Incidental Mutation 'R4540:Cops3'
ID 333502
Institutional Source Beutler Lab
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene Name COP9 signalosome subunit 3
Synonyms COP9 complex S3, Csn3, Sgn3
MMRRC Submission 041776-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4540 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59708621-59730664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59720980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 145 (L145H)
Ref Sequence ENSEMBL: ENSMUSP00000019517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019517] [ENSMUST00000141415]
AlphaFold O88543
Predicted Effect probably damaging
Transcript: ENSMUST00000019517
AA Change: L145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: L145H

PINT 293 383 1.16e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136901
Predicted Effect probably benign
Transcript: ENSMUST00000141415
Predicted Effect probably benign
Transcript: ENSMUST00000156837
SMART Domains Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373

SCOP:d1ihga1 55 132 6e-4 SMART
Blast:PINT 216 244 4e-10 BLAST
Meta Mutation Damage Score 0.4914 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,508,119 (GRCm39) H164L probably damaging Het
Arrdc3 C A 13: 81,038,790 (GRCm39) R31S possibly damaging Het
Baiap3 C T 17: 25,465,644 (GRCm39) V585M probably damaging Het
Braf A G 6: 39,621,267 (GRCm39) S391P probably damaging Het
Ccdc51 T C 9: 108,921,288 (GRCm39) F392L possibly damaging Het
Cd1d1 A G 3: 86,904,012 (GRCm39) I194T probably benign Het
Cep162 T C 9: 87,094,992 (GRCm39) K806E probably damaging Het
Cntn4 A G 6: 106,652,709 (GRCm39) E726G probably damaging Het
Col11a1 A G 3: 113,890,815 (GRCm39) Y384C unknown Het
Cul9 C T 17: 46,814,015 (GRCm39) M2286I probably null Het
Echdc1 G A 10: 29,220,578 (GRCm39) V245I probably benign Het
Fsip2 A T 2: 82,782,009 (GRCm39) M261L probably benign Het
Gm4353 A G 7: 115,683,212 (GRCm39) L123P probably benign Het
Hcfc2 G C 10: 82,568,481 (GRCm39) E42Q probably benign Het
Hfm1 A C 5: 107,022,087 (GRCm39) Y199* probably null Het
Iba57 G A 11: 59,053,904 (GRCm39) probably benign Het
Ihh T A 1: 74,987,558 (GRCm39) N161I possibly damaging Het
Kcnh7 A G 2: 62,569,530 (GRCm39) S789P probably damaging Het
Kndc1 C A 7: 139,501,343 (GRCm39) C877* probably null Het
Lhcgr A G 17: 89,063,036 (GRCm39) I212T probably benign Het
Lrrtm2 T A 18: 35,346,199 (GRCm39) T368S probably benign Het
Mag A C 7: 30,600,154 (GRCm39) V500G probably damaging Het
Nadsyn1 A G 7: 143,356,960 (GRCm39) V512A probably damaging Het
Nlrp3 G A 11: 59,442,725 (GRCm39) C759Y possibly damaging Het
Nup107 T C 10: 117,597,925 (GRCm39) probably null Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or4f56 T C 2: 111,703,546 (GRCm39) Y218C probably damaging Het
Pcdha1 A C 18: 37,064,680 (GRCm39) D448A probably damaging Het
Pitrm1 T A 13: 6,605,506 (GRCm39) probably null Het
Pth2r A G 1: 65,321,360 (GRCm39) N13S probably benign Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Selenoi A G 5: 30,461,085 (GRCm39) D107G probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Spag17 C T 3: 99,995,697 (GRCm39) P1779S probably damaging Het
Supt3 T C 17: 45,347,662 (GRCm39) V208A probably benign Het
Tbc1d30 T C 10: 121,115,063 (GRCm39) E365G probably damaging Het
Tnxb C T 17: 34,922,309 (GRCm39) T2374I possibly damaging Het
Trip12 A G 1: 84,726,997 (GRCm39) I1T probably damaging Het
Other mutations in Cops3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01957:Cops3 APN 11 59,712,217 (GRCm39) splice site probably benign
IGL02622:Cops3 APN 11 59,723,864 (GRCm39) missense probably benign 0.26
IGL02657:Cops3 APN 11 59,721,043 (GRCm39) missense probably damaging 0.99
IGL03271:Cops3 APN 11 59,723,889 (GRCm39) missense probably damaging 0.99
IGL03400:Cops3 APN 11 59,708,914 (GRCm39) missense probably benign 0.02
R0449:Cops3 UTSW 11 59,709,243 (GRCm39) critical splice donor site probably null
R0699:Cops3 UTSW 11 59,717,148 (GRCm39) missense probably damaging 1.00
R1485:Cops3 UTSW 11 59,718,715 (GRCm39) missense possibly damaging 0.85
R1894:Cops3 UTSW 11 59,710,844 (GRCm39) missense probably benign 0.00
R2077:Cops3 UTSW 11 59,715,136 (GRCm39) missense possibly damaging 0.95
R2265:Cops3 UTSW 11 59,718,716 (GRCm39) missense probably benign 0.06
R3790:Cops3 UTSW 11 59,718,797 (GRCm39) missense probably benign 0.00
R4548:Cops3 UTSW 11 59,718,671 (GRCm39) critical splice donor site probably null
R4930:Cops3 UTSW 11 59,726,193 (GRCm39) intron probably benign
R5028:Cops3 UTSW 11 59,708,856 (GRCm39) unclassified probably benign
R5150:Cops3 UTSW 11 59,710,839 (GRCm39) missense probably damaging 0.99
R5319:Cops3 UTSW 11 59,718,762 (GRCm39) missense possibly damaging 0.78
R5436:Cops3 UTSW 11 59,715,171 (GRCm39) missense probably damaging 1.00
R5789:Cops3 UTSW 11 59,721,106 (GRCm39) intron probably benign
R6211:Cops3 UTSW 11 59,708,727 (GRCm39) unclassified probably benign
R6364:Cops3 UTSW 11 59,726,230 (GRCm39) intron probably benign
R6442:Cops3 UTSW 11 59,718,780 (GRCm39) missense probably benign 0.06
R6479:Cops3 UTSW 11 59,723,898 (GRCm39) missense probably benign 0.34
R6622:Cops3 UTSW 11 59,723,960 (GRCm39) missense probably damaging 0.99
R8698:Cops3 UTSW 11 59,708,886 (GRCm39) missense probably damaging 0.96
R8803:Cops3 UTSW 11 59,718,802 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-08-18