Incidental Mutation 'R5041:Usp28'
ID 393219
Institutional Source Beutler Lab
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Name ubiquitin specific peptidase 28
Synonyms 9830148O20Rik
MMRRC Submission 042631-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5041 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 48896675-48953817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48949073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 864 (Q864R)
Ref Sequence ENSEMBL: ENSMUSP00000149207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215856]
AlphaFold Q5I043
Predicted Effect probably benign
Transcript: ENSMUST00000047349
AA Change: Q889R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: Q889R

DomainStartEndE-ValueType
UIM 97 116 3.1e-3 SMART
Pfam:UCH 161 652 5.4e-52 PFAM
Pfam:UCH_1 162 626 2e-11 PFAM
low complexity region 695 705 N/A INTRINSIC
low complexity region 713 730 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213457
Predicted Effect probably benign
Transcript: ENSMUST00000213874
AA Change: Q864R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215118
Predicted Effect probably benign
Transcript: ENSMUST00000215856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216657
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit slightly decreased spleen weight and splenocyte number but show neither major signaling defects in DNA damage response nor developmental defects indicative of impaired double-strand break metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,550,711 (GRCm39) F667S probably benign Het
Akna A G 4: 63,305,381 (GRCm39) Y462H possibly damaging Het
Anxa11 G T 14: 25,875,188 (GRCm39) E278* probably null Het
Ap3s2 T C 7: 79,570,267 (GRCm39) Y20C probably benign Het
Atxn7 T C 14: 14,096,317 (GRCm38) probably null Het
AW551984 T C 9: 39,511,894 (GRCm39) Y39C probably damaging Het
Becn1 A T 11: 101,179,662 (GRCm39) S442T probably benign Het
Bhlhe40 C T 6: 108,639,546 (GRCm39) T108I probably damaging Het
Cnst A G 1: 179,432,593 (GRCm39) D252G probably damaging Het
Cpxm1 A G 2: 130,235,990 (GRCm39) S391P probably damaging Het
Ctnna2 T A 6: 76,892,746 (GRCm39) N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 (GRCm39) Y282F probably benign Het
Ddx56 A G 11: 6,214,178 (GRCm39) V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 (GRCm39) C534W probably damaging Het
Gimap8 A G 6: 48,636,097 (GRCm39) N621D probably damaging Het
Herc1 T A 9: 66,336,327 (GRCm39) I1624N possibly damaging Het
Htr7 A C 19: 36,034,467 (GRCm39) W63G probably benign Het
Ly6g6c T A 17: 35,284,428 (GRCm39) probably null Het
Macf1 T C 4: 123,290,839 (GRCm39) probably null Het
Mfrp A G 9: 44,013,575 (GRCm39) D62G probably damaging Het
Ncam1 T C 9: 49,478,085 (GRCm39) Y173C probably damaging Het
Nwd1 T C 8: 73,431,683 (GRCm39) V1185A possibly damaging Het
Or4c113 A T 2: 88,885,265 (GRCm39) C168* probably null Het
Or51h7 T C 7: 102,591,785 (GRCm39) probably null Het
Pcf11 G A 7: 92,307,613 (GRCm39) P852S probably benign Het
Pramel25 T C 4: 143,520,260 (GRCm39) V4A probably benign Het
Ralgapa2 T C 2: 146,327,071 (GRCm39) I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Rubcnl T C 14: 75,287,572 (GRCm39) F619L probably damaging Het
Sec24d A T 3: 123,087,880 (GRCm39) Q247L probably damaging Het
Spmap2l A G 5: 77,203,928 (GRCm39) T319A probably benign Het
Spns3 G T 11: 72,427,373 (GRCm39) Q306K possibly damaging Het
Sstr1 T C 12: 58,259,941 (GRCm39) V188A possibly damaging Het
Supt5 A T 7: 28,014,805 (GRCm39) L1024Q probably damaging Het
Tent4b CCCAACAACGCCAACAA CCCAACAA 8: 88,981,878 (GRCm39) probably benign Het
Unc13b T A 4: 43,237,836 (GRCm39) H3452Q probably benign Het
Vmn2r43 T C 7: 8,247,806 (GRCm39) T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,759,557 (GRCm39) probably benign Het
Other mutations in Usp28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Usp28 APN 9 48,939,463 (GRCm39) missense probably benign 0.01
IGL01105:Usp28 APN 9 48,921,550 (GRCm39) missense probably damaging 1.00
IGL01124:Usp28 APN 9 48,948,513 (GRCm39) missense probably damaging 1.00
IGL01304:Usp28 APN 9 48,938,119 (GRCm39) missense probably damaging 0.99
IGL01527:Usp28 APN 9 48,937,173 (GRCm39) missense probably benign 0.02
IGL01859:Usp28 APN 9 48,935,321 (GRCm39) nonsense probably null
IGL01860:Usp28 APN 9 48,943,543 (GRCm39) nonsense probably null
IGL02047:Usp28 APN 9 48,946,941 (GRCm39) missense probably damaging 0.99
IGL02188:Usp28 APN 9 48,935,309 (GRCm39) missense probably benign 0.00
IGL02267:Usp28 APN 9 48,935,265 (GRCm39) missense probably damaging 1.00
IGL02472:Usp28 APN 9 48,949,069 (GRCm39) missense possibly damaging 0.95
IGL02675:Usp28 APN 9 48,950,391 (GRCm39) missense possibly damaging 0.81
IGL02982:Usp28 APN 9 48,929,739 (GRCm39) missense probably benign 0.00
IGL03105:Usp28 APN 9 48,950,355 (GRCm39) missense probably damaging 0.99
R0100:Usp28 UTSW 9 48,947,232 (GRCm39) missense probably damaging 1.00
R0114:Usp28 UTSW 9 48,950,323 (GRCm39) missense probably benign 0.00
R0196:Usp28 UTSW 9 48,939,578 (GRCm39) missense probably damaging 0.96
R0206:Usp28 UTSW 9 48,939,569 (GRCm39) missense probably damaging 1.00
R0349:Usp28 UTSW 9 48,921,581 (GRCm39) nonsense probably null
R0379:Usp28 UTSW 9 48,935,367 (GRCm39) missense possibly damaging 0.58
R0454:Usp28 UTSW 9 48,950,401 (GRCm39) missense possibly damaging 0.94
R0479:Usp28 UTSW 9 48,948,513 (GRCm39) missense probably damaging 1.00
R0540:Usp28 UTSW 9 48,935,360 (GRCm39) missense probably benign
R0726:Usp28 UTSW 9 48,915,169 (GRCm39) missense probably damaging 1.00
R0835:Usp28 UTSW 9 48,912,824 (GRCm39) missense probably damaging 1.00
R0928:Usp28 UTSW 9 48,942,191 (GRCm39) missense possibly damaging 0.60
R1271:Usp28 UTSW 9 48,947,261 (GRCm39) critical splice donor site probably null
R1534:Usp28 UTSW 9 48,896,806 (GRCm39) missense possibly damaging 0.92
R1539:Usp28 UTSW 9 48,949,096 (GRCm39) missense probably benign 0.07
R1687:Usp28 UTSW 9 48,935,317 (GRCm39) missense probably benign 0.00
R1867:Usp28 UTSW 9 48,920,494 (GRCm39) missense probably benign 0.00
R1868:Usp28 UTSW 9 48,928,007 (GRCm39) missense probably damaging 1.00
R1884:Usp28 UTSW 9 48,947,247 (GRCm39) missense probably damaging 1.00
R2029:Usp28 UTSW 9 48,896,803 (GRCm39) missense probably benign 0.22
R2046:Usp28 UTSW 9 48,950,375 (GRCm39) missense probably damaging 1.00
R2379:Usp28 UTSW 9 48,914,395 (GRCm39) missense probably null 0.94
R2404:Usp28 UTSW 9 48,948,558 (GRCm39) critical splice donor site probably null
R3196:Usp28 UTSW 9 48,937,125 (GRCm39) missense probably benign 0.03
R3831:Usp28 UTSW 9 48,946,938 (GRCm39) missense probably benign 0.00
R3922:Usp28 UTSW 9 48,942,223 (GRCm39) critical splice donor site probably null
R3924:Usp28 UTSW 9 48,942,223 (GRCm39) critical splice donor site probably null
R3926:Usp28 UTSW 9 48,942,223 (GRCm39) critical splice donor site probably null
R3943:Usp28 UTSW 9 48,911,666 (GRCm39) missense probably benign 0.12
R4834:Usp28 UTSW 9 48,912,836 (GRCm39) missense probably damaging 1.00
R5186:Usp28 UTSW 9 48,921,550 (GRCm39) missense probably damaging 1.00
R5308:Usp28 UTSW 9 48,948,501 (GRCm39) missense probably damaging 1.00
R5870:Usp28 UTSW 9 48,937,285 (GRCm39) nonsense probably null
R6838:Usp28 UTSW 9 48,911,730 (GRCm39) critical splice donor site probably null
R6959:Usp28 UTSW 9 48,912,842 (GRCm39) missense probably damaging 1.00
R7058:Usp28 UTSW 9 48,950,456 (GRCm39) missense probably damaging 1.00
R7348:Usp28 UTSW 9 48,942,177 (GRCm39) missense probably benign 0.19
R7766:Usp28 UTSW 9 48,947,183 (GRCm39) missense probably damaging 1.00
R7814:Usp28 UTSW 9 48,915,218 (GRCm39) missense probably benign 0.01
R7828:Usp28 UTSW 9 48,915,202 (GRCm39) missense possibly damaging 0.95
R8167:Usp28 UTSW 9 48,949,148 (GRCm39) missense probably damaging 0.99
R8226:Usp28 UTSW 9 48,926,697 (GRCm39) splice site probably null
R8273:Usp28 UTSW 9 48,938,182 (GRCm39) missense probably damaging 1.00
R8972:Usp28 UTSW 9 48,949,124 (GRCm39) missense probably null 0.83
R8998:Usp28 UTSW 9 48,949,139 (GRCm39) missense probably benign
R9312:Usp28 UTSW 9 48,926,439 (GRCm39) nonsense probably null
R9483:Usp28 UTSW 9 48,947,037 (GRCm39) missense probably damaging 1.00
R9488:Usp28 UTSW 9 48,935,288 (GRCm39) missense probably damaging 0.97
R9524:Usp28 UTSW 9 48,947,026 (GRCm39) missense probably damaging 1.00
R9555:Usp28 UTSW 9 48,952,736 (GRCm39) missense probably damaging 0.98
Z1176:Usp28 UTSW 9 48,947,225 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTTGCTCCGAGTGCAAAAC -3'
(R):5'- AGGCTGGCTCAACTTATCAAG -3'

Sequencing Primer
(F):5'- CAAAACAGCTGAGTCTGGCTGTG -3'
(R):5'- CTGGCTCAACTTATCAAGGGTTG -3'
Posted On 2016-06-15