Incidental Mutation 'IGL01380:Usp25'
ID78832
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 #IGL01380
Quality Score
Status
Chromosome16
Chromosomal Location77013706-77116780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77093678 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 758 (L758P)
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: L758P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: L758P

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,022 V352L possibly damaging Het
Ankrd44 A T 1: 54,727,565 M488K probably benign Het
Ano8 A G 8: 71,480,809 probably benign Het
Atp2a1 T A 7: 126,448,770 M623L possibly damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Btla A C 16: 45,250,353 D225A probably benign Het
C030048H21Rik G A 2: 26,256,647 Q1218* probably null Het
C130079G13Rik A G 3: 59,932,632 T42A probably benign Het
Cacna1a A G 8: 84,559,117 Y750C probably damaging Het
Ccdc15 A T 9: 37,276,557 probably benign Het
Ccdc18 T A 5: 108,180,887 I724N probably damaging Het
Cluh T A 11: 74,665,946 F937L probably benign Het
Clybl G T 14: 122,379,349 A259S probably benign Het
Cyp4f39 T G 17: 32,481,858 I167S probably damaging Het
Dchs1 T A 7: 105,762,211 D1566V probably damaging Het
Dnah3 C T 7: 119,926,564 A3867T probably damaging Het
Dtwd1 T A 2: 126,159,927 L189Q probably benign Het
Dusp10 T C 1: 184,069,014 I326T possibly damaging Het
Eaf1 T A 14: 31,497,810 probably benign Het
Eif3c C T 7: 126,564,413 probably benign Het
Fam169a C T 13: 97,091,951 T44M probably damaging Het
Fam184a T C 10: 53,694,686 probably benign Het
Fam25c C T 14: 34,353,698 A46T probably null Het
Gckr A G 5: 31,299,633 probably benign Het
Gfra2 G T 14: 70,967,146 probably benign Het
Gm8237 A T 14: 5,863,703 probably null Het
H2-Eb2 G T 17: 34,335,809 L228F probably benign Het
Igf2r T C 17: 12,695,374 N1736S probably benign Het
Izumo1 T G 7: 45,627,095 S361A probably benign Het
Klri1 T C 6: 129,698,798 I170V probably benign Het
L3mbtl2 C T 15: 81,671,125 A193V possibly damaging Het
Lats1 T A 10: 7,691,780 M105K possibly damaging Het
Lrpprc T C 17: 84,722,730 D1080G probably benign Het
Lrrc74a A T 12: 86,761,722 M425L possibly damaging Het
Mfsd13a G T 19: 46,367,908 D151Y probably damaging Het
Mst1 G A 9: 108,084,588 E640K probably damaging Het
Napsa T C 7: 44,586,674 V379A probably damaging Het
Olfr1 A T 11: 73,395,191 M277K probably damaging Het
Olfr371 A T 8: 85,231,329 Y278F possibly damaging Het
Olfr371 C A 8: 85,231,146 S217Y probably damaging Het
Olfr544 C T 7: 102,484,385 C245Y probably damaging Het
Otop3 T C 11: 115,346,411 V567A probably damaging Het
Oxsr1 A T 9: 119,260,101 probably benign Het
Pak2 A T 16: 32,041,544 V167E probably benign Het
Pcdhb16 A G 18: 37,479,445 H486R probably benign Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rbm6 T C 9: 107,788,349 D616G probably damaging Het
Sf3b1 T C 1: 54,987,949 Y1249C probably damaging Het
Sipa1l3 T C 7: 29,331,372 H534R possibly damaging Het
Slco1c1 T C 6: 141,540,051 Y136H probably damaging Het
Smarca4 A G 9: 21,679,073 M1333V probably benign Het
Smc4 A G 3: 69,025,828 D54G probably damaging Het
Spag5 T A 11: 78,304,617 V250E possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Suv39h2 T A 2: 3,464,259 probably benign Het
Taar8b T A 10: 24,092,107 H63L probably damaging Het
Tex2 G A 11: 106,544,315 Q264* probably null Het
Thnsl2 A C 6: 71,138,756 S156A probably benign Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Zfyve1 G A 12: 83,552,507 R144C probably damaging Het
Zpld1 A G 16: 55,251,770 V42A probably damaging 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
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
R7418:Usp25 UTSW 16 77113842 nonsense probably null
R7500:Usp25 UTSW 16 77077201 missense probably damaging 1.00
R7886:Usp25 UTSW 16 77113771 missense probably damaging 0.99
R7969:Usp25 UTSW 16 77113771 missense probably damaging 0.99
R8005:Usp25 UTSW 16 77077068 missense probably benign
R8046:Usp25 UTSW 16 77109175 missense probably damaging 1.00
R8069:Usp25 UTSW 16 77069055 missense possibly damaging 0.58
X0065:Usp25 UTSW 16 77081556 missense probably damaging 1.00
Z1176:Usp25 UTSW 16 77071791 missense probably damaging 0.98
Z1176:Usp25 UTSW 16 77071792 missense possibly damaging 0.93
Z1176:Usp25 UTSW 16 77081521 missense probably damaging 1.00
Z1176:Usp25 UTSW 16 77083913 missense probably benign
Z1176:Usp25 UTSW 16 77113830 missense probably benign
Posted On2013-11-05