Incidental Mutation 'R7148:Usp10'
ID 553954
Institutional Source Beutler Lab
Gene Symbol Usp10
Ensembl Gene ENSMUSG00000031826
Gene Name ubiquitin specific peptidase 10
Synonyms 2610014N07Rik, Uchrp
MMRRC Submission 045225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7148 (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 120663289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 37 (T37I)
Ref Sequence ENSEMBL: ENSMUSP00000123590 (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 probably benign
Transcript: ENSMUST00000108988
AA Change: T37I

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104616
Gene: ENSMUSG00000031826
AA Change: T37I

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 possibly damaging
Transcript: ENSMUST00000144458
AA Change: T37I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123590
Gene: ENSMUSG00000031826
AA Change: T37I

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: 99.9%
  • 10x: 99.7%
  • 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T A 14: 32,110,269 (GRCm39) Y14F probably damaging Het
Acly A G 11: 100,374,608 (GRCm39) V805A possibly damaging Het
Apcdd1 T C 18: 63,084,916 (GRCm39) V371A probably damaging Het
Cacna1g A T 11: 94,356,756 (GRCm39) F127I probably benign Het
Ccdc138 T C 10: 58,374,102 (GRCm39) L374P probably damaging Het
Ces2b A G 8: 105,564,928 (GRCm39) Y504C probably damaging Het
Ces5a C T 8: 94,228,950 (GRCm39) G427S probably damaging Het
Chd1l C T 3: 97,498,632 (GRCm39) V256M probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Dmbt1 T A 7: 130,668,464 (GRCm39) C573* probably null Het
Emcn A T 3: 137,122,855 (GRCm39) Y188F possibly damaging Het
Eva1a T G 6: 82,048,125 (GRCm39) M1R probably null Het
Fam243 T C 16: 92,117,875 (GRCm39) K138E probably benign Het
Fam83h C A 15: 75,877,016 (GRCm39) D194Y probably damaging Het
Flywch1 T C 17: 23,974,649 (GRCm39) K664E probably benign Het
Fzd9 A G 5: 135,278,544 (GRCm39) V447A probably benign Het
Heatr5b T C 17: 79,138,863 (GRCm39) D93G probably damaging Het
Hmcn1 T C 1: 150,562,605 (GRCm39) I2318V probably benign Het
Hyal5 T A 6: 24,876,901 (GRCm39) L258Q probably damaging Het
Itprid1 T C 6: 55,874,671 (GRCm39) I207T probably damaging Het
Kmo T A 1: 175,479,168 (GRCm39) C235S probably damaging Het
Lamc2 G A 1: 153,061,730 (GRCm39) P2S probably benign Het
Lman2 G A 13: 55,500,762 (GRCm39) P146S probably benign Het
Mars2 T C 1: 55,276,673 (GRCm39) I92T probably damaging Het
Msh3 A G 13: 92,491,330 (GRCm39) F27L probably benign Het
Myom2 T C 8: 15,134,577 (GRCm39) V460A possibly damaging Het
Nicn1 T A 9: 108,172,306 (GRCm39) *214R probably null Het
Nsd2 T C 5: 34,042,855 (GRCm39) F1040L possibly damaging Het
Or1ab2 T A 8: 72,864,001 (GRCm39) I197N possibly damaging Het
Osm T A 11: 4,189,936 (GRCm39) I240N probably benign Het
Pard3b T A 1: 62,479,191 (GRCm39) D884E probably benign Het
Pex5 T G 6: 124,382,231 (GRCm39) D150A probably benign Het
Pfkfb4 T C 9: 108,856,676 (GRCm39) V394A probably damaging Het
Pjvk A G 2: 76,488,831 (GRCm39) K334R possibly damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Prpf4b T G 13: 35,078,455 (GRCm39) N688K probably benign Het
R3hcc1 T C 14: 69,943,001 (GRCm39) E192G possibly damaging Het
Rad54l2 C A 9: 106,596,318 (GRCm39) G207* probably null Het
Rhobtb3 G T 13: 76,059,006 (GRCm39) T264K probably benign Het
Rpl27 A G 11: 101,333,232 (GRCm39) probably benign Het
Rxfp3 C T 15: 11,036,863 (GRCm39) V170I possibly damaging Het
Samd4 T A 14: 47,254,140 (GRCm39) S201R probably benign Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Semp2l2a T A 8: 13,887,996 (GRCm39) I32L probably benign Het
Sirpb1c A T 3: 15,887,223 (GRCm39) Y205* probably null Het
Smc3 A T 19: 53,630,326 (GRCm39) E1111V possibly damaging Het
Sowaha C A 11: 53,370,182 (GRCm39) V185L probably benign Het
Spata4 A C 8: 55,055,585 (GRCm39) I159L probably benign Het
Spring1 A G 5: 118,393,759 (GRCm39) N46D probably benign Het
Tekt2 A G 4: 126,216,174 (GRCm39) I373T probably benign Het
Tle7 G T 8: 110,836,048 (GRCm39) R119I probably benign Het
Tomm20l T C 12: 71,164,313 (GRCm39) V65A probably benign Het
Trabd2b A G 4: 114,266,547 (GRCm39) D187G probably damaging Het
Trrap A G 5: 144,758,613 (GRCm39) I2147V possibly damaging Het
Tsc22d2 T A 3: 58,324,429 (GRCm39) C440* probably null Het
Ube3b A C 5: 114,544,313 (GRCm39) N570T probably damaging Het
Uevld A G 7: 46,600,724 (GRCm39) I70T probably damaging Het
Vmn2r23 T A 6: 123,689,981 (GRCm39) F286I probably benign Het
Vmn2r62 A G 7: 42,414,640 (GRCm39) V601A probably benign Het
Wdr81 G C 11: 75,336,828 (GRCm39) N401K Het
Ythdc2 G T 18: 44,966,189 (GRCm39) V142F probably benign Het
Zfp346 T C 13: 55,253,263 (GRCm39) F36S possibly damaging Het
Zfp748 C T 13: 67,690,358 (GRCm39) V301M possibly damaging Het
Zim1 T C 7: 6,681,220 (GRCm39) K148E possibly 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
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'- TTCAGATTGGGGCGAATCTG -3'
(R):5'- TGAGCCTGCTAACCTACAAAG -3'

Sequencing Primer
(F):5'- CGAATCTGTGTCTTCCTGGGAAC -3'
(R):5'- TGCATAAGCCCGATGACCTCTG -3'
Posted On 2019-05-15