Incidental Mutation 'IGL01444:Usp20'
ID84363
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? Probably non essential (E-score: 0.241) question?
Stock #IGL01444
Quality Score
Status
Chromosome2
Chromosomal Location30982279-31023586 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 30998789 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000127388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000125601] [ENSMUST00000128295] [ENSMUST00000138161] [ENSMUST00000142232] [ENSMUST00000170476]
Predicted Effect probably null
Transcript: ENSMUST00000061544
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
AA Change: M1K

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 null
Transcript: ENSMUST00000102849
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: M1K

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 null
Transcript: ENSMUST00000125601
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121699
Gene: ENSMUSG00000026854
AA Change: M1K

DomainStartEndE-ValueType
Pfam:zf-UBP 30 66 1.6e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000128295
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115613
Gene: ENSMUSG00000026854
AA Change: M1K

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 null
Transcript: ENSMUST00000138161
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116696
Gene: ENSMUSG00000026854
AA Change: M1K

DomainStartEndE-ValueType
Pfam:zf-UBP 30 77 1.1e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142232
AA Change: M67K
SMART Domains Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854
AA Change: M67K

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 null
Transcript: ENSMUST00000170476
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: M1K

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T G 11: 23,620,225 probably benign Het
Adad1 A T 3: 37,092,034 N517I probably damaging Het
Adam25 G A 8: 40,754,921 R408H probably benign Het
Ang C A 14: 51,101,667 Y88* probably null Het
Ankrd42 T C 7: 92,610,585 T327A probably damaging Het
Birc6 A G 17: 74,631,687 D2696G probably damaging Het
Chd3 G A 11: 69,348,742 T1717M probably benign Het
Csmd1 T A 8: 16,200,055 M970L probably benign Het
Dhx32 T C 7: 133,748,977 I121M possibly damaging Het
Dnah11 G A 12: 118,020,232 S2506F possibly damaging Het
Dscam T A 16: 96,673,709 I1218F possibly damaging Het
Duox1 T C 2: 122,340,090 L1197P probably damaging Het
Eps8l2 T C 7: 141,361,375 Het
Exoc3 T C 13: 74,206,935 K49R probably damaging Het
Exoc8 T A 8: 124,895,841 T596S possibly damaging Het
F13a1 C T 13: 36,918,577 G391R probably null Het
Fam35a C A 14: 34,237,557 V823F probably damaging Het
Fat3 A T 9: 15,998,848 S1953T probably damaging Het
Gls2 C A 10: 128,201,347 N252K probably damaging Het
Gm5346 A T 8: 43,626,433 D251E probably benign Het
Haus2 G A 2: 120,615,942 R115K probably benign Het
Ift122 A G 6: 115,884,379 K262E probably benign Het
Islr2 C T 9: 58,198,378 C533Y probably damaging Het
Lrp2 A T 2: 69,443,716 F3997I possibly damaging Het
Nt5c1a C T 4: 123,216,169 R354W probably damaging Het
Olfr776 T A 10: 129,261,335 C125S probably damaging Het
Pcolce A T 5: 137,607,476 S200R probably damaging Het
Plec A G 15: 76,179,297 V2213A possibly damaging Het
Prmt3 T A 7: 49,780,372 D74E probably benign Het
Ptk7 A G 17: 46,565,387 F1046S probably damaging Het
Ranbp2 T C 10: 58,475,300 Y887H possibly damaging Het
Sez6l2 G A 7: 126,961,883 E447K possibly damaging Het
Snrnp70 C T 7: 45,387,236 probably null Het
Timm10 T A 2: 84,829,864 V49E probably damaging Het
Tox2 T C 2: 163,225,466 probably benign Het
Usp32 A C 11: 85,059,164 L223V probably damaging Het
Zeb1 T C 18: 5,767,138 S550P probably benign Het
Zeb1 G T 18: 5,767,906 A806S probably damaging Het
Other mutations in Usp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Usp20 APN 2 31004950 missense probably damaging 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
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 On2013-11-11