Incidental Mutation 'R0011:Cops4'
ID 63212
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R0011 (G1)
Quality Score 164
Status Not validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100675847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 28 (Q28K)
Ref Sequence ENSEMBL: ENSMUSP00000048416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045993] [ENSMUST00000123069] [ENSMUST00000123492] [ENSMUST00000146476] [ENSMUST00000151414]
AlphaFold O88544
PDB Structure Solution structure of the PCI domain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000045993
AA Change: Q28K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: Q28K

DomainStartEndE-ValueType
PINT 295 377 2.09e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123069
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
Predicted Effect probably benign
Transcript: ENSMUST00000146476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147729
Predicted Effect probably benign
Transcript: ENSMUST00000151414
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Tnfrsf1b T G 4: 144,949,536 (GRCm39) R297S possibly damaging Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign 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
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
R7390:Cops4 UTSW 5 100,691,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGTTCAGttctcttgctgctagaaaa -3'
(R):5'- AGGCAAAGCACAGAGCATCTGTATAAA -3'

Sequencing Primer
(F):5'- gaaaataccctgacaagccac -3'
(R):5'- CCAACTATGAGTGGCTAAAAGC -3'
Posted On 2013-07-30