Incidental Mutation 'IGL02065:Usp25'
ID185612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp25
Ensembl Gene ENSMUSG00000022867
Gene Nameubiquitin specific peptidase 25
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02065
Quality Score
Status
Chromosome16
Chromosomal Location77013706-77116780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77083782 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 677 (V677A)
Ref Sequence ENSEMBL: ENSMUSP00000023580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023580]
PDB Structure
Solution Structure of RSGI RUH-013, a UBA domain in Mouse cDNA [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000023580
AA Change: V677A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: V677A

DomainStartEndE-ValueType
PDB:1VDL|A 1 67 2e-35 PDB
Blast:UBA 17 56 9e-16 BLAST
UIM 97 116 5.27e-3 SMART
Pfam:UIM 124 140 6.7e-3 PFAM
Pfam:UCH 168 655 9.3e-55 PFAM
Pfam:UCH_1 169 632 3.1e-14 PFAM
coiled coil region 685 714 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232538
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased severity of IL17-induced pulmonary inflammation and MOG-induced experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,312,901 E770K possibly damaging Het
Abhd17a C A 10: 80,586,561 A22S probably benign Het
Actbl2 A G 13: 111,255,691 T187A probably benign Het
Adgrl3 G A 5: 81,512,217 G278R probably damaging Het
Apoh C A 11: 108,414,305 probably benign Het
Atp2b2 A G 6: 113,813,867 F192S probably damaging Het
Bdh1 T C 16: 31,449,936 I163T possibly damaging Het
Bmp1 G T 14: 70,486,220 N725K probably damaging Het
Bmp1 T A 14: 70,490,107 I679F probably damaging Het
Bmp2 T A 2: 133,560,924 F132I probably benign Het
Bpifb5 T C 2: 154,227,183 L140P probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil3 T C 14: 55,493,822 probably benign Het
Ccdc57 T C 11: 120,873,760 T730A possibly damaging Het
Cdh10 G T 15: 19,013,256 K647N probably damaging Het
Cdh17 A C 4: 11,771,373 probably benign Het
Cep126 A G 9: 8,099,924 S870P probably benign Het
Col6a4 T C 9: 106,077,103 T346A probably damaging Het
Csmd3 A C 15: 47,666,628 V2592G probably damaging Het
Dnajc16 A T 4: 141,776,933 F239I probably damaging Het
F5 G A 1: 164,190,126 V591M probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fchsd2 T G 7: 101,177,222 probably null Het
Flad1 A T 3: 89,408,987 D89E probably damaging Het
Fsd1 C A 17: 55,996,499 P457Q probably damaging Het
Gm21985 A G 2: 112,357,584 D1012G possibly damaging Het
Gon4l A G 3: 88,857,210 D366G probably null Het
Hadha A G 5: 30,142,845 probably benign Het
Kdr A G 5: 75,961,853 probably benign Het
Kyat3 A G 3: 142,720,375 K24R probably benign Het
Map3k21 A G 8: 125,941,658 D661G probably benign Het
Mical1 A T 10: 41,484,411 K615N possibly damaging Het
Ncor1 T C 11: 62,419,609 K204E possibly damaging Het
Nmral1 T A 16: 4,716,482 I32F probably benign Het
Nrros T C 16: 32,144,674 D175G possibly damaging Het
Olfr1329 G A 4: 118,916,771 T232I probably benign Het
Olfr536 T C 7: 140,504,164 I98M probably benign Het
Ryr2 A G 13: 11,572,257 F4713L possibly damaging Het
Serpinb1b G A 13: 33,091,318 G142D possibly damaging Het
Slc10a1 A G 12: 80,960,474 S178P possibly damaging Het
Spint1 G A 2: 119,238,217 R144H probably benign Het
Sult6b1 C T 17: 78,889,075 G213R probably damaging Het
Themis3 G T 17: 66,555,905 H353N probably benign Het
Tpr T C 1: 150,413,774 S619P probably benign Het
Ttn A T 2: 76,814,790 V11161E probably damaging Het
Usp13 G A 3: 32,933,165 V837I probably damaging Het
Wdr62 A G 7: 30,243,469 V1001A possibly damaging Het
Whrn A T 4: 63,418,585 I580N possibly damaging Het
Wls T A 3: 159,911,356 V344D probably damaging Het
Zan A T 5: 137,386,960 Y5070* probably null Het
Other mutations in Usp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Usp25 APN 16 77062405 missense probably damaging 1.00
IGL01359:Usp25 APN 16 77059253 missense probably damaging 1.00
IGL01380:Usp25 APN 16 77093678 missense probably benign 0.06
IGL01614:Usp25 APN 16 77077117 missense probably damaging 1.00
IGL02271:Usp25 APN 16 77115447 missense probably damaging 1.00
IGL03184:Usp25 APN 16 77081653 missense probably damaging 1.00
IGL03046:Usp25 UTSW 16 77074866 missense probably damaging 1.00
R0433:Usp25 UTSW 16 77109217 missense probably benign 0.02
R0741:Usp25 UTSW 16 77071708 missense possibly damaging 0.80
R0944:Usp25 UTSW 16 77081447 splice site probably benign
R1324:Usp25 UTSW 16 77080387 missense probably damaging 0.98
R1341:Usp25 UTSW 16 77115443 missense probably benign
R1373:Usp25 UTSW 16 77062385 splice site probably benign
R1641:Usp25 UTSW 16 77071671 missense possibly damaging 0.89
R1777:Usp25 UTSW 16 77081554 missense probably damaging 1.00
R1813:Usp25 UTSW 16 77114950 missense probably benign 0.00
R1960:Usp25 UTSW 16 77076371 missense probably damaging 1.00
R2256:Usp25 UTSW 16 77113794 missense probably benign
R2271:Usp25 UTSW 16 77076429 missense probably damaging 0.97
R4404:Usp25 UTSW 16 77115453 missense probably damaging 1.00
R4408:Usp25 UTSW 16 77115453 missense probably damaging 1.00
R4502:Usp25 UTSW 16 77115396 missense probably damaging 1.00
R4604:Usp25 UTSW 16 77115415 missense probably damaging 1.00
R4612:Usp25 UTSW 16 77033945 missense possibly damaging 0.92
R4744:Usp25 UTSW 16 77114989 missense probably damaging 1.00
R4867:Usp25 UTSW 16 77050467 missense probably damaging 1.00
R4932:Usp25 UTSW 16 77033982 critical splice donor site probably null
R5087:Usp25 UTSW 16 77077119 missense probably benign 0.00
R5165:Usp25 UTSW 16 77076405 missense possibly damaging 0.85
R5184:Usp25 UTSW 16 77109227 missense probably benign 0.00
R5307:Usp25 UTSW 16 77093706 missense probably benign
R5331:Usp25 UTSW 16 77050558 missense probably damaging 1.00
R5355:Usp25 UTSW 16 77050454 missense probably damaging 1.00
R5479:Usp25 UTSW 16 77107913 missense possibly damaging 0.51
R5619:Usp25 UTSW 16 77033945 missense probably benign 0.22
R5646:Usp25 UTSW 16 77050472 missense probably benign 0.34
R5946:Usp25 UTSW 16 77115054 nonsense probably null
R6013:Usp25 UTSW 16 77077021 missense probably benign 0.00
R6418:Usp25 UTSW 16 77062442 missense probably damaging 1.00
R6653:Usp25 UTSW 16 77059288 missense probably benign 0.29
R6709:Usp25 UTSW 16 77083932 missense probably benign
R6987:Usp25 UTSW 16 77077180 missense probably damaging 1.00
R7418:Usp25 UTSW 16 77113842 nonsense probably null
R7500:Usp25 UTSW 16 77077201 missense probably damaging 1.00
X0065:Usp25 UTSW 16 77081556 missense probably damaging 1.00
Posted On2014-05-07