Incidental Mutation 'IGL00846:Usp25'
ID14738
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: 0.316) question?
Stock #IGL00846
Quality Score
Status
Chromosome16
Chromosomal Location77013706-77116780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77062405 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 264 (S264G)
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: S264G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: S264G

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
SMART Domains
(Predicted Sequence)

DomainStartEndE-ValueType
PDB:1VDL|A 1 67 5e-30 PDB
Blast:UBA 17 56 4e-14 BLAST
UIM 97 116 1.3e-5 SMART
Pfam:UIM 123 140 7e-1 PFAM
Pfam:UCH 166 655 1.2e-50 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C544G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L2133* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K326N probably damaging Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Plpp5 A T 8: 25,720,558 I59F probably damaging Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Serpinb3b T A 1: 107,155,849 N200I probably damaging Het
Slc22a15 T A 3: 101,860,820 Q512L probably benign Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wapl G T 14: 34,692,744 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null Het
Other mutations in Usp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
X0065:Usp25 UTSW 16 77081556 missense probably damaging 1.00
Posted OnDec 06, 2012