Incidental Mutation 'IGL02487:Usp10'
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
Chromosomal Location119910360-119957560 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119948775 bp
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

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

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

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

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

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