Incidental Mutation 'IGL03105:Usp28'
ID418924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp28
Ensembl Gene ENSMUSG00000032267
Gene Nameubiquitin specific peptidase 28
Synonyms9830148O20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03105
Quality Score
Status
Chromosome9
Chromosomal Location48985375-49042517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49039055 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 928 (M928T)
Ref Sequence ENSEMBL: ENSMUSP00000149207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215856]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047349
AA Change: M953T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: M953T

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: M928T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215856
AA Change: M600T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216657
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adssl1 A G 12: 112,632,721 I129V probably benign Het
Ankrd35 A G 3: 96,684,057 H553R probably benign Het
Brca2 A G 5: 150,560,485 K2923R probably benign Het
Cadm3 A T 1: 173,345,016 L174M probably damaging Het
Car10 T C 11: 93,100,275 V17A probably benign Het
Cep290 A G 10: 100,551,824 K1956E possibly damaging Het
Cfhr1 T A 1: 139,547,827 probably benign Het
Crim1 A T 17: 78,315,750 probably benign Het
Dedd G A 1: 171,340,918 R224H probably damaging Het
F7 A T 8: 13,034,001 I229L probably null Het
Fam208a T A 14: 27,442,552 C272S probably damaging Het
Igkv17-121 A T 6: 68,037,300 Q112L probably damaging Het
Kcnk13 G A 12: 100,061,110 R148Q probably damaging Het
Klk13 T C 7: 43,721,480 L51P probably benign Het
Ldb2 A G 5: 44,799,373 S41P possibly damaging Het
Magi2 A G 5: 20,543,618 D767G probably damaging Het
Mical3 T C 6: 121,042,238 T8A probably benign Het
Mkln1 G T 6: 31,459,059 E318* probably null Het
Mx1 C T 16: 97,456,354 V68I possibly damaging Het
Mylk2 T C 2: 152,917,359 V350A possibly damaging Het
Nav2 T A 7: 49,464,879 S870R probably damaging Het
Olfr19 T C 16: 16,673,526 T152A probably benign Het
Olfr66 A G 7: 103,882,132 I37T possibly damaging Het
Olfr668 A T 7: 104,925,764 probably benign Het
Olfr828 T C 9: 18,815,389 R302G probably benign Het
Onecut2 A T 18: 64,341,508 K358* probably null Het
Orai3 A G 7: 127,773,553 probably benign Het
Ppp1r32 A G 19: 10,477,020 probably benign Het
Rad54b A G 4: 11,615,569 N859S probably benign Het
Sec23b C T 2: 144,582,020 R530W probably damaging Het
Slc25a35 T C 11: 68,968,670 F3S probably damaging Het
Slc7a11 A T 3: 50,372,339 I491K possibly damaging Het
Srrt A T 5: 137,299,844 N317K possibly damaging Het
Sspo T C 6: 48,473,658 probably benign Het
Taf2 A C 15: 55,045,799 D683E probably benign Het
Tcerg1l G T 7: 138,248,444 probably benign Het
Tg G T 15: 66,715,106 V1578F probably benign Het
Tmem43 G A 6: 91,480,700 G188D probably damaging Het
Tnfrsf8 T C 4: 145,298,784 Y73C probably damaging Het
Ttc21a A G 9: 119,942,576 Y147C probably benign Het
Ttn T A 2: 76,812,177 D11592V probably damaging Het
Ttn T C 2: 76,778,050 D17843G probably damaging Het
Tubgcp5 T A 7: 55,825,581 I842N probably damaging Het
Unc80 A T 1: 66,472,099 T89S probably damaging Het
Usp43 A G 11: 67,879,976 S611P possibly damaging Het
Utp20 A G 10: 88,791,096 V1000A probably benign Het
Zfp263 T C 16: 3,748,960 C380R probably damaging Het
Zfyve1 A C 12: 83,558,639 C14G probably damaging Het
Other mutations in Usp28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Usp28 APN 9 49028163 missense probably benign 0.01
IGL01105:Usp28 APN 9 49010250 missense probably damaging 1.00
IGL01124:Usp28 APN 9 49037213 missense probably damaging 1.00
IGL01304:Usp28 APN 9 49026819 missense probably damaging 0.99
IGL01527:Usp28 APN 9 49025873 missense probably benign 0.02
IGL01859:Usp28 APN 9 49024021 nonsense probably null
IGL01860:Usp28 APN 9 49032243 nonsense probably null
IGL02047:Usp28 APN 9 49035641 missense probably damaging 0.99
IGL02188:Usp28 APN 9 49024009 missense probably benign 0.00
IGL02267:Usp28 APN 9 49023965 missense probably damaging 1.00
IGL02472:Usp28 APN 9 49037769 missense possibly damaging 0.95
IGL02675:Usp28 APN 9 49039091 missense possibly damaging 0.81
IGL02982:Usp28 APN 9 49018439 missense probably benign 0.00
R0100:Usp28 UTSW 9 49035932 missense probably damaging 1.00
R0114:Usp28 UTSW 9 49039023 missense probably benign 0.00
R0196:Usp28 UTSW 9 49028278 missense probably damaging 0.96
R0206:Usp28 UTSW 9 49028269 missense probably damaging 1.00
R0349:Usp28 UTSW 9 49010281 nonsense probably null
R0379:Usp28 UTSW 9 49024067 missense possibly damaging 0.58
R0454:Usp28 UTSW 9 49039101 missense possibly damaging 0.94
R0479:Usp28 UTSW 9 49037213 missense probably damaging 1.00
R0540:Usp28 UTSW 9 49024060 missense probably benign
R0726:Usp28 UTSW 9 49003869 missense probably damaging 1.00
R0835:Usp28 UTSW 9 49001524 missense probably damaging 1.00
R0928:Usp28 UTSW 9 49030891 missense possibly damaging 0.60
R1271:Usp28 UTSW 9 49035961 critical splice donor site probably null
R1534:Usp28 UTSW 9 48985506 missense possibly damaging 0.92
R1539:Usp28 UTSW 9 49037796 missense probably benign 0.07
R1687:Usp28 UTSW 9 49024017 missense probably benign 0.00
R1867:Usp28 UTSW 9 49009194 missense probably benign 0.00
R1868:Usp28 UTSW 9 49016707 missense probably damaging 1.00
R1884:Usp28 UTSW 9 49035947 missense probably damaging 1.00
R2029:Usp28 UTSW 9 48985503 missense probably benign 0.22
R2046:Usp28 UTSW 9 49039075 missense probably damaging 1.00
R2379:Usp28 UTSW 9 49003095 missense probably null 0.94
R2404:Usp28 UTSW 9 49037258 critical splice donor site probably null
R3196:Usp28 UTSW 9 49025825 missense probably benign 0.03
R3831:Usp28 UTSW 9 49035638 missense probably benign 0.00
R3922:Usp28 UTSW 9 49030923 critical splice donor site probably null
R3924:Usp28 UTSW 9 49030923 critical splice donor site probably null
R3926:Usp28 UTSW 9 49030923 critical splice donor site probably null
R3943:Usp28 UTSW 9 49000366 missense probably benign 0.12
R4834:Usp28 UTSW 9 49001536 missense probably damaging 1.00
R5041:Usp28 UTSW 9 49037773 missense probably benign
R5186:Usp28 UTSW 9 49010250 missense probably damaging 1.00
R5308:Usp28 UTSW 9 49037201 missense probably damaging 1.00
R5870:Usp28 UTSW 9 49025985 nonsense probably null
R6838:Usp28 UTSW 9 49000430 critical splice donor site probably null
R6959:Usp28 UTSW 9 49001542 missense probably damaging 1.00
R7058:Usp28 UTSW 9 49039156 missense probably damaging 1.00
R7348:Usp28 UTSW 9 49030877 missense probably benign 0.19
Posted On2016-08-02