (GRCm39) |
G1023C |
possibly damaging |
Het |
Ogdh |
T |
C |
11: 6,284,545 (GRCm39) |
L188P |
probably damaging |
Het |
Or51ac3 |
T |
C |
7: 103,214,471 (GRCm39) |
N5S |
probably benign |
Het |
Or5v1 |
C |
T |
17: 37,810,271 (GRCm39) |
S243F |
probably damaging |
Het |
Or9q1 |
T |
A |
19: 13,805,239 (GRCm39) |
I174F |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,604,842 (GRCm39) |
T2188M |
probably damaging |
Het |
Pck1 |
G |
A |
2: 173,000,368 (GRCm39) |
V600I |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,454,708 (GRCm39) |
C42R |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,861,469 (GRCm39) |
R53H |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,938,995 (GRCm39) |
H426Y |
probably damaging |
Het |
Retreg2 |
C |
T |
1: 75,123,356 (GRCm39) |
P428L |
probably benign |
Het |
Rev3l |
G |
T |
10: 39,701,152 (GRCm39) |
S1883I |
probably damaging |
Het |
Rinl |
CGGG |
CGGGGG |
7: 28,497,083 (GRCm39) |
|
probably null |
Het |
Rora |
T |
C |
9: 69,282,717 (GRCm39) |
S356P |
probably damaging |
Het |
Slc31a1 |
T |
C |
4: 62,307,008 (GRCm39) |
V188A |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,306,879 (GRCm39) |
K335E |
probably damaging |
Het |
Spata22 |
C |
A |
11: 73,235,504 (GRCm39) |
H274N |
possibly damaging |
Het |
Srrm1 |
T |
C |
4: 135,048,722 (GRCm39) |
|
probably benign |
Het |
Stab2 |
A |
T |
10: 86,803,550 (GRCm39) |
I333N |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,028,745 (GRCm39) |
Y153H |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,021,883 (GRCm39) |
T825A |
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,038,685 (GRCm39) |
D102E |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTGTGCTCAAGAGTATG -3'
(R):5'- CTTTCCATGAGTCTCAGGCAC -3'
Sequencing Primer
(F):5'- CCCCTGTGCTCAAGAGTATGATAGAG -3'
(R):5'- AGAGCCTAGCGATCCTCAGCTAG -3'
|
Posted On |
2015-01-23 |