Incidental Mutation 'IGL02657:Cops3'
ID 302392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops3
Ensembl Gene ENSMUSG00000019373
Gene Name COP9 signalosome subunit 3
Synonyms Csn3, Sgn3, COP9 complex S3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02657
Quality Score
Chromosome 11
Chromosomal Location 59817795-59839838 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59830217 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 124 (L124H)
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: L124H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: L124H

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
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably damaging 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
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
R5028:Cops3 UTSW 11 59818030 unclassified 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
R8698:Cops3 UTSW 11 59818060 missense probably damaging 0.96
R8803:Cops3 UTSW 11 59827976 missense probably benign
Posted On 2015-04-16