Incidental Mutation 'R1023:Usp20'
ID 94580
Institutional Source Beutler Lab
Gene Symbol Usp20
Ensembl Gene ENSMUSG00000026854
Gene Name ubiquitin specific peptidase 20
Synonyms Vdu2, 1700055M05Rik
MMRRC Submission 039125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1023 (G1)
Quality Score 184
Status Validated
Chromosome 2
Chromosomal Location 30872291-30912667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30897825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 216 (G216W)
Ref Sequence ENSEMBL: ENSMUSP00000127388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000128295] [ENSMUST00000138161] [ENSMUST00000170476]
AlphaFold Q8C6M1
Predicted Effect probably benign
Transcript: ENSMUST00000061544
SMART Domains Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854

DomainStartEndE-ValueType
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: G216W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: G216W

DomainStartEndE-ValueType
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: ENSMUST00000128295
SMART Domains Protein: ENSMUSP00000115613
Gene: ENSMUSG00000026854

DomainStartEndE-ValueType
Pfam:zf-UBP 30 77 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136588
SMART Domains Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:zf-UBP 30 77 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154351
Predicted Effect probably damaging
Transcript: ENSMUST00000170476
AA Change: G216W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: G216W

DomainStartEndE-ValueType
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: ENSMUST00000154634
Meta Mutation Damage Score 0.8136 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Cdkl2 A T 5: 92,187,145 (GRCm39) D40E possibly damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Plac8 A T 5: 100,704,447 (GRCm39) D83E probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubap2l A G 3: 89,955,180 (GRCm39) probably benign Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown Het
Zfp335 G A 2: 164,734,505 (GRCm39) H1254Y possibly damaging Het
Other mutations in Usp20
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTAGGAACAATGCTGTGGTCCTACTG -3'
(R):5'- GTTACTGGGAAACCTCACATTCTCGTG -3'

Sequencing Primer
(F):5'- TAGCTCGGACAGCATTGG -3'
(R):5'- TCGTGAGTAAAAAGGGCCTGAC -3'
Posted On 2014-01-05