Incidental Mutation 'R6608:Usp10'
ID 526426
Institutional Source Beutler Lab
Gene Symbol Usp10
Ensembl Gene ENSMUSG00000031826
Gene Name ubiquitin specific peptidase 10
Synonyms 2610014N07Rik, Uchrp
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 120637099-120684299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120675161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 461 (R461W)
Ref Sequence ENSEMBL: ENSMUSP00000104616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108982] [ENSMUST00000108988] [ENSMUST00000127664] [ENSMUST00000144458]
AlphaFold P52479
Predicted Effect probably benign
Transcript: ENSMUST00000108982
AA Change: R25W

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826
AA Change: R25W

DomainStartEndE-ValueType
Pfam:UCH 9 113 1.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108988
AA Change: R461W

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: R461W

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 probably benign
Transcript: ENSMUST00000144458
AA Change: R462W

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: R462W

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: ENSMUST00000142432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148767
Meta Mutation Damage Score 0.4150 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging Het
Other mutations in Usp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02000:Usp10 APN 8 120,675,480 (GRCm39) missense possibly damaging 0.95
IGL02444:Usp10 APN 8 120,675,432 (GRCm39) missense possibly damaging 0.70
IGL02487:Usp10 APN 8 120,675,514 (GRCm39) missense probably damaging 1.00
IGL02526:Usp10 APN 8 120,675,514 (GRCm39) missense probably damaging 1.00
IGL02951:Usp10 APN 8 120,673,825 (GRCm39) missense probably benign 0.01
IGL03003:Usp10 APN 8 120,681,549 (GRCm39) missense possibly damaging 0.90
IGL03049:Usp10 APN 8 120,683,366 (GRCm39) missense probably benign 0.01
PIT4585001:Usp10 UTSW 8 120,681,631 (GRCm39) missense probably benign 0.02
R0090:Usp10 UTSW 8 120,679,935 (GRCm39) nonsense probably null
R0329:Usp10 UTSW 8 120,663,296 (GRCm39) nonsense probably null
R0550:Usp10 UTSW 8 120,674,540 (GRCm39) missense probably damaging 0.98
R2349:Usp10 UTSW 8 120,683,448 (GRCm39) makesense probably null
R4345:Usp10 UTSW 8 120,681,553 (GRCm39) missense probably damaging 1.00
R4782:Usp10 UTSW 8 120,667,930 (GRCm39) missense probably benign 0.03
R5182:Usp10 UTSW 8 120,683,420 (GRCm39) missense possibly damaging 0.95
R5184:Usp10 UTSW 8 120,683,420 (GRCm39) missense possibly damaging 0.95
R5461:Usp10 UTSW 8 120,683,406 (GRCm39) missense probably benign 0.44
R5749:Usp10 UTSW 8 120,667,872 (GRCm39) missense probably damaging 0.99
R5873:Usp10 UTSW 8 120,673,831 (GRCm39) missense possibly damaging 0.60
R5935:Usp10 UTSW 8 120,673,828 (GRCm39) missense possibly damaging 0.74
R6242:Usp10 UTSW 8 120,668,577 (GRCm39) missense probably benign 0.01
R6362:Usp10 UTSW 8 120,668,055 (GRCm39) missense probably benign 0.00
R6774:Usp10 UTSW 8 120,678,711 (GRCm39) missense probably benign
R7148:Usp10 UTSW 8 120,663,289 (GRCm39) missense possibly damaging 0.47
R7164:Usp10 UTSW 8 120,668,847 (GRCm39) missense probably damaging 1.00
R7238:Usp10 UTSW 8 120,668,283 (GRCm39) missense probably benign
R7310:Usp10 UTSW 8 120,668,344 (GRCm39) missense possibly damaging 0.89
R7792:Usp10 UTSW 8 120,678,740 (GRCm39) missense possibly damaging 0.54
R8552:Usp10 UTSW 8 120,683,367 (GRCm39) missense possibly damaging 0.81
R9020:Usp10 UTSW 8 120,667,904 (GRCm39) missense probably benign 0.30
R9380:Usp10 UTSW 8 120,682,943 (GRCm39) missense probably damaging 1.00
R9484:Usp10 UTSW 8 120,675,504 (GRCm39) missense possibly damaging 0.78
R9771:Usp10 UTSW 8 120,658,620 (GRCm39) frame shift probably null
R9772:Usp10 UTSW 8 120,658,620 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACCCCGTACTGTTTACCAGC -3'
(R):5'- TTTATCCCCGAGAGCTGCAAG -3'

Sequencing Primer
(F):5'- TACCAGCTTAAAATGCCATCTGG -3'
(R):5'- TTCTGGTAAGTAAAGAGACCACAG -3'
Posted On 2018-06-25