Incidental Mutation 'R0628:Usp3'
ID 57705
Institutional Source Beutler Lab
Gene Symbol Usp3
Ensembl Gene ENSMUSG00000032376
Gene Name ubiquitin specific peptidase 3
Synonyms
MMRRC Submission 038817-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R0628 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 66421919-66500424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66425726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 467 (R467H)
Ref Sequence ENSEMBL: ENSMUSP00000134472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056890] [ENSMUST00000098613] [ENSMUST00000127569] [ENSMUST00000139547] [ENSMUST00000174387]
AlphaFold Q91W36
Predicted Effect noncoding transcript
Transcript: ENSMUST00000034940
Predicted Effect probably benign
Transcript: ENSMUST00000056890
SMART Domains Protein: ENSMUSP00000060137
Gene: ENSMUSG00000050503

DomainStartEndE-ValueType
FBOX 6 46 4.46e-2 SMART
LRR 113 138 1.89e-1 SMART
LRR 139 164 3.44e-4 SMART
LRR 165 190 1.66e2 SMART
low complexity region 216 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098613
AA Change: R473H

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: R473H

DomainStartEndE-ValueType
Pfam:zf-UBP 29 107 6.6e-23 PFAM
low complexity region 135 150 N/A INTRINSIC
Pfam:UCH 158 188 1.1e-8 PFAM
Pfam:UCH 178 470 4.2e-54 PFAM
Pfam:UCH_1 193 452 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127569
AA Change: R511H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: R511H

DomainStartEndE-ValueType
Pfam:zf-UBP 29 107 1.2e-22 PFAM
low complexity region 135 150 N/A INTRINSIC
Pfam:UCH 158 508 2.5e-61 PFAM
Pfam:UCH_1 206 490 2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132255
Predicted Effect probably benign
Transcript: ENSMUST00000139547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150840
Predicted Effect probably benign
Transcript: ENSMUST00000174387
AA Change: R467H

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: R467H

DomainStartEndE-ValueType
Pfam:zf-UBP 29 142 1.6e-7 PFAM
Pfam:UCH 114 464 9.9e-69 PFAM
Pfam:UCH_1 115 446 2e-26 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: The protein encoded by this gene is a chromatin-associated histone 2A and 2B deubiquitinating enzyme that negatively regulates the DNA damage response. Mice deficient for this enzyme have reduced hematopoietic stem cell reserves, demonstrating a requirement in hematopoietic stem cell homeostasis. In addition, knock down of protein levels results in spontaneous tumor development and shortened lifespan, consistent with a function in preserving chromosomal integrity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A C 18: 65,440,367 (GRCm39) V809G possibly damaging Het
Bank1 T A 3: 135,772,151 (GRCm39) D493V probably damaging Het
Camk2d T C 3: 126,604,273 (GRCm39) probably benign Het
Ccdc17 T A 4: 116,455,745 (GRCm39) L292H probably damaging Het
Ccdc7b A G 8: 129,837,498 (GRCm39) probably benign Het
Cd34 C A 1: 194,641,525 (GRCm39) T317K probably damaging Het
Col6a5 C G 9: 105,789,649 (GRCm39) probably null Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Copa T C 1: 171,918,592 (GRCm39) probably benign Het
Coq7 T C 7: 118,128,867 (GRCm39) D56G probably damaging Het
Dlg4 C T 11: 69,922,610 (GRCm39) T201I probably damaging Het
Dnah7a T A 1: 53,536,264 (GRCm39) D2593V probably benign Het
Ect2l T A 10: 18,018,788 (GRCm39) E536V probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eml2 T C 7: 18,935,479 (GRCm39) probably benign Het
Fam135b C T 15: 71,320,505 (GRCm39) probably benign Het
Fhip2b T C 14: 70,825,161 (GRCm39) T392A possibly damaging Het
Gart C T 16: 91,430,790 (GRCm39) R424H probably benign Het
Gramd1a A G 7: 30,842,049 (GRCm39) L80P probably damaging Het
Herc1 A G 9: 66,358,163 (GRCm39) K2415E probably benign Het
Ica1 C T 6: 8,644,256 (GRCm39) probably benign Het
Idi2l T A 13: 8,990,958 (GRCm39) probably benign Het
Iyd A T 10: 3,497,127 (GRCm39) M161L probably damaging Het
Kdm5a T C 6: 120,392,200 (GRCm39) L974S probably damaging Het
Kif1a T C 1: 92,947,605 (GRCm39) D1619G probably damaging Het
Lypd8 C T 11: 58,275,499 (GRCm39) T78M probably damaging Het
Marchf10 T A 11: 105,280,986 (GRCm39) H433L probably benign Het
Mbp A G 18: 82,572,742 (GRCm39) Y13C probably damaging Het
Mertk A T 2: 128,580,233 (GRCm39) N229I probably damaging Het
Msrb2 T A 2: 19,398,091 (GRCm39) D116E probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Otoa G A 7: 120,744,873 (GRCm39) probably benign Het
Pclo A G 5: 14,719,552 (GRCm39) T1230A unknown Het
Polrmt T C 10: 79,574,979 (GRCm39) T851A possibly damaging Het
Prpf6 C T 2: 181,277,841 (GRCm39) P401L probably damaging Het
Rasgrp4 A G 7: 28,839,635 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,272,064 (GRCm39) probably benign Het
Reps1 A G 10: 17,996,841 (GRCm39) T588A probably damaging Het
Rtel1 A C 2: 180,993,674 (GRCm39) S782R probably benign Het
Sacm1l A G 9: 123,378,060 (GRCm39) probably benign Het
Skic3 G C 13: 76,298,848 (GRCm39) V1185L possibly damaging Het
Skint5 A T 4: 113,588,266 (GRCm39) L728* probably null Het
Slc9b2 T A 3: 135,029,536 (GRCm39) probably benign Het
Snapc3 A T 4: 83,368,397 (GRCm39) H298L probably benign Het
Tex9 A T 9: 72,399,233 (GRCm39) M1K probably null Het
Trappc13 C T 13: 104,291,424 (GRCm39) probably benign Het
Vmn2r11 T A 5: 109,195,597 (GRCm39) L576F possibly damaging Het
Wnk4 T C 11: 101,165,849 (GRCm39) F792S probably benign Het
Zfp1007 T C 5: 109,826,442 (GRCm39) probably null Het
Zfp280d T C 9: 72,269,230 (GRCm39) V764A probably benign Het
Zfp69 G A 4: 120,806,622 (GRCm39) Q4* probably null Het
Zfp692 T G 11: 58,200,449 (GRCm39) L206R probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zic4 T A 9: 91,266,170 (GRCm39) Y264* probably null Het
Zic4 T A 9: 91,266,172 (GRCm39) M272K probably benign Het
Zscan4b A T 7: 10,635,390 (GRCm39) N284K probably damaging Het
Other mutations in Usp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Usp3 APN 9 66,469,834 (GRCm39) critical splice donor site probably null
IGL02951:Usp3 APN 9 66,449,832 (GRCm39) nonsense probably null
IGL03283:Usp3 APN 9 66,469,831 (GRCm39) splice site probably null
R0148:Usp3 UTSW 9 66,447,449 (GRCm39) missense possibly damaging 0.80
R0152:Usp3 UTSW 9 66,447,432 (GRCm39) missense probably damaging 0.97
R0184:Usp3 UTSW 9 66,469,863 (GRCm39) missense probably damaging 0.99
R1036:Usp3 UTSW 9 66,437,513 (GRCm39) splice site probably benign
R2251:Usp3 UTSW 9 66,469,860 (GRCm39) missense probably damaging 0.99
R2437:Usp3 UTSW 9 66,453,024 (GRCm39) critical splice donor site probably null
R3957:Usp3 UTSW 9 66,469,873 (GRCm39) missense probably benign 0.04
R4320:Usp3 UTSW 9 66,437,530 (GRCm39) missense possibly damaging 0.80
R4439:Usp3 UTSW 9 66,425,776 (GRCm39) missense probably benign 0.00
R4562:Usp3 UTSW 9 66,428,047 (GRCm39) intron probably benign
R4659:Usp3 UTSW 9 66,434,352 (GRCm39) splice site probably null
R4742:Usp3 UTSW 9 66,427,959 (GRCm39) missense probably damaging 1.00
R5134:Usp3 UTSW 9 66,449,814 (GRCm39) missense possibly damaging 0.82
R5242:Usp3 UTSW 9 66,434,432 (GRCm39) missense probably damaging 1.00
R5556:Usp3 UTSW 9 66,451,303 (GRCm39) missense possibly damaging 0.88
R6949:Usp3 UTSW 9 66,427,972 (GRCm39) missense probably benign 0.37
R7440:Usp3 UTSW 9 66,437,537 (GRCm39) missense probably benign 0.03
R7452:Usp3 UTSW 9 66,474,180 (GRCm39) missense probably benign 0.11
R7547:Usp3 UTSW 9 66,449,906 (GRCm39) missense possibly damaging 0.46
R9250:Usp3 UTSW 9 66,449,793 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCTCATGTTGGGTAAGTCACTACCAC -3'
(R):5'- AAGCATGTCCACAGCTCCCTAGCTTC -3'

Sequencing Primer
(F):5'- GGGTAAGTCACTACCACTGACC -3'
(R):5'- ggctgccctcaaactcac -3'
Posted On 2013-07-11