Incidental Mutation 'IGL01122:Cops6'
ID51149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops6
Ensembl Gene ENSMUSG00000019494
Gene NameCOP9 signalosome subunit 6
SynonymsSgn3, VIP/MOV34, COP9 complex S6
Accession Numbers

Genbank: NM_012002; MGI: 1349439

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01122
Quality Score
Status
Chromosome5
Chromosomal Location138161071-138164646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138162373 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 129 (K129E)
Ref Sequence ENSEMBL: ENSMUSP00000106576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000110951] [ENSMUST00000132639] [ENSMUST00000148879]
Predicted Effect probably benign
Transcript: ENSMUST00000000505
SMART Domains Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 1e-41 BLAST
MCM 145 642 N/A SMART
AAA 373 526 2.9e-4 SMART
Blast:MCM 658 719 1e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000019638
AA Change: K156E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: K156E

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
JAB_MPN 37 170 9.73e-35 SMART
Pfam:MitMem_reg 191 304 1.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083593
Predicted Effect probably benign
Transcript: ENSMUST00000110951
AA Change: K129E

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
AA Change: K129E

DomainStartEndE-ValueType
JAB_MPN 10 143 9.73e-35 SMART
Pfam:MitMem_reg 163 279 2.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127881
Predicted Effect probably benign
Transcript: ENSMUST00000132639
SMART Domains Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494

DomainStartEndE-ValueType
Pfam:MitMem_reg 17 112 3.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148879
SMART Domains Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Blast:MCM 48 132 6e-44 BLAST
MCM 145 389 1.77e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154867
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. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele or a transgenic gene disruption exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit increased sensitivity to irradiation and decreased incidence of ionizing radiation-induced tumors. [provided by MGI curators]
Allele List at MGI

All alleles(15) : Gene trapped(15)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 169,246,670 K142N possibly damaging Het
Atp13a1 T A 8: 69,798,905 L540Q probably damaging Het
C530008M17Rik T C 5: 76,870,675 *1289Q probably null Het
Cacna1a T C 8: 84,614,793 probably null Het
Cyp11a1 T C 9: 58,016,306 I98T probably damaging Het
Cyp2c65 A G 19: 39,072,177 probably null Het
Dapl1 A T 2: 59,494,495 K30I probably damaging Het
Dlg2 A G 7: 92,442,608 M894V possibly damaging Het
Eme2 C T 17: 24,893,346 A202T possibly damaging Het
Fbxw22 A T 9: 109,386,671 S170T probably damaging Het
Gm13078 A G 4: 143,728,401 D423G probably benign Het
Havcr2 A G 11: 46,456,427 Y77C probably damaging Het
Ivd T A 2: 118,876,880 probably benign Het
Map3k9 T C 12: 81,732,126 D471G possibly damaging Het
Med12 T C X: 101,281,543 probably benign Het
Megf6 C T 4: 154,253,807 R445W probably damaging Het
Mptx1 A G 1: 174,332,398 Y90C probably damaging Het
Nek1 G A 8: 61,120,966 V1083I possibly damaging Het
Nepn T A 10: 52,391,815 I59N probably damaging Het
Olfr1245 A G 2: 89,575,423 I101T possibly damaging Het
Pbdc1 T C X: 105,082,691 probably benign Het
Phlpp1 G T 1: 106,173,436 R478L possibly damaging Het
Ppp2r3a A G 9: 101,211,645 L493P probably benign Het
Ppp2r3c C T 12: 55,297,802 G127D probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Rdh13 T C 7: 4,442,695 K60R probably benign Het
Scaf4 A G 16: 90,248,630 S528P unknown Het
Sfmbt1 A G 14: 30,810,311 I543V probably damaging Het
Speg T C 1: 75,410,035 L1271P probably damaging Het
Stard9 C A 2: 120,698,479 T1739K possibly damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tmprss11b G T 5: 86,663,517 T186K probably benign Het
U2surp G T 9: 95,490,234 Q291K probably benign Het
Ulk4 A G 9: 121,168,292 I738T possibly damaging Het
Urb1 A T 16: 90,804,458 S142T possibly damaging Het
Vmn2r112 T A 17: 22,603,007 I222N probably benign Het
Zmym4 T C 4: 126,864,252 N1503S probably damaging Het
Other mutations in Cops6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Cops6 APN 5 138163378 missense probably damaging 1.00
IGL00929:Cops6 APN 5 138161386 start codon destroyed probably null 0.02
IGL02652:Cops6 APN 5 138161438 unclassified probably null
R0593:Cops6 UTSW 5 138163580 missense probably benign 0.18
R2271:Cops6 UTSW 5 138161141 missense probably benign 0.00
R5011:Cops6 UTSW 5 138162197 missense probably benign 0.00
R5294:Cops6 UTSW 5 138161116 unclassified probably benign
R5394:Cops6 UTSW 5 138163500 splice site probably null
R6225:Cops6 UTSW 5 138161411 missense possibly damaging 0.91
R6526:Cops6 UTSW 5 138163900 unclassified probably null
R6943:Cops6 UTSW 5 138163528 missense probably benign 0.43
R7242:Cops6 UTSW 5 138163580 missense probably benign 0.18
Posted On2013-06-21