Incidental Mutation 'R9079:Usp20'
| ID |
713547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp20
|
| Ensembl Gene |
ENSMUSG00000026854 |
| Gene Name |
ubiquitin specific peptidase 20 |
| Synonyms |
1700055M05Rik, Vdu2 |
| MMRRC Submission |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9079 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30982279-31023586 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 31005108 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061544]
[ENSMUST00000102849]
[ENSMUST00000125601]
[ENSMUST00000128295]
[ENSMUST00000138161]
[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 benign
Transcript: ENSMUST00000102849
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
| 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
|
| 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 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
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900055J20Rik |
A |
G |
18: 40,257,027 (GRCm38) |
|
probably benign |
Het |
| Atad2 |
A |
T |
15: 58,125,827 (GRCm38) |
S212R |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,205,500 (GRCm38) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,713,950 (GRCm38) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,998,890 (GRCm38) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,728,679 (GRCm38) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,939,939 (GRCm38) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,644,420 (GRCm38) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,130,212 (GRCm38) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,287,103 (GRCm38) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,094,742 (GRCm38) |
D549E |
unknown |
Het |
| Extl1 |
T |
A |
4: 134,362,664 (GRCm38) |
N378Y |
probably damaging |
Het |
| Fam160a1 |
C |
A |
3: 85,672,283 (GRCm38) |
G872* |
probably null |
Het |
| Fbxo4 |
C |
T |
15: 3,968,906 (GRCm38) |
|
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 84,726,783 (GRCm38) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,415,045 (GRCm38) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,096,324 (GRCm38) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,790,137 (GRCm38) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,649,801 (GRCm38) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,528,087 (GRCm38) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 71,679,254 (GRCm38) |
E158A |
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,359,501 (GRCm38) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,650,869 (GRCm38) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,402,897 (GRCm38) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,393,553 (GRCm38) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,802,248 (GRCm38) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,623,254 (GRCm38) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,423,219 (GRCm38) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,294,509 (GRCm38) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,164,059 (GRCm38) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,550,006 (GRCm38) |
E440D |
possibly damaging |
Het |
| Olfr364-ps1 |
T |
C |
2: 37,146,977 (GRCm38) |
V255A |
probably damaging |
Het |
| Olfr777 |
A |
T |
10: 129,268,597 (GRCm38) |
M242K |
possibly damaging |
Het |
| Olfr828 |
A |
T |
9: 18,815,435 (GRCm38) |
N286K |
probably damaging |
Het |
| Olfr971 |
T |
A |
9: 39,839,473 (GRCm38) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 109,063,447 (GRCm38) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,050,614 (GRCm38) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,024,466 (GRCm38) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 56,045,109 (GRCm38) |
|
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,731,654 (GRCm38) |
R1069H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,968,900 (GRCm38) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,326,898 (GRCm38) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,336,389 (GRCm38) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,630,680 (GRCm38) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm38) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 65,301,218 (GRCm38) |
I1636N |
possibly damaging |
Het |
| Tmem136 |
C |
T |
9: 43,111,369 (GRCm38) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,937 (GRCm38) |
I2953V |
possibly damaging |
Het |
| Trove2 |
A |
C |
1: 143,765,781 (GRCm38) |
L314R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,802,390 (GRCm38) |
F14107L |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 21,163,054 (GRCm38) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,501,432 (GRCm38) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,929,378 (GRCm38) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 25,857,429 (GRCm38) |
W45R |
|
Het |
|
| Other mutations in Usp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Usp20
|
APN |
2 |
31,004,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01444:Usp20
|
APN |
2 |
30,998,789 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
IGL01601:Usp20
|
APN |
2 |
31,011,794 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01785:Usp20
|
APN |
2 |
31,017,163 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01786:Usp20
|
APN |
2 |
31,017,163 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02129:Usp20
|
APN |
2 |
31,004,450 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02147:Usp20
|
APN |
2 |
31,006,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Usp20
|
APN |
2 |
31,011,717 (GRCm38) |
missense |
probably benign |
|
|
BB007:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
BB017:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
PIT4453001:Usp20
|
UTSW |
2 |
31,017,486 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0111:Usp20
|
UTSW |
2 |
31,002,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0369:Usp20
|
UTSW |
2 |
31,011,104 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0479:Usp20
|
UTSW |
2 |
31,017,475 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0538:Usp20
|
UTSW |
2 |
31,004,450 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1023:Usp20
|
UTSW |
2 |
31,007,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Usp20
|
UTSW |
2 |
31,011,785 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1635:Usp20
|
UTSW |
2 |
31,018,818 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2114:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2116:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Usp20
|
UTSW |
2 |
31,016,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Usp20
|
UTSW |
2 |
31,018,738 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2244:Usp20
|
UTSW |
2 |
31,010,331 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2883:Usp20
|
UTSW |
2 |
31,018,800 (GRCm38) |
missense |
probably benign |
|
|
R4734:Usp20
|
UTSW |
2 |
31,019,824 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5507:Usp20
|
UTSW |
2 |
31,010,226 (GRCm38) |
missense |
probably benign |
|
|
R5770:Usp20
|
UTSW |
2 |
31,017,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5862:Usp20
|
UTSW |
2 |
31,006,449 (GRCm38) |
nonsense |
probably null |
|
|
R6315:Usp20
|
UTSW |
2 |
31,017,758 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7603:Usp20
|
UTSW |
2 |
31,011,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7887:Usp20
|
UTSW |
2 |
31,020,894 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7930:Usp20
|
UTSW |
2 |
31,010,544 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8542:Usp20
|
UTSW |
2 |
31,011,624 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8965:Usp20
|
UTSW |
2 |
31,011,785 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9226:Usp20
|
UTSW |
2 |
31,017,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9417:Usp20
|
UTSW |
2 |
30,983,018 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9459:Usp20
|
UTSW |
2 |
31,011,012 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Usp20
|
UTSW |
2 |
31,019,818 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTGTAGGCCTCACAGG -3'
(R):5'- ACGTGACTGGGCTACAATGAAG -3'
Sequencing Primer
(F):5'- CTCACAGGCATGAAGAACCTGG -3'
(R):5'- TGGGCTACAATGAAGTTCCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation