Incidental Mutation 'R4834:Usp28'
ID 373075
Institutional Source Beutler Lab
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Name ubiquitin specific peptidase 28
Synonyms 9830148O20Rik
MMRRC Submission 041977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4834 (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 C at 48912836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 29 (V29A)
Ref Sequence ENSEMBL: ENSMUSP00000150005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215788]
AlphaFold Q5I043
Predicted Effect probably damaging
Transcript: ENSMUST00000047349
AA Change: V55A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: V55A

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: V55A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215788
AA Change: V29A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216607
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,343,787 (GRCm39) D146A possibly damaging Het
Acsl5 C A 19: 55,268,991 (GRCm39) D217E probably benign Het
Acss3 A G 10: 106,920,666 (GRCm39) probably null Het
Adam24 G A 8: 41,132,738 (GRCm39) G69R probably damaging Het
Adgrg7 A T 16: 56,553,232 (GRCm39) W622R probably damaging Het
Ajm1 T C 2: 25,469,530 (GRCm39) E127G possibly damaging Het
Ankrd26 T C 6: 118,500,679 (GRCm39) M931V probably benign Het
Ano8 C T 8: 71,936,939 (GRCm39) V187M probably damaging Het
Ap3d1 A T 10: 80,555,560 (GRCm39) C348S probably damaging Het
Apob T C 12: 8,064,101 (GRCm39) V376A possibly damaging Het
Arhgap21 A T 2: 20,870,130 (GRCm39) D925E probably damaging Het
Bmp6 T A 13: 38,669,817 (GRCm39) V367E probably damaging Het
Bmp8b A T 4: 123,016,843 (GRCm39) Q348L probably damaging Het
Ccr1l1 T C 9: 123,777,742 (GRCm39) K235R probably damaging Het
Cd59a G A 2: 103,944,431 (GRCm39) C93Y probably damaging Het
Clstn3 C T 6: 124,408,912 (GRCm39) probably null Het
Col4a2 C A 8: 11,456,836 (GRCm39) Y236* probably null Het
Csn1s2a T C 5: 87,929,637 (GRCm39) F79L probably benign Het
Cyp4a10 A C 4: 115,383,005 (GRCm39) Y360S probably damaging Het
Cyp4a29 A T 4: 115,106,867 (GRCm39) I175F probably benign Het
Dck T A 5: 88,920,595 (GRCm39) I105N probably damaging Het
Dicer1 A G 12: 104,662,850 (GRCm39) L1577P probably benign Het
Disp2 G A 2: 118,622,985 (GRCm39) S1239N probably benign Het
Dop1b T C 16: 93,536,892 (GRCm39) M1T probably null Het
E130308A19Rik T A 4: 59,690,317 (GRCm39) C50* probably null Het
Elf2 A T 3: 51,184,642 (GRCm39) D14E probably damaging Het
Epm2aip1 C T 9: 111,102,262 (GRCm39) R412C probably benign Het
Foxm1 T C 6: 128,346,410 (GRCm39) F114L probably damaging Het
Glcci1 C T 6: 8,582,601 (GRCm39) R134* probably null Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gspt1 T C 16: 11,040,581 (GRCm39) K576E probably damaging Het
H2-M10.3 T C 17: 36,678,286 (GRCm39) K180E probably benign Het
Hecw2 A T 1: 53,869,911 (GRCm39) V1439E probably damaging Het
Hr T C 14: 70,797,362 (GRCm39) S561P probably damaging Het
Hunk T C 16: 90,293,086 (GRCm39) V456A probably benign Het
Il1rap T A 16: 26,495,685 (GRCm39) D97E probably damaging Het
Inpp5d T G 1: 87,625,245 (GRCm39) V474G possibly damaging Het
Itsn1 T A 16: 91,703,677 (GRCm39) L87* probably null Het
Izumo3 T C 4: 92,035,208 (GRCm39) D3G possibly damaging Het
Kifc2 T A 15: 76,545,511 (GRCm39) M1K probably null Het
Krt8 T A 15: 101,907,256 (GRCm39) I276F probably damaging Het
Ksr2 C A 5: 117,806,392 (GRCm39) Q402K probably benign Het
Lama2 A G 10: 26,882,745 (GRCm39) V2606A probably benign Het
Met A G 6: 17,491,412 (GRCm39) H58R probably damaging Het
Mier3 C T 13: 111,851,643 (GRCm39) Q542* probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Msl3l2 C T 10: 55,991,655 (GRCm39) R127C probably damaging Het
Naglu T C 11: 100,967,814 (GRCm39) L588P probably benign Het
Nf1 T C 11: 79,437,123 (GRCm39) L2013P probably damaging Het
Nid1 A G 13: 13,683,408 (GRCm39) Y1162C probably damaging Het
Nlrc5 G T 8: 95,232,113 (GRCm39) R1313L probably benign Het
Nrg1 A G 8: 32,407,747 (GRCm39) V162A probably benign Het
Nup188 T C 2: 30,229,596 (GRCm39) L1310P probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14a259 G A 7: 86,012,952 (GRCm39) L198F probably benign Het
Or4f6 A G 2: 111,839,276 (GRCm39) L85P probably damaging Het
Or5ae1 T G 7: 84,565,491 (GRCm39) F168C probably damaging Het
Pbk T A 14: 66,052,733 (GRCm39) L192* probably null Het
Pcdhga4 T C 18: 37,818,490 (GRCm39) I13T probably benign Het
Peg10 A T 6: 4,754,294 (GRCm39) probably benign Het
Polq T A 16: 36,848,176 (GRCm39) V261D probably damaging Het
Ppp2r5b T A 19: 6,280,540 (GRCm39) T313S possibly damaging Het
Ptk2 A T 15: 73,087,945 (GRCm39) probably null Het
Ptpn7 T A 1: 135,065,618 (GRCm39) probably null Het
Rab11fip1 A G 8: 27,643,111 (GRCm39) S563P probably damaging Het
Scn1a A T 2: 66,158,866 (GRCm39) C351* probably null Het
Slc10a5 A T 3: 10,399,859 (GRCm39) V267D probably damaging Het
Slc37a2 T A 9: 37,146,404 (GRCm39) M368L probably damaging Het
Slc49a4 T A 16: 35,555,945 (GRCm39) T172S probably benign Het
Slc6a20b T A 9: 123,425,113 (GRCm39) T585S probably benign Het
Srcap T C 7: 127,156,782 (GRCm39) probably null Het
Tbx18 T C 9: 87,609,502 (GRCm39) M178V possibly damaging Het
Tmprss11b C A 5: 86,811,418 (GRCm39) C172F probably damaging Het
Traf5 T C 1: 191,751,198 (GRCm39) Q91R probably benign Het
Trappc8 A T 18: 20,958,122 (GRCm39) Y1248N probably damaging Het
Trpa1 A G 1: 14,966,747 (GRCm39) L539S possibly damaging Het
Tyrp1 T A 4: 80,764,833 (GRCm39) Y3* probably null Het
Ubr7 A T 12: 102,727,761 (GRCm39) K94N probably damaging Het
Ugt2a1 C A 5: 87,633,894 (GRCm39) probably null Het
Unc50 T A 1: 37,471,710 (GRCm39) I120K probably damaging Het
Usp9y A G Y: 1,317,002 (GRCm39) I1849T probably benign Het
Vmn2r102 T A 17: 19,898,203 (GRCm39) V406E probably damaging Het
Vmn2r4 G A 3: 64,317,484 (GRCm39) R85W probably benign Het
Xirp2 A G 2: 67,346,750 (GRCm39) D2997G probably benign Het
Zc2hc1c A T 12: 85,336,982 (GRCm39) E213V probably damaging Het
Zfp420 C T 7: 29,573,759 (GRCm39) probably benign Het
Zfp641 C T 15: 98,191,585 (GRCm39) E34K 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
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
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'- AGTCTTCGTATCACCTGGCTTG -3'
(R):5'- GTGATAAATGAGCGGCCAGTC -3'

Sequencing Primer
(F):5'- TCCATCTCCAGGTGCACCAG -3'
(R):5'- GGCCAGTCGCTGTCTTCTG -3'
Posted On 2016-03-01