Incidental Mutation 'IGL01787:Usp5'
ID155088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp5
Ensembl Gene ENSMUSG00000038429
Gene Nameubiquitin specific peptidase 5 (isopeptidase T)
SynonymsUcht
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01787
Quality Score
Status
Chromosome6
Chromosomal Location124815019-124829484 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124824226 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 179 (D179E)
Ref Sequence ENSEMBL: ENSMUSP00000118200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000142058] [ENSMUST00000153306]
Predicted Effect probably benign
Transcript: ENSMUST00000047510
AA Change: D225E

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: D225E

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: D225E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: D225E

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: ENSMUST00000141042
Predicted Effect probably benign
Transcript: ENSMUST00000142058
AA Change: D207E

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: D207E

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: ENSMUST00000146098
Predicted Effect possibly damaging
Transcript: ENSMUST00000153306
AA Change: D179E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
AA Change: D179E

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,753,322 S1772P probably benign Het
Epsti1 T C 14: 77,972,612 probably null Het
Gm4758 T A 16: 36,311,229 Y34N probably damaging Het
Mtrr A T 13: 68,571,147 L325Q probably damaging Het
Neb T C 2: 52,296,355 K902E possibly damaging Het
Nfkbie T C 17: 45,556,263 L108P probably damaging Het
Olfr1263 A T 2: 90,015,311 Y127F probably damaging Het
Olfr136 T A 17: 38,335,579 C141S probably damaging Het
Pcdh15 A G 10: 74,450,283 D712G probably benign Het
Polr3k T C 2: 181,864,458 probably benign Het
Shkbp1 A C 7: 27,342,450 F660V possibly damaging Het
Smchd1 T C 17: 71,391,418 D1121G probably damaging Het
Srgap3 A T 6: 112,723,022 D998E probably benign Het
Stab1 T C 14: 31,139,808 D14G probably damaging Het
Tap1 T C 17: 34,196,604 S641P probably benign Het
Tgm3 C T 2: 130,047,740 S618F possibly damaging Het
Tgm6 T C 2: 130,151,434 probably benign Het
Tmco5 A T 2: 116,887,300 E194D probably damaging Het
Treml4 T A 17: 48,264,704 V45E probably damaging Het
Uggt2 A T 14: 119,081,734 M292K probably damaging Het
Ythdf1 A G 2: 180,911,693 L216P probably damaging Het
Zfp948 C T 17: 21,587,071 A175V probably benign Het
Other mutations in Usp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Usp5 APN 6 124829353 missense probably benign 0.00
IGL00905:Usp5 APN 6 124815613 missense probably damaging 1.00
IGL01584:Usp5 APN 6 124819387 missense probably damaging 1.00
IGL01642:Usp5 APN 6 124820453 missense probably damaging 0.99
IGL02394:Usp5 APN 6 124822709 missense probably damaging 1.00
IGL02677:Usp5 APN 6 124819426 missense probably damaging 1.00
IGL03392:Usp5 APN 6 124826387 missense probably damaging 1.00
R0594:Usp5 UTSW 6 124817424 missense probably damaging 0.99
R1522:Usp5 UTSW 6 124825166 missense probably benign
R1719:Usp5 UTSW 6 124823460 missense possibly damaging 0.94
R2185:Usp5 UTSW 6 124817410 missense probably damaging 0.99
R3115:Usp5 UTSW 6 124815597 missense probably damaging 1.00
R4196:Usp5 UTSW 6 124824938 missense possibly damaging 0.78
R4347:Usp5 UTSW 6 124821195 missense probably damaging 1.00
R4386:Usp5 UTSW 6 124818474 critical splice donor site probably null
R4500:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4501:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4526:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4527:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4528:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4684:Usp5 UTSW 6 124817956 missense probably damaging 1.00
R4912:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4913:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4954:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4956:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4957:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R4958:Usp5 UTSW 6 124822630 missense possibly damaging 0.71
R5071:Usp5 UTSW 6 124826379 missense probably benign 0.13
R6020:Usp5 UTSW 6 124817613 unclassified probably benign
R6236:Usp5 UTSW 6 124818478 missense probably benign 0.05
R6370:Usp5 UTSW 6 124820428 missense probably benign 0.01
R7090:Usp5 UTSW 6 124829394 start codon destroyed probably null
R7317:Usp5 UTSW 6 124826318 missense probably damaging 0.98
R7447:Usp5 UTSW 6 124821114 missense probably damaging 1.00
R7572:Usp5 UTSW 6 124818007 missense probably damaging 0.99
R7598:Usp5 UTSW 6 124826379 missense possibly damaging 0.73
X0058:Usp5 UTSW 6 124824176 missense probably damaging 1.00
Z1177:Usp5 UTSW 6 124825148 missense probably damaging 0.97
Posted On2014-02-04