Incidental Mutation 'IGL01412:Cops8'
ID 80060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops8
Ensembl Gene ENSMUSG00000034432
Gene Name COP9 signalosome subunit 8
Synonyms Csn8, Sgn8, 9430009J09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01412
Quality Score
Status
Chromosome 1
Chromosomal Location 90531147-90541063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90532153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 45 (L45F)
Ref Sequence ENSEMBL: ENSMUSP00000035884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036153] [ENSMUST00000186750]
AlphaFold Q8VBV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000036153
AA Change: L45F

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035884
Gene: ENSMUSG00000034432
AA Change: L45F

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 31 171 2.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186152
Predicted Effect probably benign
Transcript: ENSMUST00000186750
SMART Domains Protein: ENSMUSP00000139836
Gene: ENSMUSG00000034432

DomainStartEndE-ValueType
Pfam:PCI_Csn8 1 66 7.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191510
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 is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,958 (GRCm39) Q222* probably null Het
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Fhit G T 14: 9,870,065 (GRCm38) H72N probably damaging Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Gemin4 A T 11: 76,104,311 (GRCm39) V150D probably benign Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Man1a A G 10: 53,950,810 (GRCm39) V195A probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or51q1c T A 7: 103,652,842 (GRCm39) M120K probably damaging Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in Cops8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:Cops8 APN 1 90,539,956 (GRCm39) missense probably damaging 1.00
IGL03278:Cops8 APN 1 90,532,087 (GRCm39) splice site probably null
R2219:Cops8 UTSW 1 90,534,341 (GRCm39) missense probably benign 0.09
R2220:Cops8 UTSW 1 90,534,341 (GRCm39) missense probably benign 0.09
R4989:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5133:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5134:Cops8 UTSW 1 90,538,724 (GRCm39) missense probably damaging 1.00
R5287:Cops8 UTSW 1 90,534,342 (GRCm39) unclassified probably benign
R5403:Cops8 UTSW 1 90,534,342 (GRCm39) unclassified probably benign
R7038:Cops8 UTSW 1 90,531,320 (GRCm39) start gained probably benign
R8113:Cops8 UTSW 1 90,531,325 (GRCm39) missense probably benign
R8165:Cops8 UTSW 1 90,539,729 (GRCm39) splice site probably null
R8921:Cops8 UTSW 1 90,532,155 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05