Incidental Mutation 'R0928:Usp28'
ID 80660
Institutional Source Beutler Lab
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Name ubiquitin specific peptidase 28
Synonyms 9830148O20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0928 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 48896675-48953817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48942191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 341 (S341A)
Ref Sequence ENSEMBL: ENSMUSP00000150707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215856]
AlphaFold Q5I043
Predicted Effect probably benign
Transcript: ENSMUST00000047349
AA Change: S718A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: S718A

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: S693A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215850
Predicted Effect possibly damaging
Transcript: ENSMUST00000215856
AA Change: S341A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Eps15 T C 4: 109,170,160 (GRCm39) V154A possibly damaging Het
Etnk1 A G 6: 143,130,429 (GRCm39) I183V probably benign Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gm57858 A C 3: 36,079,515 (GRCm39) N258K possibly damaging Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Vwa5a T C 9: 38,639,303 (GRCm39) Y345H probably damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) probably null 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
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
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'- GCTGCCCTGCCTCTGGGATAATG -3'
(R):5'- GGACAGCCACTATAAACAGAACCTGATG -3'

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