Incidental Mutation 'R6010:Cops4'
ID 479700
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 044187-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6010 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100691776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 358 (I358M)
Ref Sequence ENSEMBL: ENSMUSP00000048416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045993] [ENSMUST00000123492]
AlphaFold O88544
PDB Structure Solution structure of the PCI domain [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045993
AA Change: I358M

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: I358M

DomainStartEndE-ValueType
PINT 295 377 2.09e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123492
SMART Domains Protein: ENSMUSP00000119737
Gene: ENSMUSG00000035297

DomainStartEndE-ValueType
Pfam:PCI 179 251 7.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123559
Meta Mutation Damage Score 0.6445 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight subunits composing 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI

All alleles(8) : Targeted, other(2) Gene trapped(6)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A G 4: 56,743,870 (GRCm39) I132M possibly damaging Het
Agap2 A T 10: 126,926,779 (GRCm39) I939F probably damaging Het
Ahctf1 A G 1: 179,623,378 (GRCm39) V80A possibly damaging Het
Atxn3 T C 12: 101,914,285 (GRCm39) D67G probably damaging Het
Avl9 G A 6: 56,730,375 (GRCm39) V573M possibly damaging Het
Baz1b G A 5: 135,246,305 (GRCm39) E585K possibly damaging Het
Brms1l T C 12: 55,914,985 (GRCm39) F298S possibly damaging Het
Camk2d G A 3: 126,591,363 (GRCm39) V278I possibly damaging Het
Car10 A G 11: 93,490,149 (GRCm39) I297V possibly damaging Het
Cfap65 C T 1: 74,962,190 (GRCm39) C677Y probably damaging Het
Cfap74 T A 4: 155,538,495 (GRCm39) D872E possibly damaging Het
Cgrrf1 A C 14: 47,091,158 (GRCm39) Q227H probably damaging Het
Chil4 A G 3: 106,121,711 (GRCm39) I46T probably damaging Het
Chpf2 A T 5: 24,796,917 (GRCm39) H621L probably damaging Het
Cluap1 C T 16: 3,755,437 (GRCm39) R351W possibly damaging Het
Cnot6 A T 11: 49,574,066 (GRCm39) Y201* probably null Het
Col15a1 T C 4: 47,245,630 (GRCm39) V127A probably benign Het
Col6a3 C T 1: 90,701,219 (GRCm39) V2566I unknown Het
Cope T A 8: 70,761,162 (GRCm39) M88K probably damaging Het
Coro7 T C 16: 4,487,820 (GRCm39) E130G possibly damaging Het
Csrp3 A G 7: 48,485,213 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,701,160 (GRCm39) F217L probably damaging Het
Dmac1 A G 4: 75,196,473 (GRCm39) S6P unknown Het
Drd4 A T 7: 140,874,709 (GRCm39) I367F probably damaging Het
Efcc1 T A 6: 87,730,711 (GRCm39) probably null Het
Emid1 A T 11: 5,085,389 (GRCm39) M119K possibly damaging Het
Fbn2 C T 18: 58,202,596 (GRCm39) D1237N probably benign Het
Fbxl18 C A 5: 142,858,153 (GRCm39) R761L probably damaging Het
Gbp10 A C 5: 105,372,205 (GRCm39) L185R probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gucd1 G T 10: 75,256,600 (GRCm39) probably benign Het
Helb G A 10: 119,941,788 (GRCm39) T300M probably damaging Het
Ifna11 A T 4: 88,738,278 (GRCm39) H28L probably benign Het
Kalrn T A 16: 33,830,950 (GRCm39) N723I probably benign Het
Kcnb2 C T 1: 15,780,790 (GRCm39) S554F possibly damaging Het
Med1 A C 11: 98,049,188 (GRCm39) V536G probably damaging Het
Nanog A C 6: 122,690,255 (GRCm39) N195T probably benign Het
Neu1 C T 17: 35,151,031 (GRCm39) S94F probably damaging Het
Nop58 T A 1: 59,740,071 (GRCm39) S154R probably damaging Het
Npl A T 1: 153,388,314 (GRCm39) L239* probably null Het
Nrg1 G A 8: 32,308,600 (GRCm39) T483M probably damaging Het
Nup98 G T 7: 101,829,636 (GRCm39) F391L probably damaging Het
Or4c122 A T 2: 89,079,087 (GRCm39) I305K probably benign Het
Or5ar1 T C 2: 85,671,905 (GRCm39) I77V probably benign Het
Or5d47 A T 2: 87,804,886 (GRCm39) V41E probably damaging Het
Or5g26 T C 2: 85,494,374 (GRCm39) I135V probably benign Het
Pacsin2 A G 15: 83,266,020 (GRCm39) V59A possibly damaging Het
Pcsk9 C T 4: 106,311,469 (GRCm39) R254H possibly damaging Het
Pierce2 A T 9: 72,887,488 (GRCm39) probably null Het
Psme2 C A 14: 55,824,980 (GRCm39) probably null Het
Ptprc T A 1: 138,028,794 (GRCm39) H468L probably benign Het
Rbp3 T A 14: 33,676,604 (GRCm39) I184N probably damaging Het
Serpinb1c A G 13: 33,066,042 (GRCm39) L301P probably damaging Het
Smim6 G T 11: 115,804,219 (GRCm39) G2V probably damaging Het
Snrpb2 A G 2: 142,912,815 (GRCm39) D146G possibly damaging Het
Svep1 T A 4: 58,115,832 (GRCm39) S954C possibly damaging Het
Telo2 G T 17: 25,323,852 (GRCm39) T568N possibly damaging Het
Tpp2 T C 1: 43,990,373 (GRCm39) probably null Het
Upf1 A G 8: 70,789,675 (GRCm39) V720A probably damaging Het
Vmn1r81 T C 7: 11,994,349 (GRCm39) I86M possibly damaging Het
Vps8 T A 16: 21,363,955 (GRCm39) probably benign Het
Wdr70 T C 15: 7,916,900 (GRCm39) probably null Het
Zfp385c A T 11: 100,548,363 (GRCm39) S30T probably benign Het
Zfp607a T A 7: 27,577,254 (GRCm39) L108* probably null Het
Other mutations in Cops4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Cops4 APN 5 100,681,421 (GRCm39) missense probably damaging 1.00
IGL02152:Cops4 APN 5 100,681,456 (GRCm39) missense probably benign 0.20
R0011:Cops4 UTSW 5 100,675,847 (GRCm39) missense probably benign
R0011:Cops4 UTSW 5 100,675,847 (GRCm39) missense probably benign
R0326:Cops4 UTSW 5 100,676,408 (GRCm39) missense probably damaging 0.99
R0494:Cops4 UTSW 5 100,676,528 (GRCm39) missense probably damaging 0.97
R0639:Cops4 UTSW 5 100,685,326 (GRCm39) missense possibly damaging 0.48
R1162:Cops4 UTSW 5 100,678,023 (GRCm39) splice site probably benign
R1400:Cops4 UTSW 5 100,681,412 (GRCm39) missense probably damaging 1.00
R4209:Cops4 UTSW 5 100,695,352 (GRCm39) unclassified probably benign
R4943:Cops4 UTSW 5 100,695,292 (GRCm39) missense probably benign 0.00
R5244:Cops4 UTSW 5 100,681,241 (GRCm39) missense probably benign 0.00
R5350:Cops4 UTSW 5 100,666,405 (GRCm39) missense possibly damaging 0.81
R5855:Cops4 UTSW 5 100,695,280 (GRCm39) missense probably benign
R6026:Cops4 UTSW 5 100,690,194 (GRCm39) unclassified probably benign
R7390:Cops4 UTSW 5 100,691,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAACAAGTGACAGGCAAGC -3'
(R):5'- TTGGAGTTCAACGAAGGTCAG -3'

Sequencing Primer
(F):5'- TGACAGGCAAGCACAGTAGC -3'
(R):5'- AGTTCAACGAAGGTCAGATGAC -3'
Posted On 2017-06-26