Incidental Mutation 'R2046:Usp28'
ID 221975
Institutional Source Beutler Lab
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Name ubiquitin specific peptidase 28
Synonyms 9830148O20Rik
MMRRC Submission 040053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2046 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 48896675-48953817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48950375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 935 (C935S)
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: C960S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: C960S

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 damaging
Transcript: ENSMUST00000213874
AA Change: C935S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215856
AA Change: C607S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216657
Meta Mutation Damage Score 0.8765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,553 (GRCm39) D84V probably damaging Het
Abcc5 A T 16: 20,218,567 (GRCm39) S272T possibly damaging Het
Adgre4 A G 17: 56,085,847 (GRCm39) N49D possibly damaging Het
Ap2b1 A T 11: 83,227,212 (GRCm39) Y328F probably benign Het
Arhgef33 G C 17: 80,680,895 (GRCm39) E678D probably benign Het
Arid2 G A 15: 96,267,268 (GRCm39) V583I probably damaging Het
Bdkrb1 T A 12: 105,570,985 (GRCm39) S184T probably benign Het
Bend3 T C 10: 43,387,842 (GRCm39) F745S probably damaging Het
Card10 A T 15: 78,671,673 (GRCm39) V597E possibly damaging Het
Casp3 T A 8: 47,082,761 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,316,629 (GRCm39) V340A probably benign Het
Cdkl3 G T 11: 51,917,677 (GRCm39) V325L probably benign Het
Clec4n T A 6: 123,223,463 (GRCm39) N153K probably benign Het
Crtac1 C T 19: 42,322,492 (GRCm39) V83I probably damaging Het
Cul9 C A 17: 46,854,659 (GRCm39) L14F probably damaging Het
Dgka T C 10: 128,559,404 (GRCm39) Y519C probably damaging Het
Dhrs7 T G 12: 72,699,040 (GRCm39) K314T possibly damaging Het
Dnaaf9 T A 2: 130,652,837 (GRCm39) I42L possibly damaging Het
Dnah10 G T 5: 124,873,405 (GRCm39) K2542N probably benign Het
Dock5 A T 14: 68,049,591 (GRCm39) V731E probably benign Het
Dpy19l1 T A 9: 24,334,455 (GRCm39) H571L probably damaging Het
Dzip1 A T 14: 119,159,890 (GRCm39) I106N probably damaging Het
Eif2ak4 A T 2: 118,281,889 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,799 (GRCm39) Y70C probably damaging Het
Eps15 T C 4: 109,227,793 (GRCm39) F344S probably damaging Het
Erbb4 C T 1: 68,337,482 (GRCm39) R612Q probably benign Het
Fam83h T C 15: 75,874,787 (GRCm39) H850R probably benign Het
Fancg A G 4: 43,004,604 (GRCm39) C484R probably damaging Het
Fzd9 A G 5: 135,278,538 (GRCm39) I449T probably damaging Het
Gm10647 A G 9: 66,705,519 (GRCm39) probably benign Het
Iigp1c T A 18: 60,378,571 (GRCm39) H35Q probably benign Het
Itga11 C T 9: 62,634,979 (GRCm39) L86F probably damaging Het
Lamc2 C T 1: 153,017,511 (GRCm39) R492H probably benign Het
Marchf6 A G 15: 31,486,580 (GRCm39) V325A probably benign Het
Myo5b A T 18: 74,710,526 (GRCm39) I47F probably benign Het
Nek9 T A 12: 85,367,481 (GRCm39) probably benign Het
Nelfb T A 2: 25,096,323 (GRCm39) N262I probably damaging Het
Neurl4 A G 11: 69,799,523 (GRCm39) D942G probably damaging Het
Nipbl G A 15: 8,353,951 (GRCm39) P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 (GRCm39) T468A possibly damaging Het
Nrm G A 17: 36,175,109 (GRCm39) V146I probably benign Het
Or8h9 C A 2: 86,789,077 (GRCm39) A242S possibly damaging Het
Pitx3 T C 19: 46,125,618 (GRCm39) E42G possibly damaging Het
Pkd1l2 C T 8: 117,726,694 (GRCm39) A2271T probably damaging Het
Pofut2 A G 10: 77,096,428 (GRCm39) N51S probably damaging Het
Ppp1r3a T C 6: 14,722,103 (GRCm39) E273G probably benign Het
Psme4 A G 11: 30,767,723 (GRCm39) probably benign Het
Pus7l T C 15: 94,438,666 (GRCm39) I60V probably benign Het
Pygo2 T A 3: 89,340,455 (GRCm39) N284K possibly damaging Het
Ralgapa1 C T 12: 55,741,945 (GRCm39) C1368Y probably damaging Het
Rbm45 G A 2: 76,205,742 (GRCm39) G198E probably benign Het
Reln T C 5: 22,147,625 (GRCm39) I2442V probably benign Het
Rmi1 T C 13: 58,555,772 (GRCm39) V7A probably benign Het
Rsf1 T C 7: 97,310,884 (GRCm39) L538P probably benign Het
Rsph4a T G 10: 33,790,539 (GRCm39) probably benign Het
Sardh A T 2: 27,105,094 (GRCm39) D676E possibly damaging Het
Sh3tc2 A G 18: 62,123,914 (GRCm39) M892V probably benign Het
Slc38a11 A G 2: 65,188,529 (GRCm39) F80S probably damaging Het
Slc6a2 C A 8: 93,699,554 (GRCm39) S194* probably null Het
Slco2b1 A G 7: 99,339,686 (GRCm39) F86L probably damaging Het
Smc3 G A 19: 53,627,845 (GRCm39) D875N probably benign Het
Sp100 G A 1: 85,636,786 (GRCm39) E575K possibly damaging Het
Spns2 A G 11: 72,349,866 (GRCm39) L196P possibly damaging Het
Taf8 A G 17: 47,801,201 (GRCm39) S261P probably benign Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Ttn C A 2: 76,738,138 (GRCm39) V4134F probably benign Het
Ush2a A G 1: 188,089,124 (GRCm39) T360A probably benign Het
Vps37d T A 5: 135,102,831 (GRCm39) M134L probably benign Het
Vwa2 T G 19: 56,894,010 (GRCm39) V329G probably benign Het
Zfp110 A G 7: 12,583,349 (GRCm39) R666G 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
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'- GTGACTGTTGGCTTAGATTCAC -3'
(R):5'- GATGGCTCTTTAAACTTTCTTGAGG -3'

Sequencing Primer
(F):5'- CTGTTGGCTTAGATTCACACTAAAG -3'
(R):5'- GTCTACACAGTGAGTTCCAGGAC -3'
Posted On 2014-08-25