Incidental Mutation 'R9459:Usp20'
| ID |
714739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp20
|
| Ensembl Gene |
ENSMUSG00000026854 |
| Gene Name |
ubiquitin specific peptidase 20 |
| Synonyms |
Vdu2, 1700055M05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30901024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 391
(S391F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061544
|
| SMART Domains |
Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
| 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: S391F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: S391F
| 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: 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 damaging
Transcript: ENSMUST00000170476
AA Change: S391F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: S391F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,735,414 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,189,468 (GRCm39) |
I390V |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,123,651 (GRCm39) |
N400S |
probably benign |
Het |
| Baalc |
A |
T |
15: 38,797,419 (GRCm39) |
N70I |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,464,094 (GRCm39) |
V1286D |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,234,470 (GRCm39) |
R81G |
possibly damaging |
Het |
| Cd209g |
T |
C |
8: 4,185,610 (GRCm39) |
S15P |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,883,884 (GRCm39) |
W207* |
probably null |
Het |
| Cmpk2 |
C |
T |
12: 26,528,022 (GRCm39) |
T413M |
probably damaging |
Het |
| Coq4 |
T |
A |
2: 29,678,562 (GRCm39) |
Y63N |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,117 (GRCm39) |
S1478T |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,134 (GRCm39) |
F378L |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,574,341 (GRCm39) |
V324A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,907 (GRCm39) |
L1200P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,794,679 (GRCm39) |
W285R |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,270,707 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,499,165 (GRCm39) |
T5I |
possibly damaging |
Het |
| Hps4 |
T |
C |
5: 112,522,875 (GRCm39) |
S578P |
probably benign |
Het |
| Kctd13 |
T |
A |
7: 126,544,254 (GRCm39) |
D317E |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,509 (GRCm39) |
D881E |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,171 (GRCm39) |
P473L |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,799,775 (GRCm39) |
D371V |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,758 (GRCm39) |
S112P |
possibly damaging |
Het |
| Msh3 |
A |
G |
13: 92,352,047 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Mybl1 |
A |
G |
1: 9,746,484 (GRCm39) |
V392A |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,722,380 (GRCm39) |
I1182V |
possibly damaging |
Het |
| Nectin1 |
A |
C |
9: 43,715,090 (GRCm39) |
E442A |
probably benign |
Het |
| Nscme3l |
T |
A |
19: 5,553,757 (GRCm39) |
H8L |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,474,884 (GRCm39) |
H839N |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,967 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i1b |
T |
C |
19: 13,896,674 (GRCm39) |
C97R |
possibly damaging |
Het |
| Pacs1 |
C |
T |
19: 5,195,098 (GRCm39) |
|
probably null |
Het |
| Pcdh17 |
G |
T |
14: 84,686,063 (GRCm39) |
E843D |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,228,572 (GRCm39) |
L1531P |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,129 (GRCm39) |
D973G |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,614,800 (GRCm39) |
Y214C |
probably damaging |
Het |
| Plcb1 |
T |
C |
2: 135,164,558 (GRCm39) |
Y427H |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,743,482 (GRCm39) |
N402S |
possibly damaging |
Het |
| Rassf4 |
T |
A |
6: 116,618,749 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,768,068 (GRCm39) |
T2856I |
probably damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,533,520 (GRCm39) |
K192* |
probably null |
Het |
| Slfn14 |
T |
G |
11: 83,170,198 (GRCm39) |
Q482P |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,205 (GRCm39) |
V64A |
probably benign |
Het |
| Tax1bp1 |
T |
G |
6: 52,706,314 (GRCm39) |
V105G |
probably damaging |
Het |
| Tbc1d22a |
T |
G |
15: 86,120,021 (GRCm39) |
S142A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,992,007 (GRCm39) |
F594S |
probably damaging |
Het |
| Uba3 |
T |
C |
6: 97,166,559 (GRCm39) |
I281V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,286,595 (GRCm39) |
E723G |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,199,555 (GRCm39) |
D166E |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,503 (GRCm39) |
V54A |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,668 (GRCm39) |
E411D |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,753 (GRCm39) |
I1194T |
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 |
|
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 |
|
|
Z1176:Usp20
|
UTSW |
2 |
30,909,830 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAATGGACTGGATGGCATC -3'
(R):5'- GACAAAGGTTGAAGTGCCCC -3'
Sequencing Primer
(F):5'- GATGGCATCCCGGTGTG -3'
(R):5'- AGTGCCCCAAACTGGTGACTATG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation