Incidental Mutation 'IGL02000:Usp10'
ID183026
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 #IGL02000
Quality Score
Status
Chromosome8
Chromosomal Location119910360-119957560 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119948741 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 63 (Y63N)
Ref Sequence ENSEMBL: ENSMUSP00000104610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108982] [ENSMUST00000108988] [ENSMUST00000127664] [ENSMUST00000144458]
Predicted Effect possibly damaging
Transcript: ENSMUST00000108982
AA Change: Y63N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: Y63N

DomainStartEndE-ValueType
Pfam:UCH 9 113 1.6e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108988
AA Change: Y499N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: Y499N

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 possibly damaging
Transcript: ENSMUST00000144458
AA Change: Y500N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: Y500N

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Usp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02444:Usp10 APN 8 119948693 missense possibly damaging 0.70
IGL02487:Usp10 APN 8 119948775 missense probably damaging 1.00
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
R8552:Usp10 UTSW 8 119956628 missense possibly damaging 0.81
Posted On2014-05-07