Incidental Mutation 'IGL02012:Cops8'
ID183390
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 #IGL02012
Quality Score
Status
Chromosome1
Chromosomal Location90602981-90613341 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90612234 bp
ZygosityHeterozygous
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]
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: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign Het
Other mutations in Cops8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Cops8 APN 1 90604431 missense possibly damaging 0.72
IGL03278:Cops8 APN 1 90604365 splice site probably null
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 On2014-05-07