Incidental Mutation 'R1162:Cops4'
ID 100456
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 039235-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1162 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 100678023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045993] [ENSMUST00000123069] [ENSMUST00000123492] [ENSMUST00000146476] [ENSMUST00000151414]
AlphaFold O88544
Predicted Effect probably benign
Transcript: ENSMUST00000045993
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,206,875 (GRCm39) probably null Het
Adamts12 T A 15: 11,277,544 (GRCm39) probably null Het
Ccn3 T A 15: 54,611,178 (GRCm39) C104* probably null Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dgkh A G 14: 78,861,891 (GRCm39) C125R probably damaging Het
Dgkz A T 2: 91,774,789 (GRCm39) I65N probably damaging Het
Dock10 T A 1: 80,546,559 (GRCm39) H743L possibly damaging Het
Dscaml1 T C 9: 45,663,647 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gbe1 A T 16: 70,178,738 (GRCm39) probably benign Het
Gm7275 A G 16: 47,894,395 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 35,002,905 (GRCm39) probably benign Het
Gpr137c A G 14: 45,481,615 (GRCm39) I144V possibly damaging Het
Igsf9b T C 9: 27,238,185 (GRCm39) S563P probably benign Het
Insl5 C T 4: 102,875,438 (GRCm39) R104Q probably benign Het
Kcnj2 T A 11: 110,963,793 (GRCm39) V395D probably benign Het
Ksr2 A G 5: 117,693,020 (GRCm39) probably benign Het
Lrrc4 C A 6: 28,831,083 (GRCm39) L177F probably damaging Het
Mapkbp1 A G 2: 119,855,799 (GRCm39) E1506G possibly damaging Het
Morc3 A C 16: 93,649,996 (GRCm39) Y259S probably damaging Het
Mrpl43 T G 19: 44,994,797 (GRCm39) S13R possibly damaging Het
Myh4 A G 11: 67,149,439 (GRCm39) N1724D probably damaging Het
Nab1 A G 1: 52,529,186 (GRCm39) M237T probably damaging Het
Nav2 A G 7: 49,185,788 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2h15 A T 17: 38,441,984 (GRCm39) V33D possibly damaging Het
Or5ac15 T C 16: 58,939,735 (GRCm39) R233G probably damaging Het
Or5p80 A G 7: 108,230,120 (GRCm39) N307S probably benign Het
Phf2 A T 13: 48,973,117 (GRCm39) probably benign Het
Ppef2 A C 5: 92,400,980 (GRCm39) F13L probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Sap130 C T 18: 31,781,226 (GRCm39) P130S probably damaging Het
Scn11a A G 9: 119,634,710 (GRCm39) probably benign Het
Sec31b C A 19: 44,506,087 (GRCm39) E940* probably null Het
Sgce A G 6: 4,691,419 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,600 (GRCm39) I155N probably damaging Het
Sirt2 A T 7: 28,485,247 (GRCm39) D218V probably damaging Het
Slc16a10 T C 10: 39,952,549 (GRCm39) H315R probably benign Het
Sox5 A G 6: 143,906,538 (GRCm39) Y306H probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tab2 A G 10: 7,800,483 (GRCm39) V23A probably damaging Het
Trak1 G T 9: 121,282,407 (GRCm39) V429F possibly damaging Het
Trat1 T C 16: 48,560,572 (GRCm39) S102G possibly damaging Het
Trub1 G A 19: 57,461,191 (GRCm39) V156I probably benign Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Unc13a T A 8: 72,100,561 (GRCm39) T1076S probably benign Het
Vangl2 A G 1: 171,832,414 (GRCm39) Y481H probably damaging Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r60 A T 7: 41,845,195 (GRCm39) I853F probably benign Het
Yrdc T C 4: 124,748,254 (GRCm39) probably benign Het
Zfp595 A T 13: 67,465,259 (GRCm39) C335S probably damaging Het
Zfp872 A G 9: 22,110,910 (GRCm39) S149G possibly damaging 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
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
Posted On 2014-01-15