Incidental Mutation 'R9226:Usp20'
| ID |
699839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp20
|
| Ensembl Gene |
ENSMUSG00000026854 |
| Gene Name |
ubiquitin specific peptidase 20 |
| Synonyms |
Vdu2, 1700055M05Rik |
| MMRRC Submission |
068960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30872291-30912667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30907412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 648
(A648D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102849]
[ENSMUST00000170476]
|
| AlphaFold |
Q8C6M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102849
AA Change: A648D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: A648D
| 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 damaging
Transcript: ENSMUST00000170476
AA Change: A648D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: A648D
| 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 |
|
| Meta Mutation Damage Score |
0.8011 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (57/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,518 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrf4 |
C |
A |
17: 42,980,606 (GRCm39) |
A160S |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
| Adgrl4 |
G |
T |
3: 151,198,064 (GRCm39) |
|
probably null |
Het |
| Alg8 |
A |
G |
7: 97,027,423 (GRCm39) |
Y97C |
probably damaging |
Het |
| Ankrd12 |
T |
A |
17: 66,292,754 (GRCm39) |
D893V |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,791 (GRCm39) |
T385S |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,365 (GRCm39) |
C259S |
probably damaging |
Het |
| Ccer2 |
T |
C |
7: 28,456,561 (GRCm39) |
S102P |
possibly damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,132,320 (GRCm39) |
F101S |
probably damaging |
Het |
| Ctdsp1 |
G |
T |
1: 74,434,735 (GRCm39) |
G260W |
probably damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,277 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,901 (GRCm39) |
D53G |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,560,326 (GRCm39) |
I2115S |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,683,006 (GRCm39) |
F192L |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,317,839 (GRCm39) |
V1441A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,073 (GRCm39) |
C41S |
probably damaging |
Het |
| Lgalsl |
A |
T |
11: 20,779,306 (GRCm39) |
I113N |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,401,460 (GRCm39) |
D398G |
|
Het |
| Lrrc4b |
A |
G |
7: 44,112,099 (GRCm39) |
H657R |
possibly damaging |
Het |
| Map2k2 |
T |
C |
10: 80,955,193 (GRCm39) |
V228A |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,694,612 (GRCm39) |
I1112V |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,068,692 (GRCm39) |
M488K |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,750,924 (GRCm39) |
T565A |
|
Het |
| Nfat5 |
T |
C |
8: 108,095,401 (GRCm39) |
L1214P |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,885,328 (GRCm39) |
T223A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,187 (GRCm39) |
I199V |
probably benign |
Het |
| Or52s19 |
A |
G |
7: 103,008,092 (GRCm39) |
M103T |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,709 (GRCm39) |
R939W |
probably damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,059,671 (GRCm39) |
C3R |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,524 (GRCm39) |
I1803N |
probably damaging |
Het |
| Pygb |
C |
A |
2: 150,662,781 (GRCm39) |
H583N |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,839,645 (GRCm39) |
D878G |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,992,468 (GRCm39) |
Q414K |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,169,233 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,097,222 (GRCm39) |
Y361C |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,442,860 (GRCm39) |
I179T |
probably benign |
Het |
| Sgsm2 |
C |
T |
11: 74,748,960 (GRCm39) |
V567M |
possibly damaging |
Het |
| Sirt4 |
G |
A |
5: 115,618,372 (GRCm39) |
T234M |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,867,812 (GRCm39) |
K1653Q |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,559,722 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,076,206 (GRCm39) |
S280I |
probably damaging |
Het |
| Tex30 |
G |
A |
1: 44,126,133 (GRCm39) |
R199W |
probably damaging |
Het |
| Tjp3 |
A |
C |
10: 81,110,420 (GRCm39) |
F731V |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,360,143 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
A |
11: 115,683,191 (GRCm39) |
A658E |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,904,766 (GRCm39) |
L1177Q |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,051,845 (GRCm39) |
V1169D |
unknown |
Het |
| Vmn2r108 |
T |
G |
17: 20,691,330 (GRCm39) |
N398H |
probably benign |
Het |
| Whamm |
A |
T |
7: 81,243,655 (GRCm39) |
S626C |
probably damaging |
Het |
| Zbtb44 |
A |
G |
9: 30,975,524 (GRCm39) |
S385G |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,137 (GRCm39) |
Q166* |
probably null |
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 |
|
|
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'- TTTCTGGCCAAGGAGTGCAC -3'
(R):5'- TTGTGCATGGACACAAGCC -3'
Sequencing Primer
(F):5'- AAGGAGTGCACGTCCCAG -3'
(R):5'- TTTAGCATGCTGGGACACCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation