Incidental Mutation 'R1485:Cops3'
ID 163415
Institutional Source Beutler Lab
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene Name COP9 signalosome subunit 3
Synonyms COP9 complex S3, Csn3, Sgn3
MMRRC Submission 039538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1485 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59708621-59730664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59718715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 193 (T193M)
Ref Sequence ENSEMBL: ENSMUSP00000019517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019517]
AlphaFold O88543
Predicted Effect possibly damaging
Transcript: ENSMUST00000019517
AA Change: T193M

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: T193M

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000156837
AA Change: T115M
SMART Domains Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: T115M

DomainStartEndE-ValueType
SCOP:d1ihga1 55 132 6e-4 SMART
Blast:PINT 216 244 4e-10 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,727,738 (GRCm39) S301P probably damaging Het
AI987944 C A 7: 41,023,954 (GRCm39) G342* probably null Het
Alox5 A T 6: 116,401,125 (GRCm39) F212I probably damaging Het
Apaf1 A T 10: 90,896,105 (GRCm39) D322E probably benign Het
Aste1 T A 9: 105,275,009 (GRCm39) Y355* probably null Het
Bloc1s6 T G 2: 122,588,063 (GRCm39) probably null Het
Bltp2 A G 11: 78,176,406 (GRCm39) Y1836C probably damaging Het
Castor2 T A 5: 134,165,972 (GRCm39) L240Q probably damaging Het
Ccdc77 G A 6: 120,315,101 (GRCm39) Q183* probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Coch G T 12: 51,645,072 (GRCm39) V209F probably damaging Het
Cped1 T C 6: 22,132,387 (GRCm39) probably null Het
D6Ertd527e A T 6: 87,088,067 (GRCm39) S77C unknown Het
Defb7 A G 8: 19,545,110 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,590,603 (GRCm39) probably null Het
Entpd6 T A 2: 150,610,843 (GRCm39) probably null Het
Evc2 C T 5: 37,527,900 (GRCm39) A303V probably benign Het
Fhod1 T C 8: 106,063,430 (GRCm39) probably null Het
Gcn1 T A 5: 115,712,676 (GRCm39) F54I probably benign Het
Gm7104 C A 12: 88,252,333 (GRCm39) noncoding transcript Het
Grid1 A T 14: 34,544,540 (GRCm39) D37V probably damaging Het
Icam5 G A 9: 20,947,702 (GRCm39) A560T probably benign Het
Igf2r A C 17: 12,910,172 (GRCm39) I2019S probably damaging Het
Kcnj9 A G 1: 172,153,929 (GRCm39) V65A probably benign Het
Kif3b T C 2: 153,164,851 (GRCm39) probably null Het
Kmt2a T G 9: 44,738,225 (GRCm39) probably benign Het
Marchf6 T A 15: 31,498,839 (GRCm39) T153S probably damaging Het
Mcam T A 9: 44,048,060 (GRCm39) I72N probably damaging Het
Ncoa4-ps A G 12: 119,224,785 (GRCm39) noncoding transcript Het
Nkain3 T C 4: 20,484,932 (GRCm39) I48M probably damaging Het
Nop58 T A 1: 59,737,504 (GRCm39) I107N probably damaging Het
Notch2 A G 3: 98,007,573 (GRCm39) H441R probably benign Het
Nr1d1 G A 11: 98,661,187 (GRCm39) R360C probably benign Het
Or56a5 A G 7: 104,792,888 (GRCm39) I210T probably benign Het
Pclo T C 5: 14,763,793 (GRCm39) S4089P unknown Het
Pi4kb A G 3: 94,901,698 (GRCm39) E455G probably damaging Het
Piezo1 T C 8: 123,208,788 (GRCm39) Y2525C probably damaging Het
Pik3c2a A G 7: 116,016,908 (GRCm39) V283A possibly damaging Het
Pramel12 G A 4: 143,144,188 (GRCm39) R178Q probably benign Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Rasa2 A G 9: 96,426,401 (GRCm39) I815T probably benign Het
Rev1 A T 1: 38,127,653 (GRCm39) D202E probably benign Het
Septin14 C T 5: 129,770,118 (GRCm39) A193T probably damaging Het
Sh3tc1 T C 5: 35,876,370 (GRCm39) S112G probably benign Het
Siah3 T A 14: 75,762,994 (GRCm39) Y82N probably benign Het
Slc2a7 T C 4: 150,250,853 (GRCm39) S425P probably damaging Het
Slc9a2 C T 1: 40,765,548 (GRCm39) L313F probably damaging Het
Smdt1 T C 15: 82,230,433 (GRCm39) V50A probably benign Het
Spata31e2 T G 1: 26,724,961 (GRCm39) K73T possibly damaging Het
Supt3 G A 17: 45,347,607 (GRCm39) A197T probably benign Het
Tex10 A G 4: 48,436,492 (GRCm39) I742T possibly damaging Het
Tex44 T A 1: 86,355,640 (GRCm39) H516Q possibly damaging Het
Tfdp1 T G 8: 13,420,917 (GRCm39) D171E probably damaging Het
Trim31 A C 17: 37,209,568 (GRCm39) D108A probably damaging Het
Ubr1 T C 2: 120,791,579 (GRCm39) N135S probably benign Het
Uso1 G A 5: 92,328,422 (GRCm39) V340I possibly damaging Het
Utp6 A C 11: 79,839,749 (GRCm39) V313G probably damaging Het
Vmn2r107 T C 17: 20,595,109 (GRCm39) V554A possibly damaging Het
Xdh C A 17: 74,221,014 (GRCm39) E572* probably null Het
Zbtb7c T C 18: 76,270,061 (GRCm39) S50P probably damaging Het
Zfp672 A G 11: 58,220,395 (GRCm39) probably benign Het
Zzef1 A G 11: 72,791,635 (GRCm39) probably null 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
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
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
(F):5'- TTTGCAACCCATGTGCAATCAGC -3'
(R):5'- GGCAGTGTTCTTTAACCCTAGATGGC -3'

Sequencing Primer
(F):5'- GCTGTCCTAATATGTATGAACCAG -3'
(R):5'- TTAACCCTAGATGGCTAAGAAAATGG -3'
Posted On 2014-03-28