Incidental Mutation 'R5028:Cops3'
ID 391520
Institutional Source Beutler Lab
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene Name COP9 signalosome subunit 3
Synonyms COP9 complex S3, Csn3, Sgn3
MMRRC Submission 042619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5028 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59708621-59730664 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 59708856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019517]
AlphaFold O88543
Predicted Effect probably benign
Transcript: ENSMUST00000019517
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373

PINT 293 383 1.16e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151825
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158325
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 97% (62/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,104,356 (GRCm39) S777C probably damaging Het
Ano5 T A 7: 51,187,458 (GRCm39) probably null Het
Arhgap17 T A 7: 122,893,896 (GRCm39) H508L probably benign Het
Arhgap29 T A 3: 121,803,709 (GRCm39) probably null Het
Atp12a T C 14: 56,624,435 (GRCm39) F961S probably damaging Het
B4galnt4 C A 7: 140,647,975 (GRCm39) P497Q probably benign Het
Camsap1 A G 2: 25,834,568 (GRCm39) S364P probably damaging Het
Ccdc150 C A 1: 54,302,636 (GRCm39) D85E probably benign Het
Cdc45 A G 16: 18,613,930 (GRCm39) Y291H probably benign Het
Comp A C 8: 70,829,290 (GRCm39) N289T probably damaging Het
Crybg1 G A 10: 43,874,208 (GRCm39) H967Y possibly damaging Het
Csmd1 A T 8: 16,039,090 (GRCm39) F2423I probably damaging Het
Dact1 C A 12: 71,365,347 (GRCm39) C709* probably null Het
Dcxr T G 11: 120,617,273 (GRCm39) Q90P probably damaging Het
Ell A G 8: 71,043,349 (GRCm39) Y494C probably damaging Het
Emilin2 T C 17: 71,581,727 (GRCm39) E333G possibly damaging Het
Eml2 T C 7: 18,913,372 (GRCm39) probably null Het
Fam186b T A 15: 99,178,682 (GRCm39) M215L probably damaging Het
Gm17078 T A 14: 51,848,699 (GRCm39) R13W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hspa14 A G 2: 3,499,206 (GRCm39) F196S possibly damaging Het
Ier5 A G 1: 154,974,849 (GRCm39) S110P possibly damaging Het
Kif1a T A 1: 92,982,049 (GRCm39) I793F possibly damaging Het
Lrrc43 T C 5: 123,646,176 (GRCm39) I643T probably damaging Het
Map3k19 A T 1: 127,750,969 (GRCm39) L794Q probably benign Het
Meox2 A T 12: 37,158,935 (GRCm39) M36L probably benign Het
Mgat5b T A 11: 116,875,855 (GRCm39) L693Q probably damaging Het
Mup4 T A 4: 59,958,124 (GRCm39) E148V possibly damaging Het
Napb T C 2: 148,545,057 (GRCm39) N162S possibly damaging Het
Nlgn2 T C 11: 69,718,563 (GRCm39) D339G probably benign Het
Nucks1 C T 1: 131,855,840 (GRCm39) R90C possibly damaging Het
Or11g7 T C 14: 50,691,196 (GRCm39) V229A probably damaging Het
Or5an9 T A 19: 12,187,518 (GRCm39) V196E possibly damaging Het
Plekhd1 A T 12: 80,739,723 (GRCm39) D24V probably damaging Het
Prpf4b C T 13: 35,083,958 (GRCm39) P909L probably damaging Het
Rasgrp1 T A 2: 117,132,485 (GRCm39) K116* probably null Het
Ror1 A G 4: 100,269,133 (GRCm39) T324A possibly damaging Het
Slc24a4 G A 12: 102,230,629 (GRCm39) G505R probably damaging Het
Slc8a1 A G 17: 81,956,702 (GRCm39) I112T possibly damaging Het
Smarcc2 A G 10: 128,297,314 (GRCm39) S69G probably damaging Het
Smc2 A T 4: 52,458,447 (GRCm39) E429D probably damaging Het
Sry T C Y: 2,663,312 (GRCm39) D116G probably damaging Het
Tcea3 T A 4: 135,985,246 (GRCm39) V154E possibly damaging Het
Tigd2 G A 6: 59,188,205 (GRCm39) W357* probably null Het
Tmem177 T A 1: 119,838,419 (GRCm39) T87S probably benign Het
Treh A T 9: 44,594,186 (GRCm39) E144V probably null Het
Trpm6 T A 19: 18,764,124 (GRCm39) D243E probably damaging Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Vars2 A C 17: 35,970,365 (GRCm39) probably null Het
Vmn1r201 G A 13: 22,659,530 (GRCm39) W248* probably null Het
Yap1 T C 9: 8,001,690 (GRCm39) T99A probably benign Het
Zbtb8b C A 4: 129,326,793 (GRCm39) C91F probably damaging Het
Zfp882 A G 8: 72,668,498 (GRCm39) T442A possibly damaging Het
Zxdc G T 6: 90,359,320 (GRCm39) G651C probably benign 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
R4540:Cops3 UTSW 11 59,720,980 (GRCm39) missense probably damaging 1.00
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
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 2016-06-06