Incidental Mutation 'R6622:Cops3'
ID 524546
Institutional Source Beutler Lab
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene Name COP9 signalosome subunit 3
Synonyms COP9 complex S3, Csn3, Sgn3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 59708621-59730664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59723960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000120305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019517] [ENSMUST00000141415]
AlphaFold O88543
Predicted Effect probably benign
Transcript: ENSMUST00000019517
AA Change: F66L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: F66L

PINT 293 383 1.16e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136901
Predicted Effect probably damaging
Transcript: ENSMUST00000141415
AA Change: F93L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000156837
AA Change: F19L
SMART Domains Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: F19L

SCOP:d1ihga1 55 132 6e-4 SMART
Blast:PINT 216 244 4e-10 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I 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
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
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 2018-06-22