Incidental Mutation 'IGL01601:Usp20'
ID91785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp20
Ensembl Gene ENSMUSG00000026854
Gene Nameubiquitin specific peptidase 20
Synonyms1700055M05Rik, Vdu2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01601
Quality Score
Status
Chromosome2
Chromosomal Location30982279-31023586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31011794 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 524 (R524W)
Ref Sequence ENSEMBL: ENSMUSP00000127388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000170476]
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 benign
Transcript: ENSMUST00000102849
AA Change: R524W

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: R524W

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: ENSMUST00000170476
AA Change: R524W

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: R524W

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
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,193,478 C104S unknown Het
Adgrf2 T C 17: 42,710,049 D628G probably benign Het
Aldh1l1 T A 6: 90,591,841 I708N probably damaging Het
Ank3 T A 10: 70,004,725 F985I possibly damaging Het
Arap2 A G 5: 62,641,342 W1315R probably damaging Het
Arhgef33 C A 17: 80,347,683 Q106K probably damaging Het
Atad5 G A 11: 80,095,517 G477S probably benign Het
Chgb T A 2: 132,793,491 I451K probably benign Het
Cln6 T A 9: 62,846,970 I98N probably damaging Het
Commd1 T C 11: 22,899,981 E234G probably damaging Het
Dock2 C A 11: 34,239,528 probably null Het
Flrt2 T C 12: 95,779,595 S236P probably damaging Het
Garnl3 G A 2: 32,997,689 Q770* probably null Het
Gpr22 C T 12: 31,710,045 probably benign Het
Hmcn1 A T 1: 150,627,413 D3880E probably benign Het
Lgals8 T C 13: 12,456,338 probably benign Het
Mccc1 A G 3: 35,989,952 V214A probably benign Het
Nat8l T C 5: 33,998,465 L155P probably damaging Het
Nckipsd A G 9: 108,813,955 S359G probably benign Het
Pex6 A C 17: 46,723,724 N785T probably damaging Het
Ptprz1 T A 6: 23,000,438 H842Q probably damaging Het
Rhno1 A T 6: 128,358,058 S101T probably damaging Het
Rnf103 T G 6: 71,509,183 V266G probably damaging Het
Slc25a39 T C 11: 102,405,718 D100G probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Svep1 C T 4: 58,084,872 G1822E probably damaging Het
Tbl3 T A 17: 24,702,317 D500V probably damaging Het
Tmc5 T C 7: 118,623,824 probably benign Het
Wnk2 G T 13: 49,076,562 P829T probably damaging Het
Zmiz1 A G 14: 25,581,644 N84S possibly damaging Het
Other mutations in Usp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Usp20 APN 2 31004950 missense probably damaging 1.00
IGL01444:Usp20 APN 2 30998789 start codon destroyed probably null 1.00
IGL01785:Usp20 APN 2 31017163 missense probably benign 0.02
IGL01786:Usp20 APN 2 31017163 missense probably benign 0.02
IGL02129:Usp20 APN 2 31004450 missense probably benign 0.43
IGL02147:Usp20 APN 2 31006401 missense probably damaging 1.00
IGL03396:Usp20 APN 2 31011717 missense probably benign
PIT4453001:Usp20 UTSW 2 31017486 missense possibly damaging 0.47
R0111:Usp20 UTSW 2 31002612 missense probably damaging 1.00
R0369:Usp20 UTSW 2 31011104 missense probably benign 0.00
R0479:Usp20 UTSW 2 31017475 missense probably benign 0.18
R0538:Usp20 UTSW 2 31004450 missense probably damaging 0.99
R1023:Usp20 UTSW 2 31007813 missense probably damaging 1.00
R1183:Usp20 UTSW 2 31011785 missense probably benign 0.17
R1635:Usp20 UTSW 2 31018818 missense probably benign 0.03
R2114:Usp20 UTSW 2 31016305 missense probably damaging 1.00
R2115:Usp20 UTSW 2 31016305 missense probably damaging 1.00
R2116:Usp20 UTSW 2 31016305 missense probably damaging 1.00
R2117:Usp20 UTSW 2 31016305 missense probably damaging 1.00
R2232:Usp20 UTSW 2 31018738 missense probably benign 0.13
R2244:Usp20 UTSW 2 31010331 missense possibly damaging 0.65
R2883:Usp20 UTSW 2 31018800 missense probably benign
R4734:Usp20 UTSW 2 31019824 missense probably benign 0.31
R5507:Usp20 UTSW 2 31010226 missense probably benign
R5770:Usp20 UTSW 2 31017508 missense probably damaging 1.00
R5862:Usp20 UTSW 2 31006449 nonsense probably null
R6315:Usp20 UTSW 2 31017758 missense possibly damaging 0.70
Posted On2013-12-09