Incidental Mutation 'IGL03396:Usp20'
ID421276
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 #IGL03396
Quality Score
Status
Chromosome2
Chromosomal Location30982279-31023586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31011717 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 498 (V498A)
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: V498A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: V498A

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: V498A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: V498A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Gjc1 T C 11: 102,800,527 K217E probably benign Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Lilr4b A G 10: 51,481,157 I30V possibly damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr1450 T A 19: 12,953,820 V77E probably damaging Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Pot1a A C 6: 25,745,914 I596R possibly damaging Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Slc38a10 A T 11: 120,128,475 I360N probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign 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
IGL01601:Usp20 APN 2 31011794 missense probably benign 0.04
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
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
R7603:Usp20 UTSW 2 31011474 missense probably damaging 1.00
R7887:Usp20 UTSW 2 31020894 missense probably benign 0.34
R7970:Usp20 UTSW 2 31020894 missense probably benign 0.34
Posted On2016-08-02