Incidental Mutation 'IGL03278:Cops8'
ID415502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops8
Ensembl Gene ENSMUSG00000034432
Gene NameCOP9 signalosome subunit 8
SynonymsSgn8, 9430009J09Rik, Csn8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03278
Quality Score
Status
Chromosome1
Chromosomal Location90602981-90613341 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 90604365 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036153] [ENSMUST00000186750]
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000189309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191510
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Cops8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Cops8 APN 1 90604431 missense possibly damaging 0.72
IGL02012:Cops8 APN 1 90612234 missense probably damaging 1.00
R2219:Cops8 UTSW 1 90606619 missense probably benign 0.09
R2220:Cops8 UTSW 1 90606619 missense probably benign 0.09
R4989:Cops8 UTSW 1 90611002 missense probably damaging 1.00
R5133:Cops8 UTSW 1 90611002 missense probably damaging 1.00
R5134:Cops8 UTSW 1 90611002 missense probably damaging 1.00
R5287:Cops8 UTSW 1 90606620 unclassified probably benign
R5403:Cops8 UTSW 1 90606620 unclassified probably benign
R7038:Cops8 UTSW 1 90603598 start gained probably benign
Posted On2016-08-02