Incidental Mutation 'IGL00846:Usp25'
ID 14738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp25
Ensembl Gene ENSMUSG00000022867
Gene Name ubiquitin specific peptidase 25
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00846
Quality Score
Status
Chromosome 16
Chromosomal Location 76810594-76913668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76859293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 264 (S264G)
Ref Sequence ENSEMBL: ENSMUSP00000023580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023580]
AlphaFold P57080
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
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: 126,098,350 (GRCm39) T181A probably damaging Het
Caskin1 T C 17: 24,718,323 (GRCm39) probably null Het
Cass4 A C 2: 172,271,643 (GRCm39) probably benign Het
Cdh26 A T 2: 178,123,417 (GRCm39) Y672F possibly damaging Het
Cep290 T A 10: 100,376,195 (GRCm39) probably benign Het
Cntnap2 T C 6: 47,169,972 (GRCm39) L1146P probably benign Het
Cntnap5b T G 1: 100,091,948 (GRCm39) C230G probably damaging Het
Ctnnd1 C T 2: 84,452,354 (GRCm39) probably null Het
Cux1 A G 5: 136,355,650 (GRCm39) I324T probably damaging Het
Dnajb4 T C 3: 151,899,118 (GRCm39) N36S probably damaging Het
Fancc T A 13: 63,488,270 (GRCm39) T237S possibly damaging Het
Fip1l1 A G 5: 74,747,726 (GRCm39) probably benign Het
Hemgn G T 4: 46,396,171 (GRCm39) T355K possibly damaging Het
Hivep1 T A 13: 42,321,092 (GRCm39) L42* probably null Het
Hps3 A G 3: 20,079,956 (GRCm39) W234R probably benign Het
Kit A T 5: 75,801,471 (GRCm39) N586I probably damaging Het
Mettl14 T A 3: 123,165,012 (GRCm39) K109N probably damaging Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Naprt T A 15: 75,763,637 (GRCm39) Y395F probably benign Het
Nostrin C T 2: 69,015,899 (GRCm39) probably benign Het
Pgap1 G T 1: 54,531,180 (GRCm39) probably benign Het
Plpp5 A T 8: 26,210,585 (GRCm39) I59F probably damaging Het
Prrc2b T C 2: 32,089,109 (GRCm39) probably benign Het
Scn4a A T 11: 106,218,944 (GRCm39) V958D probably benign Het
Serpinb3b T A 1: 107,083,579 (GRCm39) N200I probably damaging Het
Slc22a15 T A 3: 101,768,136 (GRCm39) Q512L probably benign Het
Tmf1 A T 6: 97,150,277 (GRCm39) Y477N possibly damaging Het
Trim10 T A 17: 37,182,584 (GRCm39) L150H probably damaging Het
Ttc41 A G 10: 86,572,797 (GRCm39) E723G possibly damaging Het
Vopp1 A G 6: 57,731,465 (GRCm39) probably benign Het
Wapl G T 14: 34,414,701 (GRCm39) probably benign Het
Wbp1 A G 6: 83,097,022 (GRCm39) F93S probably damaging Het
Wt1 G T 2: 104,997,302 (GRCm39) R413L probably damaging Het
Zfp345 C T 2: 150,314,538 (GRCm39) G333D possibly damaging Het
Zmynd11 C A 13: 9,770,808 (GRCm39) probably null Het
Other mutations in Usp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Usp25 APN 16 76,856,141 (GRCm39) missense probably damaging 1.00
IGL01380:Usp25 APN 16 76,890,566 (GRCm39) missense probably benign 0.06
IGL01614:Usp25 APN 16 76,874,005 (GRCm39) missense probably damaging 1.00
IGL02065:Usp25 APN 16 76,880,670 (GRCm39) missense probably benign 0.06
IGL02271:Usp25 APN 16 76,912,335 (GRCm39) missense probably damaging 1.00
IGL03184:Usp25 APN 16 76,878,541 (GRCm39) missense probably damaging 1.00
IGL03046:Usp25 UTSW 16 76,871,754 (GRCm39) missense probably damaging 1.00
R0433:Usp25 UTSW 16 76,906,105 (GRCm39) missense probably benign 0.02
R0741:Usp25 UTSW 16 76,868,596 (GRCm39) missense possibly damaging 0.80
R0944:Usp25 UTSW 16 76,878,335 (GRCm39) splice site probably benign
R1324:Usp25 UTSW 16 76,877,275 (GRCm39) missense probably damaging 0.98
R1341:Usp25 UTSW 16 76,912,331 (GRCm39) missense probably benign
R1373:Usp25 UTSW 16 76,859,273 (GRCm39) splice site probably benign
R1641:Usp25 UTSW 16 76,868,559 (GRCm39) missense possibly damaging 0.89
R1777:Usp25 UTSW 16 76,878,442 (GRCm39) missense probably damaging 1.00
R1813:Usp25 UTSW 16 76,911,838 (GRCm39) missense probably benign 0.00
R1960:Usp25 UTSW 16 76,873,259 (GRCm39) missense probably damaging 1.00
R2256:Usp25 UTSW 16 76,910,682 (GRCm39) missense probably benign
R2271:Usp25 UTSW 16 76,873,317 (GRCm39) missense probably damaging 0.97
R4404:Usp25 UTSW 16 76,912,341 (GRCm39) missense probably damaging 1.00
R4408:Usp25 UTSW 16 76,912,341 (GRCm39) missense probably damaging 1.00
R4502:Usp25 UTSW 16 76,912,284 (GRCm39) missense probably damaging 1.00
R4604:Usp25 UTSW 16 76,912,303 (GRCm39) missense probably damaging 1.00
R4612:Usp25 UTSW 16 76,830,833 (GRCm39) missense possibly damaging 0.92
R4744:Usp25 UTSW 16 76,911,877 (GRCm39) missense probably damaging 1.00
R4867:Usp25 UTSW 16 76,847,355 (GRCm39) missense probably damaging 1.00
R4932:Usp25 UTSW 16 76,830,870 (GRCm39) critical splice donor site probably null
R5087:Usp25 UTSW 16 76,874,007 (GRCm39) missense probably benign 0.00
R5165:Usp25 UTSW 16 76,873,293 (GRCm39) missense possibly damaging 0.85
R5184:Usp25 UTSW 16 76,906,115 (GRCm39) missense probably benign 0.00
R5307:Usp25 UTSW 16 76,890,594 (GRCm39) missense probably benign
R5331:Usp25 UTSW 16 76,847,446 (GRCm39) missense probably damaging 1.00
R5355:Usp25 UTSW 16 76,847,342 (GRCm39) missense probably damaging 1.00
R5479:Usp25 UTSW 16 76,904,801 (GRCm39) missense possibly damaging 0.51
R5619:Usp25 UTSW 16 76,830,833 (GRCm39) missense probably benign 0.22
R5646:Usp25 UTSW 16 76,847,360 (GRCm39) missense probably benign 0.34
R5946:Usp25 UTSW 16 76,911,942 (GRCm39) nonsense probably null
R6013:Usp25 UTSW 16 76,873,909 (GRCm39) missense probably benign 0.00
R6418:Usp25 UTSW 16 76,859,330 (GRCm39) missense probably damaging 1.00
R6653:Usp25 UTSW 16 76,856,176 (GRCm39) missense probably benign 0.29
R6709:Usp25 UTSW 16 76,880,820 (GRCm39) missense probably benign
R6987:Usp25 UTSW 16 76,874,068 (GRCm39) missense probably damaging 1.00
R7418:Usp25 UTSW 16 76,910,730 (GRCm39) nonsense probably null
R7500:Usp25 UTSW 16 76,874,089 (GRCm39) missense probably damaging 1.00
R7886:Usp25 UTSW 16 76,910,659 (GRCm39) missense probably damaging 0.99
R7961:Usp25 UTSW 16 76,856,150 (GRCm39) missense probably damaging 1.00
R8005:Usp25 UTSW 16 76,873,956 (GRCm39) missense probably benign
R8046:Usp25 UTSW 16 76,906,063 (GRCm39) missense probably damaging 1.00
R8069:Usp25 UTSW 16 76,865,943 (GRCm39) missense possibly damaging 0.58
R8140:Usp25 UTSW 16 76,868,569 (GRCm39) nonsense probably null
R8167:Usp25 UTSW 16 76,904,819 (GRCm39) missense probably damaging 1.00
R8437:Usp25 UTSW 16 76,830,800 (GRCm39) missense probably damaging 1.00
R8704:Usp25 UTSW 16 76,856,178 (GRCm39) missense probably benign 0.00
R8903:Usp25 UTSW 16 76,878,421 (GRCm39) missense probably damaging 1.00
R9123:Usp25 UTSW 16 76,911,969 (GRCm39) critical splice donor site probably null
R9276:Usp25 UTSW 16 76,910,721 (GRCm39) missense probably benign 0.09
R9286:Usp25 UTSW 16 76,904,864 (GRCm39) missense probably damaging 1.00
R9368:Usp25 UTSW 16 76,904,843 (GRCm39) missense probably damaging 1.00
R9489:Usp25 UTSW 16 76,874,046 (GRCm39) missense probably damaging 1.00
R9515:Usp25 UTSW 16 76,852,076 (GRCm39) missense probably damaging 1.00
R9516:Usp25 UTSW 16 76,852,076 (GRCm39) missense probably damaging 1.00
R9580:Usp25 UTSW 16 76,880,682 (GRCm39) missense probably benign 0.00
R9605:Usp25 UTSW 16 76,874,046 (GRCm39) missense probably damaging 1.00
R9667:Usp25 UTSW 16 76,874,123 (GRCm39) critical splice donor site probably null
X0065:Usp25 UTSW 16 76,878,444 (GRCm39) missense probably damaging 1.00
Z1176:Usp25 UTSW 16 76,878,409 (GRCm39) missense probably damaging 1.00
Z1176:Usp25 UTSW 16 76,868,680 (GRCm39) missense possibly damaging 0.93
Z1176:Usp25 UTSW 16 76,868,679 (GRCm39) missense probably damaging 0.98
Z1176:Usp25 UTSW 16 76,910,718 (GRCm39) missense probably benign
Z1176:Usp25 UTSW 16 76,880,801 (GRCm39) missense probably benign
Posted On 2012-12-06