Incidental Mutation 'IGL02982:Usp28'
ID 406579
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02982
Quality Score
Status
Chromosome 9
Chromosomal Location 48896675-48953817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48929739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 43 (I43V)
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: I420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: I420V

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 benign
Transcript: ENSMUST00000213874
AA Change: I420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215378
Predicted Effect probably benign
Transcript: ENSMUST00000215856
AA Change: I43V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably 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
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
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
Posted On 2016-08-02