Incidental Mutation 'R6295:Cops5'
ID 527939
Institutional Source Beutler Lab
Gene Symbol Cops5
Ensembl Gene ENSMUSG00000025917
Gene Name COP9 signalosome subunit 5
Synonyms COP9 complex S5, CSN5, Sgn5, JUN activation binding protein, Jab1
MMRRC Submission 044463-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6295 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 10094825-10108384 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 10100920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000186528] [ENSMUST00000188619]
AlphaFold O35864
Predicted Effect silent
Transcript: ENSMUST00000027050
SMART Domains Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917

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 noncoding transcript
Transcript: ENSMUST00000150509
Predicted Effect probably benign
Transcript: ENSMUST00000186528
Predicted Effect silent
Transcript: ENSMUST00000188619
SMART Domains Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917

DomainStartEndE-ValueType
JAB_MPN 37 174 5.3e-55 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190155
AA Change: S137G
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,838,379 (GRCm39) V1061G probably damaging Het
Acap1 A G 11: 69,781,413 (GRCm39) probably null Het
Apbb1 A G 7: 105,215,902 (GRCm39) F112L probably benign Het
Atg9a A G 1: 75,161,702 (GRCm39) S615P probably benign Het
Atp8a2 G A 14: 60,249,848 (GRCm39) R548* probably null Het
Bbof1 A T 12: 84,457,942 (GRCm39) N69I possibly damaging Het
Bcl2l14 T A 6: 134,404,370 (GRCm39) V186D probably benign Het
Bmp1 T G 14: 70,728,823 (GRCm39) Y583S possibly damaging Het
Boc A C 16: 44,312,711 (GRCm39) S586R probably benign Het
Btbd9 A T 17: 30,518,710 (GRCm39) probably null Het
Cacna1e T C 1: 154,317,919 (GRCm39) M1180V probably damaging Het
Ciao1 T C 2: 127,088,376 (GRCm39) H149R probably damaging Het
Doc2b C T 11: 75,671,093 (GRCm39) R209Q probably damaging Het
Doc2b T C 11: 75,686,451 (GRCm39) Y90C probably benign Het
Ep400 A G 5: 110,901,675 (GRCm39) F481L probably benign Het
Fat4 T A 3: 39,061,229 (GRCm39) probably null Het
Fbxw16 T A 9: 109,277,837 (GRCm39) probably benign Het
Fbxw27 T C 9: 109,601,154 (GRCm39) E17G possibly damaging Het
Gm29735 G A 7: 141,710,367 (GRCm39) P162S unknown Het
Gypa T G 8: 81,222,969 (GRCm39) S24R unknown Het
Hdhd5 T C 6: 120,495,485 (GRCm39) N153D probably benign Het
Ibsp C A 5: 104,449,987 (GRCm39) probably null Het
Klhdc3 C T 17: 46,988,972 (GRCm39) V73I probably benign Het
Lrrc37a T C 11: 103,388,459 (GRCm39) E2322G unknown Het
Lrrtm3 T C 10: 63,765,913 (GRCm39) H558R probably benign Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mphosph9 A G 5: 124,458,978 (GRCm39) V64A possibly damaging Het
Nthl1 C T 17: 24,857,475 (GRCm39) R251C probably damaging Het
Numa1 G A 7: 101,649,974 (GRCm39) R1235H probably benign Het
Opn1sw T A 6: 29,379,413 (GRCm39) Y197F possibly damaging Het
Or10a3m T C 7: 108,312,845 (GRCm39) V95A probably damaging Het
Pcca A T 14: 122,896,187 (GRCm39) I268F probably benign Het
Per2 A T 1: 91,377,594 (GRCm39) D76E unknown Het
Pfas T C 11: 68,888,825 (GRCm39) N374S probably benign Het
Pomk C A 8: 26,472,955 (GRCm39) V333F probably damaging Het
Ptgfr T C 3: 151,540,926 (GRCm39) E194G probably benign Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Pyroxd1 T C 6: 142,300,479 (GRCm39) I203T probably benign Het
Rgs22 T C 15: 36,087,520 (GRCm39) N466S probably benign Het
Rpl3l G A 17: 24,952,966 (GRCm39) V309I probably benign Het
Rtkn2 C T 10: 67,815,529 (GRCm39) probably benign Het
Sec16a C T 2: 26,318,253 (GRCm39) A1613T probably damaging Het
Sis T A 3: 72,874,103 (GRCm39) T33S probably damaging Het
Slc22a4 C A 11: 53,898,634 (GRCm39) V153F possibly damaging Het
Stxbp1 C G 2: 32,684,621 (GRCm39) E603Q probably damaging Het
Tiam2 A G 17: 3,559,831 (GRCm39) S1291G probably damaging Het
Tmem94 T A 11: 115,687,572 (GRCm39) L1144M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Vmn1r201 T C 13: 22,659,533 (GRCm39) V249A probably benign Het
Wdr7 T A 18: 63,888,182 (GRCm39) C552S probably damaging Het
Other mutations in Cops5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cops5 APN 1 10,104,295 (GRCm39) missense probably damaging 1.00
IGL01759:Cops5 APN 1 10,097,474 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ACACTCAAGGCCCTGAAGTC -3'
(R):5'- GACAGATTTAGAGCCATACCACTTG -3'

Sequencing Primer
(F):5'- AGCCTGACAACCTGAGTTTG -3'
(R):5'- GGTGTAGAGAAAACTTCTATCCA -3'
Posted On 2018-07-23