Incidental Mutation 'R5403:Cops8'
ID 430085
Institutional Source Beutler Lab
Gene Symbol Cops8
Ensembl Gene ENSMUSG00000034432
Gene Name COP9 signalosome subunit 8
Synonyms Csn8, Sgn8, 9430009J09Rik
MMRRC Submission 042974-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5403 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 90531147-90541063 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 90534342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000036153] [ENSMUST00000186750]
AlphaFold Q8VBV7
Predicted Effect silent
Transcript: ENSMUST00000036153
SMART Domains Protein: ENSMUSP00000035884
Gene: ENSMUSG00000034432

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 31 171 2.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186152
Predicted Effect probably benign
Transcript: ENSMUST00000186750
SMART Domains Protein: ENSMUSP00000139836
Gene: ENSMUSG00000034432

DomainStartEndE-ValueType
Pfam:PCI_Csn8 1 66 7.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190700
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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 is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adamts6 A G 13: 104,489,323 (GRCm39) D392G possibly damaging Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Alkbh8 A G 9: 3,385,318 (GRCm39) K537E probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Bpifb4 A T 2: 153,785,912 (GRCm39) I17F probably damaging Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Ccdc88b T A 19: 6,835,108 (GRCm39) T38S unknown Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Cdr2 G A 7: 120,557,968 (GRCm39) Q186* probably null Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntnap3 G A 13: 64,909,792 (GRCm39) T771I possibly damaging Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Ddx50 A G 10: 62,482,809 (GRCm39) S87P probably benign Het
Dennd2b A G 7: 109,156,112 (GRCm39) S213P probably damaging Het
Dlg2 A G 7: 92,080,210 (GRCm39) T598A probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epha6 A T 16: 59,595,933 (GRCm39) D919E probably damaging Het
Fndc9 C T 11: 46,128,541 (GRCm39) S20L probably benign Het
Gpx6 A G 13: 21,501,813 (GRCm39) E145G probably damaging Het
Hc A G 2: 34,947,446 (GRCm39) Y23H probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Jmy G T 13: 93,577,904 (GRCm39) Q755K probably benign Het
Krtap4-7 A T 11: 99,534,540 (GRCm39) S108T unknown Het
Mgat5b T G 11: 116,839,483 (GRCm39) I333S probably benign Het
Mrtfb A G 16: 13,218,877 (GRCm39) T519A probably damaging Het
Naip6 G A 13: 100,436,585 (GRCm39) A646V probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Or8g22 G T 9: 38,957,999 (GRCm39) P239T probably damaging Het
Otogl T A 10: 107,644,617 (GRCm39) M1210L probably benign Het
Pheta1 A G 5: 121,990,794 (GRCm39) E52G possibly damaging Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Rad50 A G 11: 53,586,108 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Tbcd C A 11: 121,451,569 (GRCm39) N546K probably damaging Het
Tenm4 A G 7: 96,538,034 (GRCm39) D1832G probably damaging Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ube2o A T 11: 116,439,633 (GRCm39) I179N possibly damaging Het
Usp17le T C 7: 104,418,441 (GRCm39) I234V probably damaging Het
Zfp106 T C 2: 120,365,262 (GRCm39) T382A probably benign Het
Zfp607a A G 7: 27,578,744 (GRCm39) K605E possibly damaging Het
Zmynd10 T A 9: 107,427,785 (GRCm39) L363H possibly damaging Het
Other mutations in Cops8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Cops8 APN 1 90,532,153 (GRCm39) missense possibly damaging 0.72
IGL02012:Cops8 APN 1 90,539,956 (GRCm39) missense probably damaging 1.00
IGL03278:Cops8 APN 1 90,532,087 (GRCm39) splice site probably null
R2219:Cops8 UTSW 1 90,534,341 (GRCm39) missense probably benign 0.09
R2220:Cops8 UTSW 1 90,534,341 (GRCm39) missense probably benign 0.09
R4989:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5133:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5134:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5287:Cops8 UTSW 1 90,534,342 (GRCm39) unclassified probably benign
R7038:Cops8 UTSW 1 90,531,320 (GRCm39) start gained probably benign
R8113:Cops8 UTSW 1 90,531,325 (GRCm39) missense probably benign
R8165:Cops8 UTSW 1 90,539,729 (GRCm39) splice site probably null
R8921:Cops8 UTSW 1 90,532,155 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-09-06