Incidental Mutation 'IGL01584:Usp5'
ID 91467
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 # IGL01584
Quality Score
Status
Chromosome 6
Chromosomal Location 124791982-124806404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124796350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 583 (V583E)
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: V583E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: V583E

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 possibly damaging
Transcript: ENSMUST00000122110
AA Change: V583E

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: V583E

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,195,749 (GRCm39) V570A probably damaging Het
Abcb1a T C 5: 8,748,637 (GRCm39) S323P possibly damaging Het
Adcy8 C T 15: 64,687,170 (GRCm39) D445N probably damaging Het
Cdc14a A T 3: 116,186,474 (GRCm39) Y102* probably null Het
Cubn A G 2: 13,313,472 (GRCm39) probably benign Het
Dcaf7 T C 11: 105,944,653 (GRCm39) S279P probably benign Het
Dock10 T C 1: 80,511,567 (GRCm39) Q1514R probably damaging Het
Dtx2 G A 5: 136,055,420 (GRCm39) S369N possibly damaging Het
Dusp11 A G 6: 85,930,376 (GRCm39) F136S probably damaging Het
Fbxo32 T C 15: 58,047,632 (GRCm39) D227G probably damaging Het
Flg2 T A 3: 93,120,773 (GRCm39) V1215E unknown Het
Flg2 A T 3: 93,122,777 (GRCm39) D1649V unknown Het
Gabbr2 T C 4: 46,674,524 (GRCm39) K821R probably damaging Het
Gga2 T C 7: 121,590,761 (GRCm39) T516A probably benign Het
Gm15446 T A 5: 110,088,668 (GRCm39) *64K probably null Het
Gm5900 T C 7: 104,599,361 (GRCm39) noncoding transcript Het
Il17rb A G 14: 29,725,637 (GRCm39) F121S probably damaging Het
Ip6k3 C A 17: 27,370,034 (GRCm39) R128L probably benign Het
Kmt2d A T 15: 98,754,250 (GRCm39) probably benign Het
Lrrn4 A G 2: 132,719,996 (GRCm39) L268P probably damaging Het
Mthfd1l C A 10: 3,966,738 (GRCm39) S332R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5t17 G A 2: 86,832,495 (GRCm39) V61I probably benign Het
Pdzd2 T C 15: 12,592,569 (GRCm39) E25G probably damaging Het
Prima1 A T 12: 103,169,047 (GRCm39) probably null Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Ryr2 C T 13: 11,616,644 (GRCm39) probably null Het
Sema5b G T 16: 35,465,793 (GRCm39) C114F probably damaging Het
Spata31f1e A C 4: 42,794,014 (GRCm39) S39R probably damaging Het
Speg T C 1: 75,407,581 (GRCm39) V3196A probably damaging Het
Svs3b T C 2: 164,097,943 (GRCm39) Y126C probably benign Het
Tmem171 T C 13: 98,828,683 (GRCm39) probably null Het
Tnrc6b T A 15: 80,763,883 (GRCm39) W462R probably benign Het
Trdmt1 T C 2: 13,524,739 (GRCm39) R239G probably benign Het
Utrn A G 10: 12,602,111 (GRCm39) V639A probably benign Het
Vmn1r206 T C 13: 22,804,964 (GRCm39) K81R probably damaging Het
Vwa3a A G 7: 120,383,197 (GRCm39) I599M 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
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
IGL02677:Usp5 APN 6 124,796,389 (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 2013-12-09