Incidental Mutation 'IGL01759:Cops5'
ID 153511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops5
Ensembl Gene ENSMUSG00000025917
Gene Name COP9 signalosome subunit 5
Synonyms COP9 complex S5, CSN5, Sgn5, JUN activation binding protein, Jab1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01759
Quality Score
Status
Chromosome 1
Chromosomal Location 10094825-10108384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10097474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 258 (N258K)
Ref Sequence ENSEMBL: ENSMUSP00000027050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000186528] [ENSMUST00000188619]
AlphaFold O35864
Predicted Effect probably damaging
Transcript: ENSMUST00000027050
AA Change: N258K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: N258K

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 noncoding transcript
Transcript: ENSMUST00000139578
Predicted Effect probably benign
Transcript: ENSMUST00000186528
Predicted Effect probably benign
Transcript: ENSMUST00000188619
SMART Domains Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917

DomainStartEndE-ValueType
JAB_MPN 37 174 5.3e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190155
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Jakmip3 A T 7: 138,622,633 (GRCm39) Q331L probably damaging Het
Kif5b A G 18: 6,225,647 (GRCm39) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm39) probably benign Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,207,798 (GRCm39) F307S unknown Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Tmem219 G A 7: 126,496,310 (GRCm39) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Zhx3 T C 2: 160,622,634 (GRCm39) N511S probably damaging Het
Other mutations in Cops5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cops5 APN 1 10,104,295 (GRCm39) missense probably damaging 1.00
IGL02141:Cops5 APN 1 10,105,342 (GRCm39) missense probably damaging 1.00
IGL02492:Cops5 APN 1 10,097,377 (GRCm39) missense probably benign
R1491:Cops5 UTSW 1 10,104,243 (GRCm39) missense possibly damaging 0.88
R2055:Cops5 UTSW 1 10,102,562 (GRCm39) critical splice donor site probably null
R4163:Cops5 UTSW 1 10,100,912 (GRCm39) missense probably damaging 1.00
R5945:Cops5 UTSW 1 10,108,235 (GRCm39) utr 5 prime probably benign
R6295:Cops5 UTSW 1 10,100,920 (GRCm39) utr 3 prime probably benign
R6419:Cops5 UTSW 1 10,103,532 (GRCm39) missense probably damaging 1.00
R6487:Cops5 UTSW 1 10,108,004 (GRCm39) missense probably benign 0.13
R6817:Cops5 UTSW 1 10,100,829 (GRCm39) missense probably benign 0.03
R7012:Cops5 UTSW 1 10,100,890 (GRCm39) makesense probably null
R9588:Cops5 UTSW 1 10,108,222 (GRCm39) missense unknown
Posted On 2014-02-04