Incidental Mutation 'IGL02568:Usp18'
ID 298917
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 # IGL02568
Quality Score
Status
Chromosome 6
Chromosomal Location 121222865-121247876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121238050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 143 (T143I)
Ref Sequence ENSEMBL: ENSMUSP00000032198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032198]
AlphaFold Q9WTV6
Predicted Effect probably benign
Transcript: ENSMUST00000032198
AA Change: T143I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032198
Gene: ENSMUSG00000030107
AA Change: T143I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,033,184 (GRCm39) probably benign Het
Abcg5 C T 17: 84,977,827 (GRCm39) R143Q probably damaging Het
Arap3 G A 18: 38,129,711 (GRCm39) T150I probably benign Het
Arhgap32 T C 9: 32,158,490 (GRCm39) V175A probably damaging Het
Bpifb3 A G 2: 153,766,721 (GRCm39) E208G probably benign Het
C2 T A 17: 35,083,325 (GRCm39) D518V possibly damaging Het
C6 T A 15: 4,820,646 (GRCm39) C552* probably null Het
Ccdc38 A T 10: 93,415,685 (GRCm39) D447V probably damaging Het
Cept1 C T 3: 106,411,035 (GRCm39) R386H probably benign Het
Comt A G 16: 18,230,454 (GRCm39) V85A probably damaging Het
Ddx24 G T 12: 103,383,571 (GRCm39) L627I probably damaging Het
Efemp1 T C 11: 28,866,971 (GRCm39) probably null Het
Etf1 T C 18: 35,046,714 (GRCm39) T99A possibly damaging Het
Fhad1 T C 4: 141,660,105 (GRCm39) E68G probably null Het
Fzd3 C A 14: 65,473,389 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,606 (GRCm39) F119L probably benign Het
Golga5 G T 12: 102,438,338 (GRCm39) V18L probably benign Het
Il16 C A 7: 83,310,484 (GRCm39) R474M probably damaging Het
Itpr1 C A 6: 108,316,515 (GRCm39) Q71K possibly damaging Het
Kif21b T G 1: 136,100,605 (GRCm39) L1562R probably damaging Het
Lamc2 T C 1: 153,042,008 (GRCm39) E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 (GRCm39) L35R probably benign Het
Naip6 C A 13: 100,452,780 (GRCm39) G94W probably damaging Het
Nccrp1 G A 7: 28,243,905 (GRCm39) A226V probably damaging Het
Nckap5l A G 15: 99,323,564 (GRCm39) Y980H probably damaging Het
Ncoa3 T C 2: 165,911,277 (GRCm39) S1345P probably damaging Het
Nop2 T C 6: 125,117,813 (GRCm39) S455P probably damaging Het
Nup93 T C 8: 95,036,263 (GRCm39) F689S probably damaging Het
Or5b112 T C 19: 13,319,583 (GRCm39) F154L probably benign Het
Plekhm1 T A 11: 103,285,876 (GRCm39) E186D probably damaging Het
Plxdc1 T C 11: 97,869,390 (GRCm39) Q66R probably damaging Het
Prkdc T G 16: 15,544,406 (GRCm39) Y1799D probably damaging Het
Rasa2 A G 9: 96,462,563 (GRCm39) F220L probably damaging Het
Rftn1 T C 17: 50,344,027 (GRCm39) D87G probably damaging Het
Rgs6 C T 12: 83,117,376 (GRCm39) T266M probably benign Het
Sec16a A G 2: 26,326,054 (GRCm39) Y1208H probably damaging Het
Slc12a1 G T 2: 125,026,648 (GRCm39) V428L probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T A 4: 58,135,441 (GRCm39) T556S probably benign Het
Tanc2 T A 11: 105,667,777 (GRCm39) N119K probably benign Het
Tpgs1 T A 10: 79,505,238 (GRCm39) probably benign Het
Tpm3-rs7 A G 14: 113,552,370 (GRCm39) E88G probably damaging Het
Tsr1 T C 11: 74,791,204 (GRCm39) V261A probably benign Het
Vmn2r24 T C 6: 123,792,812 (GRCm39) I713T probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging 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
IGL01411:Usp18 APN 6 121,238,380 (GRCm39) missense probably benign 0.01
IGL01810:Usp18 APN 6 121,230,730 (GRCm39) missense probably damaging 1.00
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 2015-04-16