Incidental Mutation 'IGL02141:Cops5'
ID281554
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 #IGL02141
Quality Score
Status
Chromosome1
Chromosomal Location10024601-10038168 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10035117 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 47 (K47E)
Ref Sequence ENSEMBL: ENSMUSP00000140115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000071087] [ENSMUST00000117415] [ENSMUST00000118263] [ENSMUST00000119714] [ENSMUST00000122156] [ENSMUST00000186528] [ENSMUST00000188619] [ENSMUST00000191012]
Predicted Effect probably damaging
Transcript: ENSMUST00000027050
AA Change: K64E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: K64E

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 probably benign
Transcript: ENSMUST00000118263
SMART Domains Protein: ENSMUSP00000112476
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 probably benign
Transcript: ENSMUST00000119714
SMART Domains Protein: ENSMUSP00000114091
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 probably benign
Transcript: ENSMUST00000122156
SMART Domains Protein: ENSMUSP00000113663
Gene: ENSMUSG00000056763

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 278 293 N/A INTRINSIC
low complexity region 303 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134716
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: K47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: K47E

DomainStartEndE-ValueType
JAB_MPN 37 174 5.3e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190063
Predicted Effect unknown
Transcript: ENSMUST00000190155
AA Change: K4E
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191521
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gimap3 T C 6: 48,765,378 E206G probably benign Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lonp1 A T 17: 56,615,086 S765T probably benign Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Mroh1 G T 15: 76,446,599 S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Pole4 T C 6: 82,648,034 T116A probably benign Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Cops5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cops5 APN 1 10034070 missense probably damaging 1.00
IGL01759:Cops5 APN 1 10027249 missense probably damaging 0.99
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 On2015-04-16