Incidental Mutation 'R4943:Cops4'
ID 383253
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 042540-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4943 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100695292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 404 (M404L)
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 benign
Transcript: ENSMUST00000045993
AA Change: M404L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: M404L

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 0.1089 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 99% (81/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,393,446 (GRCm39) T366K possibly damaging Het
2510039O18Rik T A 4: 148,029,555 (GRCm39) H508Q probably damaging Het
Aadacl4fm5 T A 4: 144,504,290 (GRCm39) E287V probably benign Het
Actl9 G A 17: 33,652,059 (GRCm39) V40M possibly damaging Het
Aen T A 7: 78,552,109 (GRCm39) V23E probably damaging Het
Agbl1 G A 7: 76,069,764 (GRCm39) R432K probably benign Het
Akap13 T A 7: 75,398,988 (GRCm39) F2689I probably benign Het
Arhgap45 A G 10: 79,862,337 (GRCm39) S475G probably benign Het
Atg7 A C 6: 114,674,045 (GRCm39) Q231P probably benign Het
Calr3 A T 8: 73,185,221 (GRCm39) V226D probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cpne4 A T 9: 104,896,972 (GRCm39) H375L probably damaging Het
D16Ertd472e A T 16: 78,372,877 (GRCm39) V20D probably damaging Het
Dcun1d5 T C 9: 7,186,844 (GRCm39) F55L possibly damaging Het
Dhx8 T A 11: 101,628,526 (GRCm39) L93* probably null Het
Dtx4 A G 19: 12,478,424 (GRCm39) L53P probably damaging Het
Ern2 C T 7: 121,772,481 (GRCm39) R659H possibly damaging Het
Etl4 G A 2: 20,812,092 (GRCm39) A1392T probably benign Het
Fat2 T C 11: 55,169,859 (GRCm39) R2967G probably benign Het
Fat4 A G 3: 39,034,322 (GRCm39) D2658G probably benign Het
Ftsj3 A G 11: 106,140,344 (GRCm39) V808A probably damaging Het
Gm10447 A T 11: 53,347,216 (GRCm39) Y104* probably null Het
Gm27013 A T 6: 130,653,163 (GRCm39) C766* probably null Het
Gm5581 A G 6: 131,144,088 (GRCm39) noncoding transcript Het
Gpr158 G A 2: 21,831,968 (GRCm39) V1023I probably damaging Het
Hectd2 T G 19: 36,581,647 (GRCm39) probably null Het
Hmcn2 T C 2: 31,225,504 (GRCm39) Y138H probably damaging Het
Kif28 T C 1: 179,541,516 (GRCm39) I369V probably benign Het
Kif4-ps C T 12: 101,115,476 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map3k20 G A 2: 72,202,262 (GRCm39) M164I possibly damaging Het
Map4k4 A G 1: 40,058,754 (GRCm39) I1050V probably damaging Het
Med23 T A 10: 24,751,567 (GRCm39) V133D possibly damaging Het
Mycn A T 12: 12,987,080 (GRCm39) L439Q probably damaging Het
Myh2 G T 11: 67,088,143 (GRCm39) A1920S probably damaging Het
Myom3 T C 4: 135,541,585 (GRCm39) V1392A possibly damaging Het
Nktr T A 9: 121,549,020 (GRCm39) probably benign Het
Nme3 A G 17: 25,115,697 (GRCm39) K48E probably damaging Het
Nt5dc1 T C 10: 34,186,387 (GRCm39) R58G probably damaging Het
Nup205 A G 6: 35,201,574 (GRCm39) E1270G probably damaging Het
Or12d16-ps1 G T 17: 37,705,916 (GRCm39) A162S probably benign Het
Or4e2 C G 14: 52,688,051 (GRCm39) Y60* probably null Het
Or51l4 A T 7: 103,404,503 (GRCm39) F96L probably benign Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pclo T C 5: 14,762,651 (GRCm39) L3708P unknown Het
Pde4dip A T 3: 97,662,827 (GRCm39) N590K probably damaging Het
Prokr1 A C 6: 87,558,806 (GRCm39) I193S possibly damaging Het
Pxdc1 C A 13: 34,822,989 (GRCm39) probably null Het
Rapgef2 A T 3: 78,971,854 (GRCm39) S1494T probably benign Het
Rbms3 G C 9: 116,507,573 (GRCm39) probably benign Het
Reep3 T A 10: 66,932,042 (GRCm39) probably benign Het
Rwdd2b T C 16: 87,231,422 (GRCm39) K244R possibly damaging Het
Srrm2 T C 17: 24,041,389 (GRCm39) V2533A possibly damaging Het
Stab2 T C 10: 86,790,026 (GRCm39) Y580C probably damaging Het
Stac2 G T 11: 97,932,398 (GRCm39) S198R probably benign Het
Tdp2 T A 13: 25,022,248 (GRCm39) N222K probably benign Het
Tex21 A G 12: 76,268,474 (GRCm39) S103P probably damaging Het
Thbs1 A T 2: 117,943,930 (GRCm39) I183F probably damaging Het
Tm9sf1 T C 14: 55,878,625 (GRCm39) I256V probably damaging Het
Tmem207 C T 16: 26,336,603 (GRCm39) W50* probably null Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Vmn1r227 A T 17: 20,955,623 (GRCm39) noncoding transcript Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r75 A T 7: 85,814,705 (GRCm39) S263T probably damaging Het
Wdr64 G A 1: 175,547,882 (GRCm39) V140I probably benign Het
Xpo4 T C 14: 57,875,697 (GRCm39) I145M possibly damaging Het
Zan G A 5: 137,456,152 (GRCm39) T1336I unknown Het
Zdbf2 G T 1: 63,342,073 (GRCm39) V151F possibly damaging Het
Zfhx3 T C 8: 109,674,949 (GRCm39) S2000P probably damaging Het
Zfp65 T A 13: 67,859,099 (GRCm39) I12F probably damaging Het
Zfp703 C A 8: 27,469,619 (GRCm39) Q428K probably benign Het
Zfp947 A C 17: 22,364,813 (GRCm39) M287R probably benign Het
Zfp976 A T 7: 42,261,846 (GRCm39) 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
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
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'- AGTTCTTGCCAAGAGTCCCAG -3'
(R):5'- CGGGAGCTATTATGTTTAAACGATGC -3'

Sequencing Primer
(F):5'- TTCTTGCCAAGAGTCCCAGAATAAAC -3'
(R):5'- GCTATTATGTTTAAACGATGCACTTC -3'
Posted On 2016-04-27