Incidental Mutation 'IGL00468:Cops5'
ID7534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops5
Ensembl Gene ENSMUSG00000025917
Gene NameCOP9 signalosome subunit 5
SynonymsCSN5, JUN activation binding protein, Sgn5, Jab1, COP9 complex S5
Accession Numbers

Genbank: NM_013715; MGI: 1349415

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00468
Quality Score
Status
Chromosome1
Chromosomal Location10024601-10038168 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 10034070 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 132 (G132W)
Ref Sequence ENSEMBL: ENSMUSP00000140115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000071087] [ENSMUST00000117415] [ENSMUST00000186528] [ENSMUST00000188619] [ENSMUST00000191012]
Predicted Effect probably damaging
Transcript: ENSMUST00000027050
AA Change: G149W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: G149W

DomainStartEndE-ValueType
Blast:JAB_MPN 8 49 8e-12 BLAST
JAB_MPN 54 191 1.19e-52 SMART
Blast:JAB_MPN 192 249 5e-30 BLAST
low complexity region 250 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071087
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 270 285 N/A INTRINSIC
coiled coil region 349 383 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
low complexity region 465 484 N/A INTRINSIC
coiled coil region 568 610 N/A INTRINSIC
Pfam:CCDC66 661 810 2e-11 PFAM
coiled coil region 866 903 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117415
SMART Domains Protein: ENSMUSP00000112800
Gene: ENSMUSG00000056763

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 270 285 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150509
Predicted Effect probably benign
Transcript: ENSMUST00000186528
Predicted Effect probably damaging
Transcript: ENSMUST00000188619
AA Change: G132W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: G132W

DomainStartEndE-ValueType
JAB_MPN 37 174 5.3e-55 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190155
AA Change: G89W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190610
Predicted Effect probably benign
Transcript: ENSMUST00000191012
SMART Domains Protein: ENSMUSP00000140856
Gene: ENSMUSG00000056763

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191360
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 is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die soon after implantation and exhibit growth-retardation, decrease in cell proliferation, and an increase in cell apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(12)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Cops5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Cops5 APN 1 10027249 missense probably damaging 0.99
IGL02141:Cops5 APN 1 10035117 missense probably damaging 1.00
IGL02492:Cops5 APN 1 10027152 missense probably benign
R1491:Cops5 UTSW 1 10034018 missense possibly damaging 0.88
R2055:Cops5 UTSW 1 10032337 critical splice donor site probably null
R4163:Cops5 UTSW 1 10030687 missense probably damaging 1.00
R5945:Cops5 UTSW 1 10038010 utr 5 prime probably benign
R6295:Cops5 UTSW 1 10030695 utr 3 prime probably benign
R6419:Cops5 UTSW 1 10033307 missense probably damaging 1.00
R6487:Cops5 UTSW 1 10037779 missense probably benign 0.13
R6817:Cops5 UTSW 1 10030604 missense probably benign 0.03
R7012:Cops5 UTSW 1 10030665 makesense probably null
Posted On2012-04-20