Incidental Mutation 'IGL00814:Cops6'
ID 9846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops6
Ensembl Gene ENSMUSG00000019494
Gene Name COP9 signalosome subunit 6
Synonyms COP9 complex S6, VIP/MOV34, Sgn3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00814
Quality Score
Status
Chromosome 5
Chromosomal Location 138159364-138162246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 138161640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 58 (R58L)
Ref Sequence ENSEMBL: ENSMUSP00000121554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000110951] [ENSMUST00000132639] [ENSMUST00000148879]
AlphaFold O88545
Predicted Effect probably benign
Transcript: ENSMUST00000000505
SMART Domains Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 1e-41 BLAST
MCM 145 642 N/A SMART
AAA 373 526 2.9e-4 SMART
Blast:MCM 658 719 1e-32 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000019638
AA Change: R231L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: R231L

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
JAB_MPN 37 170 9.73e-35 SMART
Pfam:MitMem_reg 191 304 1.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083593
Predicted Effect probably damaging
Transcript: ENSMUST00000110951
AA Change: R204L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
AA Change: R204L

DomainStartEndE-ValueType
JAB_MPN 10 143 9.73e-35 SMART
Pfam:MitMem_reg 163 279 2.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125316
Predicted Effect probably damaging
Transcript: ENSMUST00000132639
AA Change: R58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494
AA Change: R58L

DomainStartEndE-ValueType
Pfam:MitMem_reg 17 112 3.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142254
Predicted Effect probably benign
Transcript: ENSMUST00000148879
SMART Domains Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 6e-44 BLAST
MCM 145 389 1.77e-15 SMART
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. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele or a transgenic gene disruption exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit increased sensitivity to irradiation and decreased incidence of ionizing radiation-induced tumors. [provided by MGI curators]
Allele List at MGI

All alleles(15) : Gene trapped(15)
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Elmo1 T A 13: 20,470,894 (GRCm39) M262K probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Gria4 A T 9: 4,472,202 (GRCm39) M429K probably damaging Het
Hipk2 G A 6: 38,795,484 (GRCm39) R262W probably damaging Het
Kif23 A T 9: 61,844,389 (GRCm39) I143K possibly damaging Het
Mbtd1 T A 11: 93,834,666 (GRCm39) S615T possibly damaging Het
Nlrp9c C T 7: 26,084,175 (GRCm39) S468N probably benign Het
Nt5c2 A T 19: 46,886,087 (GRCm39) D212E probably benign Het
Or52e19 A T 7: 102,959,014 (GRCm39) I29L probably benign Het
Pck2 T C 14: 55,785,756 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,516,721 (GRCm39) Q230R probably damaging Het
Pomk T C 8: 26,473,624 (GRCm39) T110A probably benign Het
Psg23 C T 7: 18,348,608 (GRCm39) W66* probably null Het
Rnf144b T C 13: 47,373,964 (GRCm39) probably benign Het
Sppl2c G A 11: 104,077,805 (GRCm39) G202S possibly damaging Het
Thnsl2 A C 6: 71,116,867 (GRCm39) L95R probably damaging Het
Ttn A G 2: 76,637,511 (GRCm39) V12248A probably benign Het
Other mutations in Cops6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Cops6 APN 5 138,159,648 (GRCm39) start codon destroyed probably null 0.02
IGL01122:Cops6 APN 5 138,160,635 (GRCm39) missense probably benign 0.42
IGL02652:Cops6 APN 5 138,159,700 (GRCm39) splice site probably null
R0593:Cops6 UTSW 5 138,161,842 (GRCm39) missense probably benign 0.18
R2271:Cops6 UTSW 5 138,159,403 (GRCm39) missense probably benign 0.00
R5011:Cops6 UTSW 5 138,160,459 (GRCm39) missense probably benign 0.00
R5294:Cops6 UTSW 5 138,159,378 (GRCm39) unclassified probably benign
R5394:Cops6 UTSW 5 138,161,762 (GRCm39) splice site probably null
R6225:Cops6 UTSW 5 138,159,673 (GRCm39) missense possibly damaging 0.91
R6526:Cops6 UTSW 5 138,162,162 (GRCm39) splice site probably null
R6943:Cops6 UTSW 5 138,161,790 (GRCm39) missense probably benign 0.43
R7242:Cops6 UTSW 5 138,161,842 (GRCm39) missense probably benign 0.18
R8692:Cops6 UTSW 5 138,162,083 (GRCm39) missense probably benign 0.06
Posted On 2012-12-06