Incidental Mutation 'IGL00973:Usp20'
ID27010
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 #IGL00973
Quality Score
Status
Chromosome2
Chromosomal Location30982279-31023586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 31004950 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 149 (N149T)
Ref Sequence ENSEMBL: ENSMUSP00000127388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000125601] [ENSMUST00000128295] [ENSMUST00000138161] [ENSMUST00000142232] [ENSMUST00000170476]
Predicted Effect probably damaging
Transcript: ENSMUST00000061544
AA Change: N149T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
AA Change: N149T

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: N149T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: N149T

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: ENSMUST00000125601
SMART Domains Protein: ENSMUSP00000121699
Gene: ENSMUSG00000026854

DomainStartEndE-ValueType
Pfam:zf-UBP 30 66 1.6e-8 PFAM
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 unknown
Transcript: ENSMUST00000136588
AA Change: N113T
SMART Domains Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854
AA Change: N113T

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 probably benign
Transcript: ENSMUST00000142232
SMART Domains Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854

DomainStartEndE-ValueType
PDB:2UZG|A 70 99 5e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154634
Predicted Effect probably damaging
Transcript: ENSMUST00000170476
AA Change: N149T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: N149T

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,807,470 D906Y probably damaging Het
Cdh18 A G 15: 23,173,796 K32R probably damaging Het
Chtf18 G A 17: 25,722,116 A636V probably benign Het
Clcn6 A G 4: 148,013,788 probably benign Het
Dspp A C 5: 104,176,892 K374Q possibly damaging Het
Dusp27 T C 1: 166,099,458 S862G probably benign Het
Ehmt2 C T 17: 34,910,815 R962C probably damaging Het
Frrs1l T C 4: 56,972,369 K111E probably damaging Het
Galnt5 A G 2: 57,998,939 T184A probably benign Het
Glud1 C T 14: 34,319,942 T169I probably damaging Het
Hinfp T G 9: 44,298,139 D283A probably benign Het
Hmcn2 C T 2: 31,383,821 probably benign Het
Hs6st3 A T 14: 119,869,407 Y409F possibly damaging Het
Ighv15-2 A T 12: 114,564,870 V20D possibly damaging Het
Kif17 A G 4: 138,275,057 T91A probably benign Het
Mical3 T C 6: 120,934,924 probably benign Het
Myo1e C T 9: 70,338,787 T420M probably damaging Het
Olfr876 C A 9: 37,804,782 S290R probably damaging Het
Ovgp1 T A 3: 105,981,277 Y316* probably null Het
Plekha1 T A 7: 130,911,013 V313D probably damaging Het
Polr1e C A 4: 45,031,364 probably benign Het
Prdm15 A T 16: 97,806,167 probably benign Het
Ptpn4 T A 1: 119,741,371 M250L probably benign Het
Rtn1 A T 12: 72,408,511 L14Q probably benign Het
Sec24a T C 11: 51,729,577 probably null Het
Sox7 A G 14: 63,948,187 H224R probably benign Het
Sucla2 T C 14: 73,590,907 I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,179,408 probably benign Het
Ube2o T A 11: 116,541,205 K940M probably damaging Het
Utp6 C T 11: 79,955,705 W150* probably null Het
Wdr27 A C 17: 14,913,878 H475Q probably benign Het
Other mutations in Usp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-04-17