Incidental Mutation 'R7390:Cops4'
ID 573354
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 045472-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7390 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100691741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 347 (R347C)
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 probably damaging
Transcript: ENSMUST00000045993
AA Change: R347C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: R347C

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
Meta Mutation Damage Score 0.9578 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,992,152 (GRCm39) D291E probably benign Het
Abca9 C T 11: 110,036,487 (GRCm39) V541I probably benign Het
Adamts15 A T 9: 30,822,404 (GRCm39) probably null Het
Adgrg7 A G 16: 56,553,207 (GRCm39) I630T probably damaging Het
Ahnak A G 19: 8,980,569 (GRCm39) I618V probably benign Het
Amotl2 T A 9: 102,608,889 (GRCm39) V801E probably damaging Het
Ankrd17 T C 5: 90,430,779 (GRCm39) T1002A probably benign Het
Bmp7 C T 2: 172,711,998 (GRCm39) D409N probably damaging Het
Bpifb2 A G 2: 153,731,726 (GRCm39) N293S possibly damaging Het
Ccdc162 A G 10: 41,510,044 (GRCm39) C854R probably benign Het
Ccdc171 A G 4: 83,736,304 (GRCm39) E1225G probably damaging Het
Cep350 T C 1: 155,741,833 (GRCm39) E2146G possibly damaging Het
Ces1a A C 8: 93,771,469 (GRCm39) probably null Het
Cfap45 T G 1: 172,368,925 (GRCm39) D444E probably benign Het
Cfap61 T C 2: 145,843,802 (GRCm39) V296A probably benign Het
Cgnl1 C T 9: 71,552,931 (GRCm39) R1011H probably benign Het
D16Ertd472e G T 16: 78,344,576 (GRCm39) D177E probably benign Het
Dcdc2a T C 13: 25,291,600 (GRCm39) V195A possibly damaging Het
Dipk2a A G 9: 94,419,436 (GRCm39) S165P probably damaging Het
Dpagt1 G A 9: 44,243,319 (GRCm39) V285I probably benign Het
Dspp G T 5: 104,323,552 (GRCm39) A232S probably damaging Het
Efcab3 T C 11: 104,615,411 (GRCm39) I726T possibly damaging Het
Ephx2 G A 14: 66,347,904 (GRCm39) Het
Fat1 T C 8: 45,405,511 (GRCm39) V754A possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Gldc A T 19: 30,077,314 (GRCm39) S953T possibly damaging Het
Gm1123 T C 9: 98,893,033 (GRCm39) N315S probably benign Het
Golga2 A G 2: 32,178,202 (GRCm39) E37G Het
Gpr139 T A 7: 118,743,835 (GRCm39) Q250L probably benign Het
Grik3 C T 4: 125,543,532 (GRCm39) R283C probably damaging Het
Haao A C 17: 84,154,081 (GRCm39) V22G probably damaging Het
Hspg2 T A 4: 137,266,490 (GRCm39) F1884I probably damaging Het
Hyal3 G A 9: 107,462,166 (GRCm39) G67S probably damaging Het
Kbtbd3 T A 9: 4,330,424 (GRCm39) I266K probably benign Het
Klhl26 A C 8: 70,905,499 (GRCm39) L137R probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lars1 A G 18: 42,343,083 (GRCm39) probably null Het
Lats1 C T 10: 7,577,859 (GRCm39) Q328* probably null Het
Lingo3 G A 10: 80,670,463 (GRCm39) T489I probably damaging Het
Lmtk2 T C 5: 144,066,261 (GRCm39) V65A possibly damaging Het
Lysmd1 T C 3: 95,045,795 (GRCm39) S211P probably damaging Het
Med15 C T 16: 17,540,626 (GRCm39) S21N unknown Het
Nav1 T C 1: 135,512,656 (GRCm39) T135A probably benign Het
Nt5c1a G C 4: 123,102,272 (GRCm39) R66T probably benign Het
Pclo T C 5: 14,732,024 (GRCm39) Y3509H unknown Het
Pkp4 G A 2: 59,140,484 (GRCm39) G397R possibly damaging Het
Ppp1r21 G A 17: 88,856,958 (GRCm39) A138T probably benign Het
Pum3 A T 19: 27,401,642 (GRCm39) V136D probably benign Het
Rab11fip3 A T 17: 26,287,126 (GRCm39) D342E possibly damaging Het
Rcvrn T A 11: 67,590,883 (GRCm39) W156R probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Serpina1d T C 12: 103,734,037 (GRCm39) D89G possibly damaging Het
Sgsm3 T A 15: 80,893,021 (GRCm39) V366E possibly damaging Het
Shank3 T G 15: 89,433,515 (GRCm39) L1420R probably benign Het
Sirpb1b A T 3: 15,608,100 (GRCm39) L215* probably null Het
Slc16a13 C T 11: 70,109,797 (GRCm39) V235I probably benign Het
Slc16a14 T C 1: 84,907,187 (GRCm39) D29G probably benign Het
Speer1a T C 5: 11,394,879 (GRCm39) V122A probably benign Het
Spns2 T A 11: 72,347,704 (GRCm39) T329S possibly damaging Het
Sufu G A 19: 46,439,108 (GRCm39) probably null Het
Tll2 A G 19: 41,108,608 (GRCm39) probably null Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Trim42 A C 9: 97,241,182 (GRCm39) N683K probably damaging Het
Trmt5 A G 12: 73,328,394 (GRCm39) S270P probably damaging Het
Vmn1r59 C A 7: 5,456,986 (GRCm39) R258L possibly damaging Het
Vmn2r32 A G 7: 7,482,851 (GRCm39) L41S probably benign Het
Vmn2r93 A T 17: 18,525,329 (GRCm39) E329V probably damaging Het
Ywhae G T 11: 75,655,487 (GRCm39) E253* 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
R6010:Cops4 UTSW 5 100,691,776 (GRCm39) missense possibly damaging 0.63
R6026:Cops4 UTSW 5 100,690,194 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGGATTCTTGTCTAGCCAGTC -3'
(R):5'- TTCCTTTGGACATATGCTCACG -3'

Sequencing Primer
(F):5'- CTGTATTCCTAGCACTTGAAGGAG -3'
(R):5'- CTTTGGACATATGCTCACGAGGAAC -3'
Posted On 2019-09-13