Incidental Mutation 'IGL02677:Usp5'
ID 303172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp5
Ensembl Gene ENSMUSG00000038429
Gene Name ubiquitin specific peptidase 5 (isopeptidase T)
Synonyms Ucht
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02677
Quality Score
Status
Chromosome 6
Chromosomal Location 124791982-124806404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124796389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 570 (V570A)
Ref Sequence ENSEMBL: ENSMUSP00000041299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000142058] [ENSMUST00000153306]
AlphaFold P56399
Predicted Effect probably damaging
Transcript: ENSMUST00000047510
AA Change: V570A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: V570A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Blast:ZnF_UBP 29 78 4e-19 BLAST
ZnF_UBP 198 253 6.47e-27 SMART
low complexity region 497 516 N/A INTRINSIC
UBA 656 694 3.12e-7 SMART
UBA 724 761 8.63e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122110
AA Change: V570A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: V570A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Blast:ZnF_UBP 29 78 4e-19 BLAST
ZnF_UBP 198 253 6.47e-27 SMART
low complexity region 497 516 N/A INTRINSIC
UBA 633 671 3.12e-7 SMART
UBA 701 738 8.63e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141042
Predicted Effect probably benign
Transcript: ENSMUST00000142058
SMART Domains Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Blast:ZnF_UBP 29 78 4e-20 BLAST
ZnF_UBP 180 235 6.47e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146098
Predicted Effect probably benign
Transcript: ENSMUST00000153306
SMART Domains Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429

DomainStartEndE-ValueType
Blast:ZnF_UBP 1 32 3e-7 BLAST
ZnF_UBP 152 207 6.47e-27 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Usp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Usp5 APN 6 124,806,316 (GRCm39) missense probably benign 0.00
IGL00905:Usp5 APN 6 124,792,576 (GRCm39) missense probably damaging 1.00
IGL01584:Usp5 APN 6 124,796,350 (GRCm39) missense probably damaging 1.00
IGL01642:Usp5 APN 6 124,797,416 (GRCm39) missense probably damaging 0.99
IGL01787:Usp5 APN 6 124,801,189 (GRCm39) missense possibly damaging 0.95
IGL02394:Usp5 APN 6 124,799,672 (GRCm39) missense probably damaging 1.00
IGL03392:Usp5 APN 6 124,803,350 (GRCm39) missense probably damaging 1.00
BB004:Usp5 UTSW 6 124,801,192 (GRCm39) missense probably benign 0.06
BB014:Usp5 UTSW 6 124,801,192 (GRCm39) missense probably benign 0.06
R0594:Usp5 UTSW 6 124,794,387 (GRCm39) missense probably damaging 0.99
R1522:Usp5 UTSW 6 124,802,129 (GRCm39) missense probably benign
R1719:Usp5 UTSW 6 124,800,423 (GRCm39) missense possibly damaging 0.94
R2185:Usp5 UTSW 6 124,794,373 (GRCm39) missense probably damaging 0.99
R3115:Usp5 UTSW 6 124,792,560 (GRCm39) missense probably damaging 1.00
R4196:Usp5 UTSW 6 124,801,901 (GRCm39) missense possibly damaging 0.78
R4347:Usp5 UTSW 6 124,798,158 (GRCm39) missense probably damaging 1.00
R4386:Usp5 UTSW 6 124,795,437 (GRCm39) critical splice donor site probably null
R4500:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4501:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4526:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4527:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4528:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4684:Usp5 UTSW 6 124,794,919 (GRCm39) missense probably damaging 1.00
R4912:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4913:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4954:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4956:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4957:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R4958:Usp5 UTSW 6 124,799,593 (GRCm39) missense possibly damaging 0.71
R5071:Usp5 UTSW 6 124,803,342 (GRCm39) missense probably benign 0.13
R6020:Usp5 UTSW 6 124,794,576 (GRCm39) unclassified probably benign
R6236:Usp5 UTSW 6 124,795,441 (GRCm39) missense probably benign 0.05
R6370:Usp5 UTSW 6 124,797,391 (GRCm39) missense probably benign 0.01
R7090:Usp5 UTSW 6 124,806,357 (GRCm39) start codon destroyed probably null
R7317:Usp5 UTSW 6 124,803,281 (GRCm39) missense probably damaging 0.98
R7447:Usp5 UTSW 6 124,798,077 (GRCm39) missense probably damaging 1.00
R7572:Usp5 UTSW 6 124,794,970 (GRCm39) missense probably damaging 0.99
R7598:Usp5 UTSW 6 124,803,342 (GRCm39) missense possibly damaging 0.73
R7927:Usp5 UTSW 6 124,801,192 (GRCm39) missense probably benign 0.06
R7931:Usp5 UTSW 6 124,801,409 (GRCm39) intron probably benign
R8089:Usp5 UTSW 6 124,797,373 (GRCm39) critical splice donor site probably null
R8361:Usp5 UTSW 6 124,801,948 (GRCm39) missense probably damaging 1.00
R8544:Usp5 UTSW 6 124,800,480 (GRCm39) missense probably damaging 1.00
R8679:Usp5 UTSW 6 124,794,394 (GRCm39) missense possibly damaging 0.94
R9115:Usp5 UTSW 6 124,803,384 (GRCm39) missense probably damaging 0.97
R9128:Usp5 UTSW 6 124,800,414 (GRCm39) critical splice donor site probably null
R9227:Usp5 UTSW 6 124,795,599 (GRCm39) missense probably damaging 1.00
R9651:Usp5 UTSW 6 124,799,501 (GRCm39) missense possibly damaging 0.91
X0058:Usp5 UTSW 6 124,801,139 (GRCm39) missense probably damaging 1.00
Z1177:Usp5 UTSW 6 124,802,111 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16