Incidental Mutation 'R5028:Cops3'
ID391520
Institutional Source Beutler Lab
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene NameCOP9 signalosome subunit 3
SynonymsCsn3, Sgn3, COP9 complex S3
MMRRC Submission 042619-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5028 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location59817795-59839838 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 59818030 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019517]
Predicted Effect probably benign
Transcript: ENSMUST00000019517
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 69,274,012 S777C probably damaging Het
Ano5 T A 7: 51,537,710 probably null Het
Arhgap17 T A 7: 123,294,673 H508L probably benign Het
Arhgap29 T A 3: 122,010,060 probably null Het
Atp12a T C 14: 56,386,978 F961S probably damaging Het
B4galnt4 C A 7: 141,068,062 P497Q probably benign Het
Camsap1 A G 2: 25,944,556 S364P probably damaging Het
Ccdc150 C A 1: 54,263,477 D85E probably benign Het
Cdc45 A G 16: 18,795,180 Y291H probably benign Het
Comp A C 8: 70,376,640 N289T probably damaging Het
Crybg1 G A 10: 43,998,212 H967Y possibly damaging Het
Csmd1 A T 8: 15,989,090 F2423I probably damaging Het
Dact1 C A 12: 71,318,573 C709* probably null Het
Dcxr T G 11: 120,726,447 Q90P probably damaging Het
Ell A G 8: 70,590,699 Y494C probably damaging Het
Emilin2 T C 17: 71,274,732 E333G possibly damaging Het
Eml2 T C 7: 19,179,447 probably null Het
Fam186b T A 15: 99,280,801 M215L probably damaging Het
Gm17078 T A 14: 51,611,242 R13W probably null Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Hspa14 A G 2: 3,498,169 F196S possibly damaging Het
Ier5 A G 1: 155,099,103 S110P possibly damaging Het
Kif1a T A 1: 93,054,327 I793F possibly damaging Het
Lrrc43 T C 5: 123,508,113 I643T probably damaging Het
Map3k19 A T 1: 127,823,232 L794Q probably benign Het
Meox2 A T 12: 37,108,936 M36L probably benign Het
Mgat5b T A 11: 116,985,029 L693Q probably damaging Het
Mup4 T A 4: 59,958,124 E148V possibly damaging Het
Napb T C 2: 148,703,137 N162S possibly damaging Het
Nlgn2 T C 11: 69,827,737 D339G probably benign Het
Nucks1 C T 1: 131,928,102 R90C possibly damaging Het
Olfr1431 T A 19: 12,210,154 V196E possibly damaging Het
Olfr740 T C 14: 50,453,739 V229A probably damaging Het
Plekhd1 A T 12: 80,692,949 D24V probably damaging Het
Prpf4b C T 13: 34,899,975 P909L probably damaging Het
Rasgrp1 T A 2: 117,302,004 K116* probably null Het
Ror1 A G 4: 100,411,936 T324A possibly damaging Het
Slc24a4 G A 12: 102,264,370 G505R probably damaging Het
Slc8a1 A G 17: 81,649,273 I112T possibly damaging Het
Smarcc2 A G 10: 128,461,445 S69G probably damaging Het
Smc2 A T 4: 52,458,447 E429D probably damaging Het
Sry T C Y: 2,663,312 D116G probably damaging Het
Tcea3 T A 4: 136,257,935 V154E possibly damaging Het
Tigd2 G A 6: 59,211,220 W357* probably null Het
Tmem177 T A 1: 119,910,689 T87S probably benign Het
Treh A T 9: 44,682,889 E144V probably null Het
Trpm6 T A 19: 18,786,760 D243E probably damaging Het
Ttn T C 2: 76,778,050 D17843G probably damaging Het
Vars2 A C 17: 35,659,473 probably null Het
Vmn1r201 G A 13: 22,475,360 W248* probably null Het
Yap1 T C 9: 8,001,689 T99A probably benign Het
Zbtb8b C A 4: 129,433,000 C91F probably damaging Het
Zfp882 A G 8: 71,914,654 T442A possibly damaging Het
Zxdc G T 6: 90,382,338 G651C probably benign Het
Other mutations in Cops3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01957:Cops3 APN 11 59821391 splice site probably benign
IGL02622:Cops3 APN 11 59833038 missense probably benign 0.26
IGL02657:Cops3 APN 11 59830217 missense probably damaging 0.99
IGL03271:Cops3 APN 11 59833063 missense probably damaging 0.99
IGL03400:Cops3 APN 11 59818088 missense probably benign 0.02
R0449:Cops3 UTSW 11 59818417 critical splice donor site probably null
R0699:Cops3 UTSW 11 59826322 missense probably damaging 1.00
R1485:Cops3 UTSW 11 59827889 missense possibly damaging 0.85
R1894:Cops3 UTSW 11 59820018 missense probably benign 0.00
R2077:Cops3 UTSW 11 59824310 missense possibly damaging 0.95
R2265:Cops3 UTSW 11 59827890 missense probably benign 0.06
R3790:Cops3 UTSW 11 59827971 missense probably benign 0.00
R4540:Cops3 UTSW 11 59830154 missense probably damaging 1.00
R4548:Cops3 UTSW 11 59827845 critical splice donor site probably null
R4930:Cops3 UTSW 11 59835367 intron probably benign
R5150:Cops3 UTSW 11 59820013 missense probably damaging 0.99
R5319:Cops3 UTSW 11 59827936 missense possibly damaging 0.78
R5436:Cops3 UTSW 11 59824345 missense probably damaging 1.00
R5789:Cops3 UTSW 11 59830280 intron probably benign
R6211:Cops3 UTSW 11 59817901 unclassified probably benign
R6364:Cops3 UTSW 11 59835404 intron probably benign
R6442:Cops3 UTSW 11 59827954 missense probably benign 0.06
R6479:Cops3 UTSW 11 59833072 missense probably benign 0.34
R6622:Cops3 UTSW 11 59833134 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTGGAACCTTTGCGAGAGG -3'
(R):5'- GGTAGTTCCTGCAGAGACAG -3'

Sequencing Primer
(F):5'- GAACACACATTAACATTCAAGGGG -3'
(R):5'- TTCCTGCAGAGACAGGCTGG -3'
Posted On2016-06-06