Incidental Mutation 'R8552:Usp10'
ID 659910
Institutional Source Beutler Lab
Gene Symbol Usp10
Ensembl Gene ENSMUSG00000031826
Gene Name ubiquitin specific peptidase 10
Synonyms 2610014N07Rik, Uchrp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 120637099-120684299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120683367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 746 (T746M)
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
SMART Domains Protein: ENSMUSP00000104610
Gene: ENSMUSG00000031826

DomainStartEndE-ValueType
Pfam:UCH 9 113 1.6e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108988
AA Change: T746M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: T746M

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 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
SMART Domains Protein: ENSMUSP00000134182
Gene: ENSMUSG00000031826
AA Change: R61W

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144458
AA Change: T747M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: T747M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,646,210 (GRCm39) H242R possibly damaging Het
Adam1b G T 5: 121,639,504 (GRCm39) R514S probably benign Het
Adprs A G 4: 126,210,368 (GRCm39) *371Q probably null Het
Arid4a T C 12: 71,106,849 (GRCm39) L307P probably benign Het
Armc12 C T 17: 28,757,675 (GRCm39) A269V probably benign Het
Asb1 T A 1: 91,480,078 (GRCm39) V259E probably damaging Het
Atm T C 9: 53,435,797 (GRCm39) Y171C probably damaging Het
Atp8a2 A T 14: 60,011,431 (GRCm39) F959L probably benign Het
B4galt3 G T 1: 171,101,917 (GRCm39) E34D possibly damaging Het
Cacna1i A G 15: 80,204,598 (GRCm39) N90S possibly damaging Het
Cdc42ep2 T A 19: 5,968,060 (GRCm39) *215L probably null Het
Cep162 C T 9: 87,126,361 (GRCm39) E184K probably benign Het
Cnga3 C T 1: 37,284,060 (GRCm39) P121L probably benign Het
Cpt1b G A 15: 89,306,524 (GRCm39) R285C probably damaging Het
Defb18 T C 1: 18,306,791 (GRCm39) Y55C probably damaging Het
Depdc1b C T 13: 108,493,959 (GRCm39) P116S probably damaging Het
Dhx16 C T 17: 36,192,183 (GRCm39) A74V possibly damaging Het
Dnajc21 A T 15: 10,464,005 (GRCm39) Y53* probably null Het
Dse T C 10: 34,028,316 (GRCm39) R925G possibly damaging Het
Dsp C T 13: 38,369,117 (GRCm39) L738F probably damaging Het
Erv3 T C 2: 131,698,261 (GRCm39) K33E possibly damaging Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gdf9 T C 11: 53,324,378 (GRCm39) L49S possibly damaging Het
Gigyf1 G T 5: 137,521,401 (GRCm39) probably benign Het
Gm4792 T A 10: 94,131,061 (GRCm39) I83L unknown Het
Ighv9-3 A G 12: 114,104,349 (GRCm39) L105P probably damaging Het
Krtap5-1 C A 7: 141,850,160 (GRCm39) W189L probably null Het
Krtap5-3 T A 7: 141,756,089 (GRCm39) probably benign Het
Lrp1b T A 2: 41,298,993 (GRCm39) E108D probably benign Het
Lrrc66 G A 5: 73,768,228 (GRCm39) P238S probably benign Het
Ms4a4c C T 19: 11,392,196 (GRCm39) Q6* probably null Het
Or5b97 A G 19: 12,879,096 (GRCm39) L16P probably damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pinx1 A G 14: 64,156,972 (GRCm39) R300G probably benign Het
Pkd1 T A 17: 24,810,443 (GRCm39) H92Q probably damaging Het
Rad54l2 T A 9: 106,570,777 (GRCm39) Q1181L possibly damaging Het
Rbl1 A T 2: 157,038,174 (GRCm39) V131E probably damaging Het
Rbp3 A G 14: 33,677,621 (GRCm39) E523G probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Slc22a20 C A 19: 6,035,698 (GRCm39) C130F probably damaging Het
Smcr8 T C 11: 60,670,979 (GRCm39) L709S probably damaging Het
Spef2 A G 15: 9,600,765 (GRCm39) probably benign Het
Teddm1b T A 1: 153,750,194 (GRCm39) M1K probably null Het
Tes A G 6: 17,097,327 (GRCm39) Y60C probably damaging Het
Tmem104 T C 11: 115,088,144 (GRCm39) L43P probably damaging Het
Tnfaip3 T C 10: 18,880,213 (GRCm39) E618G probably damaging Het
Tnfaip3 T C 10: 18,880,414 (GRCm39) D551G probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trim30b T A 7: 104,015,236 (GRCm39) T51S probably benign Het
Trmt44 G T 5: 35,722,744 (GRCm39) H441Q probably benign Het
Tshr C A 12: 91,504,059 (GRCm39) D332E probably benign Het
Vmn1r8 A T 6: 57,013,138 (GRCm39) D63V possibly damaging Het
Vps13a A C 19: 16,731,684 (GRCm39) L143V probably damaging Het
Wnt3a T A 11: 59,166,043 (GRCm39) H79L probably damaging Het
Zbtb7a C T 10: 80,980,141 (GRCm39) R112W 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
R6608:Usp10 UTSW 8 120,675,161 (GRCm39) missense probably benign 0.06
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
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'- TGTCCACCTGAGTCAGTAGC -3'
(R):5'- TCTACAGAGCCACTAGAGAGG -3'

Sequencing Primer
(F):5'- ACCTGAGTCAGTAGCCTGCAG -3'
(R):5'- CTGTAGGAAGCAGCGTCAG -3'
Posted On 2021-01-18