Incidental Mutation 'IGL02487:Usp10'
ID295492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp10
Ensembl Gene ENSMUSG00000031826
Gene Nameubiquitin specific peptidase 10
SynonymsUchrp, 2610014N07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02487
Quality Score
Status
Chromosome8
Chromosomal Location119910360-119957560 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119948775 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 511 (S511Y)
Ref Sequence ENSEMBL: ENSMUSP00000123590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108982] [ENSMUST00000108988] [ENSMUST00000127664] [ENSMUST00000144458]
Predicted Effect probably damaging
Transcript: ENSMUST00000108982
AA Change: S74Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: S74Y

DomainStartEndE-ValueType
Pfam:UCH 9 113 1.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108988
AA Change: S510Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: S510Y

DomainStartEndE-ValueType
low complexity region 117 131 N/A INTRINSIC
low complexity region 147 155 N/A INTRINSIC
Pfam:UCH 408 786 9.3e-48 PFAM
Pfam:UCH_1 409 764 4.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125066
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134729
SMART Domains Protein: ENSMUSP00000134182
Gene: ENSMUSG00000031826

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143615
Predicted Effect probably damaging
Transcript: ENSMUST00000144458
AA Change: S511Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: S511Y

DomainStartEndE-ValueType
Pfam:PAM2 78 95 1.1e-7 PFAM
low complexity region 118 132 N/A INTRINSIC
low complexity region 148 156 N/A INTRINSIC
Pfam:UCH 409 787 1.2e-44 PFAM
Pfam:UCH_1 410 765 4.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212612
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,336,943 I308N possibly damaging Het
Adal C T 2: 121,155,396 T204I probably benign Het
Akirin1 A G 4: 123,743,564 F76S probably benign Het
Arhgef5 A T 6: 43,283,982 N1447I probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
B230217C12Rik A G 11: 97,842,228 N125S probably benign Het
Dcaf11 G T 14: 55,569,114 K457N probably benign Het
Dnah10 G A 5: 124,793,852 V2348M possibly damaging Het
Eif4g3 T C 4: 138,203,378 V1665A possibly damaging Het
Fat4 A T 3: 38,887,245 I96F probably damaging Het
Gm21671 T A 5: 25,951,607 I125F probably benign Het
Gm29253 T C 1: 75,172,677 probably null Het
Gm4759 A G 7: 106,423,264 noncoding transcript Het
Hnrnpm C A 17: 33,648,813 G676C probably damaging Het
Iah1 T C 12: 21,321,439 M185T probably damaging Het
Klc1 A T 12: 111,772,452 I45F probably damaging Het
Lce1h G A 3: 92,763,741 P35S unknown Het
Lrrc37a T C 11: 103,496,037 E2419G unknown Het
Lrrc8c T A 5: 105,606,591 S77R probably benign Het
Mcm3ap T A 10: 76,507,555 probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Ntng1 A T 3: 109,935,047 S137T probably damaging Het
Odf2 C A 2: 29,920,839 A578E possibly damaging Het
Pecam1 G A 11: 106,671,780 T698I probably damaging Het
Pex10 A T 4: 155,070,733 H288L probably damaging Het
Pkhd1l1 T C 15: 44,459,426 V36A possibly damaging Het
Podxl T C 6: 31,523,022 *504W probably null Het
Rab42 A G 4: 132,302,303 S203P probably benign Het
Rsf1 T C 7: 97,639,491 S192P probably damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sost C A 11: 101,966,807 R56L possibly damaging Het
Sptbn4 A G 7: 27,419,097 V264A probably damaging Het
Stx3 A G 19: 11,783,105 V236A probably damaging Het
Syt2 T C 1: 134,740,865 F5S probably damaging Het
Tex43 T A 18: 56,594,499 W90R possibly damaging Het
Thrap3 T C 4: 126,167,001 D855G possibly damaging Het
Ticrr T C 7: 79,683,021 V874A possibly damaging Het
Tmem26 A G 10: 68,778,733 E326G probably benign Het
Tsga13 A T 6: 30,907,427 Y119N probably damaging Het
Tspoap1 C T 11: 87,762,516 T136I possibly damaging Het
Ttc21b T C 2: 66,235,156 T425A probably benign Het
Ttc27 A G 17: 74,856,554 Y719C probably damaging Het
Vmn1r197 A G 13: 22,328,622 M238V probably damaging Het
Other mutations in Usp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02000:Usp10 APN 8 119948741 missense possibly damaging 0.95
IGL02444:Usp10 APN 8 119948693 missense possibly damaging 0.70
IGL02526:Usp10 APN 8 119948775 missense probably damaging 1.00
IGL02951:Usp10 APN 8 119947086 missense probably benign 0.01
IGL03003:Usp10 APN 8 119954810 missense possibly damaging 0.90
IGL03049:Usp10 APN 8 119956627 missense probably benign 0.01
PIT4585001:Usp10 UTSW 8 119954892 missense probably benign 0.02
R0090:Usp10 UTSW 8 119953196 nonsense probably null
R0329:Usp10 UTSW 8 119936557 nonsense probably null
R0550:Usp10 UTSW 8 119947801 missense probably damaging 0.98
R2349:Usp10 UTSW 8 119956709 makesense probably null
R4345:Usp10 UTSW 8 119954814 missense probably damaging 1.00
R4782:Usp10 UTSW 8 119941191 missense probably benign 0.03
R5182:Usp10 UTSW 8 119956681 missense possibly damaging 0.95
R5184:Usp10 UTSW 8 119956681 missense possibly damaging 0.95
R5461:Usp10 UTSW 8 119956667 missense probably benign 0.44
R5749:Usp10 UTSW 8 119941133 missense probably damaging 0.99
R5873:Usp10 UTSW 8 119947092 missense possibly damaging 0.60
R5935:Usp10 UTSW 8 119947089 missense possibly damaging 0.74
R6242:Usp10 UTSW 8 119941838 missense probably benign 0.01
R6362:Usp10 UTSW 8 119941316 missense probably benign 0.00
R6608:Usp10 UTSW 8 119948422 missense probably benign 0.06
R6774:Usp10 UTSW 8 119951972 missense probably benign
R7148:Usp10 UTSW 8 119936550 missense possibly damaging 0.47
R7164:Usp10 UTSW 8 119942108 missense probably damaging 1.00
R7238:Usp10 UTSW 8 119941544 missense probably benign
R7310:Usp10 UTSW 8 119941605 missense possibly damaging 0.89
R7792:Usp10 UTSW 8 119952001 missense possibly damaging 0.54
Posted On2015-04-16