Incidental Mutation 'R1868:Usp28'
ID 208964
Institutional Source Beutler Lab
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Name ubiquitin specific peptidase 28
Synonyms 9830148O20Rik
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1868 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 48896675-48953817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48928007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 363 (V363A)
Ref Sequence ENSEMBL: ENSMUSP00000149207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215856]
AlphaFold Q5I043
Predicted Effect probably damaging
Transcript: ENSMUST00000047349
AA Change: V363A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: V363A

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 probably damaging
Transcript: ENSMUST00000213874
AA Change: V363A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215378
Predicted Effect probably benign
Transcript: ENSMUST00000215856
Meta Mutation Damage Score 0.6525 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
A630073D07Rik C T 6: 132,603,457 (GRCm39) E100K unknown Het
Abcc3 T G 11: 94,254,889 (GRCm39) D638A probably benign Het
Acadm T C 3: 153,635,889 (GRCm39) I272V probably benign Het
Adam2 G A 14: 66,315,107 (GRCm39) T22I probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,537,135 (GRCm39) I182K probably benign Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Brca1 T A 11: 101,388,839 (GRCm39) H1675L probably benign Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Btd G T 14: 31,389,266 (GRCm39) G329V probably benign Het
Capsl T A 15: 9,461,916 (GRCm39) L104* probably null Het
Cbx1 T C 11: 96,693,554 (GRCm39) S107P probably benign Het
Cd207 G T 6: 83,648,683 (GRCm39) Y326* probably null Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Chsy3 A G 18: 59,309,560 (GRCm39) probably null Het
Cntrl T A 2: 35,019,827 (GRCm39) H551Q probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cybrd1 T A 2: 70,967,978 (GRCm39) F183Y possibly damaging Het
D5Ertd579e G A 5: 36,773,771 (GRCm39) S208L probably damaging Het
Dlg2 A T 7: 92,036,160 (GRCm39) K719* probably null Het
Dppa1 A T 11: 46,516,393 (GRCm39) probably null Het
Dse A G 10: 34,029,284 (GRCm39) V602A possibly damaging Het
Elapor2 T A 5: 9,529,251 (GRCm39) I1028K probably damaging Het
Elmo1 C T 13: 20,773,823 (GRCm39) A611V possibly damaging Het
Ets2 T C 16: 95,516,118 (GRCm39) S233P probably benign Het
Fchsd2 G A 7: 100,899,645 (GRCm39) probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Fkbp4 T C 6: 128,409,453 (GRCm39) R402G probably benign Het
G2e3 T A 12: 51,400,412 (GRCm39) D21E probably benign Het
Gask1a A G 9: 121,794,493 (GRCm39) T216A possibly damaging Het
Gck A T 11: 5,852,165 (GRCm39) N391K probably damaging Het
Gm11077 T A 6: 140,675,017 (GRCm39) I3N unknown Het
Gm6793 T C 8: 112,741,088 (GRCm39) M185V probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hat1 T A 2: 71,251,627 (GRCm39) Y225* probably null Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Ido2 C A 8: 25,043,776 (GRCm39) M92I possibly damaging Het
Ifne T C 4: 88,797,908 (GRCm39) E170G probably damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Jakmip3 A G 7: 138,609,316 (GRCm39) K140R probably benign Het
Kcnip3 T C 2: 127,301,263 (GRCm39) E237G probably damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lars1 T A 18: 42,347,902 (GRCm39) I974F probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lhfpl4 T A 6: 113,153,394 (GRCm39) D125V probably benign Het
Luc7l G A 17: 26,499,030 (GRCm39) probably benign Het
Mei1 T C 15: 82,009,154 (GRCm39) L833P probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Muc4 C T 16: 32,576,715 (GRCm39) R2072C unknown Het
Myh3 A G 11: 66,975,852 (GRCm39) K295E probably benign Het
Ndufaf5 A G 2: 140,023,509 (GRCm39) I115V probably benign Het
Neb T C 2: 52,216,756 (GRCm39) K140E probably damaging Het
Niban1 A G 1: 151,517,302 (GRCm39) S104G possibly damaging Het
Npas2 A G 1: 39,339,759 (GRCm39) D103G probably benign Het
Ntrk3 A T 7: 77,842,352 (GRCm39) H825Q possibly damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Or4c108 T C 2: 88,804,128 (GRCm39) T36A possibly damaging Het
Or5g23 T A 2: 85,438,409 (GRCm39) I282F probably damaging Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or8c8 A G 9: 38,164,986 (GRCm39) E91G probably damaging Het
Orc4 A G 2: 48,800,305 (GRCm39) M281T probably benign Het
Osbpl5 C A 7: 143,269,510 (GRCm39) R22L probably damaging Het
Otos A G 1: 92,572,185 (GRCm39) F47S probably damaging Het
Parp11 A G 6: 127,447,740 (GRCm39) T25A probably damaging Het
Pcdhb9 A C 18: 37,535,137 (GRCm39) D377A probably damaging Het
Pdgfra C T 5: 75,331,534 (GRCm39) S348L probably benign Het
Pdlim5 C A 3: 142,012,060 (GRCm39) probably null Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Piezo2 T C 18: 63,152,415 (GRCm39) E2559G probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppa2 A T 3: 133,053,858 (GRCm39) I183F probably damaging Het
Pramel48 T A 5: 95,630,758 (GRCm39) Y212N probably benign Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rexo1 T C 10: 80,378,754 (GRCm39) D1094G probably damaging Het
Rtl1 T A 12: 109,556,970 (GRCm39) D1623V probably damaging Het
Ryr2 C T 13: 11,746,586 (GRCm39) E1989K probably benign Het
Sema6c A G 3: 95,078,124 (GRCm39) E500G probably damaging Het
Slc13a1 T A 6: 24,117,999 (GRCm39) Y246F probably damaging Het
Slc39a9 C T 12: 80,726,297 (GRCm39) L249F probably damaging Het
Slc6a21 C T 7: 44,937,252 (GRCm39) P261S probably benign Het
Slco2b1 C T 7: 99,335,243 (GRCm39) C179Y probably damaging Het
Sox6 T C 7: 115,258,773 (GRCm39) N252S possibly damaging Het
Spr-ps1 C T 6: 85,132,885 (GRCm39) noncoding transcript Het
Sptbn1 C A 11: 30,064,781 (GRCm39) R1906L possibly damaging Het
Stac2 T C 11: 97,943,771 (GRCm39) D13G probably benign Het
Stat5a G T 11: 100,764,955 (GRCm39) R226L probably damaging Het
Suz12 A G 11: 79,904,425 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,936 (GRCm39) H225Q probably benign Het
Tdo2 T A 3: 81,867,853 (GRCm39) M331L probably benign Het
Tesk1 T C 4: 43,447,201 (GRCm39) W530R probably damaging Het
Tlr6 T C 5: 65,112,172 (GRCm39) N245S probably benign Het
Tnfrsf11a G T 1: 105,772,431 (GRCm39) A573S probably damaging Het
Tpbpb A T 13: 61,050,344 (GRCm39) probably benign Het
Trim24 T A 6: 37,928,447 (GRCm39) S590T probably damaging Het
Ttll3 G T 6: 113,369,725 (GRCm39) A90S possibly damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Vcan A G 13: 89,838,990 (GRCm39) S2185P probably benign Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r3 G A 3: 64,166,537 (GRCm39) P865S probably damaging Het
Wapl A G 14: 34,414,415 (GRCm39) T426A probably benign Het
Wdr37 G T 13: 8,886,887 (GRCm39) T300K probably damaging Het
Wrap53 A T 11: 69,452,990 (GRCm39) V439E probably null Het
Wrn A G 8: 33,747,249 (GRCm39) S868P probably benign Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp189 T A 4: 49,529,283 (GRCm39) C129S possibly damaging Het
Zfp442 T C 2: 150,250,100 (GRCm39) K544E probably damaging Het
Zfp939 T A 7: 39,122,728 (GRCm39) noncoding transcript Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging 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
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
R5041:Usp28 UTSW 9 48,949,073 (GRCm39) missense probably benign
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'- GTTGAACGCAATGCTGGTGG -3'
(R):5'- TCACAGTACTCTGAAAGGTTCAC -3'

Sequencing Primer
(F):5'- CGCAATGCTGGTGGTAAATG -3'
(R):5'- GTACTCTGAAAGGTTCACACAATTG -3'
Posted On 2014-06-30