Incidental Mutation 'IGL01411:Usp18'
ID 80026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp18
Ensembl Gene ENSMUSG00000030107
Gene Name ubiquitin specific peptidase 18
Synonyms UBP43, 1110058H21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # IGL01411
Quality Score
Status
Chromosome 6
Chromosomal Location 121222865-121247876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121238380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 176 (V176M)
Ref Sequence ENSEMBL: ENSMUSP00000032198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032198]
AlphaFold Q9WTV6
Predicted Effect probably benign
Transcript: ENSMUST00000032198
AA Change: V176M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032198
Gene: ENSMUSG00000030107
AA Change: V176M

DomainStartEndE-ValueType
Pfam:UCH 51 363 3.1e-41 PFAM
Pfam:UCH_1 52 335 6.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204926
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,888,629 (GRCm39) E36K possibly damaging Het
Alox8 A T 11: 69,079,516 (GRCm39) S257R probably benign Het
Apc2 T C 10: 80,150,912 (GRCm39) S1960P probably damaging Het
Arhgap35 T C 7: 16,298,192 (GRCm39) N291S probably benign Het
AW551984 A T 9: 39,505,087 (GRCm39) D468E possibly damaging Het
B3gnt6 A C 7: 97,843,730 (GRCm39) F77V probably damaging Het
C1qtnf7 A T 5: 43,766,403 (GRCm39) M1L probably benign Het
Calm3 T C 7: 16,651,409 (GRCm39) T63A probably benign Het
Ccdc33 G A 9: 58,024,919 (GRCm39) probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Cdr2l A G 11: 115,273,192 (GRCm39) E15G probably damaging Het
Chil6 A G 3: 106,296,141 (GRCm39) W365R probably damaging Het
Ckap5 G T 2: 91,431,356 (GRCm39) R1525L probably benign Het
Col6a6 T A 9: 105,663,157 (GRCm39) K127* probably null Het
Dclre1b A G 3: 103,710,639 (GRCm39) V298A probably damaging Het
Fat1 T A 8: 45,479,837 (GRCm39) V2961E probably damaging Het
Fhit T C 14: 9,573,483 (GRCm38) D126G probably benign Het
Gpc1 T C 1: 92,784,736 (GRCm39) F303S probably damaging Het
Hsd17b4 T A 18: 50,324,881 (GRCm39) V698D probably damaging Het
Itpr2 C T 6: 146,277,560 (GRCm39) probably null Het
Klhl4 A T X: 113,432,091 (GRCm39) D168V probably damaging Het
Krt42 A G 11: 100,154,167 (GRCm39) L405P possibly damaging Het
Lrp1 A T 10: 127,417,634 (GRCm39) C85* probably null Het
Lrp2 A G 2: 69,312,611 (GRCm39) L2559P probably damaging Het
Maob T G X: 16,578,808 (GRCm39) R448S possibly damaging Het
Mast3 A G 8: 71,232,227 (GRCm39) V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,846,723 (GRCm39) V286M probably damaging Het
Mlip A G 9: 77,146,699 (GRCm39) I198T possibly damaging Het
Mocs3 T C 2: 168,073,297 (GRCm39) V248A probably damaging Het
Nxf2 T A X: 133,852,861 (GRCm39) R367S probably benign Het
Or10j3b T G 1: 173,043,695 (GRCm39) V159G probably benign Het
Or52z12 T C 7: 103,233,324 (GRCm39) W32R probably damaging Het
Parva T C 7: 112,176,217 (GRCm39) probably benign Het
Pot1a A T 6: 25,750,143 (GRCm39) probably benign Het
Ptpra T C 2: 130,386,359 (GRCm39) I603T probably damaging Het
Rad9a T C 19: 4,251,336 (GRCm39) K33E probably benign Het
Rimbp3 A G 16: 17,028,958 (GRCm39) D794G probably damaging Het
Septin5 G A 16: 18,443,680 (GRCm39) R90C probably damaging Het
Skint8 T A 4: 111,794,103 (GRCm39) N164K probably damaging Het
Slc30a3 T G 5: 31,247,424 (GRCm39) I73L probably benign Het
Stab2 A T 10: 86,815,872 (GRCm39) probably benign Het
Tnc C T 4: 63,918,959 (GRCm39) V1155M probably damaging Het
Ttc13 T G 8: 125,410,024 (GRCm39) Q525P probably damaging Het
Ttn T C 2: 76,550,479 (GRCm39) E31601G probably damaging Het
Unc5a A T 13: 55,150,741 (GRCm39) D577V probably damaging Het
Vmn1r184 T C 7: 25,966,320 (GRCm39) V22A probably benign Het
Vmn1r33 T A 6: 66,588,865 (GRCm39) I230F probably damaging Het
Vmn1r51 A G 6: 90,106,386 (GRCm39) I101V probably benign Het
Vmn2r108 T A 17: 20,691,282 (GRCm39) M414L probably benign Het
Vmn2r87 A C 10: 130,308,429 (GRCm39) V603G probably benign Het
Wt1 A G 2: 104,963,319 (GRCm39) Y16C probably damaging Het
Wwp2 C T 8: 108,232,977 (GRCm39) T159I probably benign Het
Xirp2 T C 2: 67,344,427 (GRCm39) F2223L probably benign Het
Zan T A 5: 137,387,155 (GRCm39) H4966L unknown Het
Other mutations in Usp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Usp18 APN 6 121,232,341 (GRCm39) nonsense probably null
IGL01403:Usp18 APN 6 121,245,627 (GRCm39) missense possibly damaging 0.67
IGL01810:Usp18 APN 6 121,230,730 (GRCm39) missense probably damaging 1.00
IGL02568:Usp18 APN 6 121,238,050 (GRCm39) missense probably benign 0.00
IGL02613:Usp18 APN 6 121,238,049 (GRCm39) missense probably benign 0.11
R0961:Usp18 UTSW 6 121,238,452 (GRCm39) missense probably benign 0.00
R1350:Usp18 UTSW 6 121,239,651 (GRCm39) missense possibly damaging 0.64
R1855:Usp18 UTSW 6 121,239,076 (GRCm39) missense probably benign 0.07
R1916:Usp18 UTSW 6 121,245,513 (GRCm39) missense probably benign 0.14
R1981:Usp18 UTSW 6 121,229,476 (GRCm39) missense probably benign 0.08
R2015:Usp18 UTSW 6 121,245,509 (GRCm39) missense probably damaging 1.00
R4062:Usp18 UTSW 6 121,238,326 (GRCm39) missense probably benign
R5000:Usp18 UTSW 6 121,229,479 (GRCm39) missense possibly damaging 0.84
R5894:Usp18 UTSW 6 121,238,456 (GRCm39) missense probably benign 0.03
R6006:Usp18 UTSW 6 121,239,781 (GRCm39) missense possibly damaging 0.58
R6932:Usp18 UTSW 6 121,229,473 (GRCm39) missense probably benign 0.01
R7357:Usp18 UTSW 6 121,230,808 (GRCm39) missense possibly damaging 0.90
R8243:Usp18 UTSW 6 121,246,103 (GRCm39) missense probably benign 0.00
R8325:Usp18 UTSW 6 121,230,769 (GRCm39) missense probably damaging 1.00
R9005:Usp18 UTSW 6 121,229,529 (GRCm39) missense probably benign 0.09
R9578:Usp18 UTSW 6 121,239,726 (GRCm39) missense probably benign 0.01
Z1177:Usp18 UTSW 6 121,232,234 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05