Incidental Mutation 'IGL01359:Usp25'
ID75657
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? Possibly non essential (E-score: 0.457) question?
Stock #IGL01359
Quality Score
Status
Chromosome16
Chromosomal Location77013706-77116780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 77059253 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 245 (A245T)
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 damaging
Transcript: ENSMUST00000023580
AA Change: A245T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: A245T

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
B3gat2 T C 1: 23,763,220 F196L probably damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Galnt4 T C 10: 99,109,597 Y395H probably damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Itih3 T A 14: 30,917,772 D364V probably damaging Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Slc26a11 A T 11: 119,363,431 M192L probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in Usp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Usp25 APN 16 77062405 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
IGL02065:Usp25 APN 16 77083782 missense probably benign 0.06
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
X0065:Usp25 UTSW 16 77081556 missense probably damaging 1.00
Posted On2013-10-07