Incidental Mutation 'IGL02012:Cops8'
ID 183390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops8
Ensembl Gene ENSMUSG00000034432
Gene Name COP9 signalosome subunit 8
Synonyms Csn8, Sgn8, 9430009J09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02012
Quality Score
Status
Chromosome 1
Chromosomal Location 90531147-90541063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90539956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000035884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036153] [ENSMUST00000186750]
AlphaFold Q8VBV7
Predicted Effect probably damaging
Transcript: ENSMUST00000036153
AA Change: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035884
Gene: ENSMUSG00000034432
AA Change: V204A

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: ENSMUST00000190700
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Adprh A T 16: 38,266,214 (GRCm39) D309E possibly damaging Het
Armc1 A T 3: 19,211,701 (GRCm39) C40S possibly damaging Het
Cstdc5 T G 16: 36,187,802 (GRCm39) D21A possibly damaging Het
Dchs1 T G 7: 105,413,504 (GRCm39) T1104P probably damaging Het
Ddi2 A T 4: 141,435,529 (GRCm39) probably null Het
Ehbp1 G A 11: 22,051,218 (GRCm39) P420S probably damaging Het
Eif1ad T G 19: 5,418,687 (GRCm39) V80G probably damaging Het
Fat1 T C 8: 45,480,577 (GRCm39) Y3004H possibly damaging Het
Fbxo11 C T 17: 88,320,079 (GRCm39) R211Q probably benign Het
Foxf2 A G 13: 31,810,499 (GRCm39) N146S probably damaging Het
Fsd2 A T 7: 81,199,662 (GRCm39) N334K probably benign Het
Gm45234 C A 6: 124,723,011 (GRCm39) probably benign Het
Itpr3 T A 17: 27,323,069 (GRCm39) F1157I probably benign Het
Jph1 C A 1: 17,167,638 (GRCm39) W64L probably benign Het
Lmo7 T C 14: 102,126,152 (GRCm39) probably benign Het
Man2a1 T C 17: 64,973,894 (GRCm39) I390T probably damaging Het
Marveld3 C T 8: 110,674,764 (GRCm39) V351M probably damaging Het
Minar1 T C 9: 89,483,491 (GRCm39) I635M probably benign Het
Mycn A G 12: 12,987,104 (GRCm39) L431P probably damaging Het
Naip5 T C 13: 100,359,847 (GRCm39) N463S probably benign Het
Npnt A G 3: 132,614,158 (GRCm39) C182R probably damaging Het
Obscn A G 11: 58,967,333 (GRCm39) V3068A probably benign Het
Pggt1b A T 18: 46,396,022 (GRCm39) S88T probably benign Het
Prx A G 7: 27,217,326 (GRCm39) E748G probably damaging Het
Scrn3 T C 2: 73,148,773 (GRCm39) probably null Het
Trmt10b G A 4: 45,315,045 (GRCm39) R292H probably benign Het
Tuft1 A G 3: 94,529,462 (GRCm39) probably benign Het
Wfdc8 T C 2: 164,445,070 (GRCm39) probably benign Het
Other mutations in Cops8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Cops8 APN 1 90,532,153 (GRCm39) missense possibly damaging 0.72
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
R5403: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
Posted On 2014-05-07