Incidental Mutation 'R6943:Cops6'
ID 540650
Institutional Source Beutler Lab
Gene Symbol Cops6
Ensembl Gene ENSMUSG00000019494
Gene Name COP9 signalosome subunit 6
Synonyms COP9 complex S6, VIP/MOV34, Sgn3
MMRRC Submission 045057-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6943 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 138159364-138162246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138161790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 224 (H224Q)
Ref Sequence ENSEMBL: ENSMUSP00000106576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000110951] [ENSMUST00000132639] [ENSMUST00000148879] [ENSMUST00000153867]
AlphaFold O88545
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: H251Q

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: H251Q

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 probably benign
Transcript: ENSMUST00000110951
AA Change: H224Q

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
AA Change: H224Q

DomainStartEndE-ValueType
JAB_MPN 10 143 9.73e-35 SMART
Pfam:MitMem_reg 163 279 2.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132639
AA Change: H78Q

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494
AA Change: H78Q

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 probably benign
Transcript: ENSMUST00000153867
SMART Domains Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730

DomainStartEndE-ValueType
Pfam:MCM_N 1 58 9.5e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,583,362 (GRCm39) probably null Het
Arhgef1 A G 7: 24,623,156 (GRCm39) I423V probably benign Het
Aspm T C 1: 139,408,280 (GRCm39) L2389P probably damaging Het
B4galt1 T C 4: 40,812,860 (GRCm39) M222V probably benign Het
Bsn C A 9: 107,985,016 (GRCm39) G3013C unknown Het
Camsap2 T C 1: 136,232,187 (GRCm39) H136R probably damaging Het
Ccar1 A G 10: 62,582,715 (GRCm39) V1047A unknown Het
Ccdc80 A G 16: 44,915,445 (GRCm39) E67G probably benign Het
Ces3b G T 8: 105,819,710 (GRCm39) G511V probably damaging Het
Dnah5 A T 15: 28,235,866 (GRCm39) D331V probably damaging Het
Dusp29 T C 14: 21,727,135 (GRCm39) D171G probably damaging Het
Echs1 G A 7: 139,688,007 (GRCm39) T266I probably damaging Het
Ehmt2 G A 17: 35,130,406 (GRCm39) C1017Y probably damaging Het
Epb41l5 C T 1: 119,536,859 (GRCm39) R344Q probably damaging Het
Fcgbp G A 7: 27,791,477 (GRCm39) V913I probably benign Het
Foxd4 A G 19: 24,877,240 (GRCm39) F320S probably damaging Het
Frmpd4 C T X: 166,387,579 (GRCm39) R133K probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gphn C G 12: 78,538,955 (GRCm39) S200R possibly damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Q7 T G 17: 35,658,560 (GRCm39) M66R probably benign Het
Hivep2 T A 10: 14,004,058 (GRCm39) C219S probably damaging Het
Hlcs A T 16: 93,942,261 (GRCm39) M90K possibly damaging Het
Itga8 C A 2: 12,160,182 (GRCm39) probably null Het
Klrk1 T A 6: 129,598,203 (GRCm39) M1L possibly damaging Het
Kmo T A 1: 175,485,941 (GRCm39) F385I probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc3c A G 11: 98,490,075 (GRCm39) D144G probably damaging Het
Lyzl4 C T 9: 121,412,047 (GRCm39) W123* probably null Het
Map3k1 A G 13: 111,909,246 (GRCm39) S77P probably benign Het
Mark1 T C 1: 184,630,984 (GRCm39) T709A probably damaging Het
Nbr1 A T 11: 101,468,777 (GRCm39) I878F probably damaging Het
Nedd1 A T 10: 92,547,168 (GRCm39) H118Q probably damaging Het
Nfatc1 C T 18: 80,678,770 (GRCm39) G873S probably damaging Het
Ngly1 T G 14: 16,283,467 (GRCm38) N415K probably damaging Het
Nol6 C A 4: 41,118,962 (GRCm39) R677L probably damaging Het
Nop9 T C 14: 55,990,270 (GRCm39) V471A probably benign Het
Notch4 A G 17: 34,802,577 (GRCm39) N1333D probably benign Het
Nsun2 G A 13: 69,778,152 (GRCm39) G478R probably damaging Het
Or10x4 T A 1: 174,219,407 (GRCm39) Y257* probably null Het
Or1ad8 T A 11: 50,898,153 (GRCm39) M118K probably damaging Het
Or5m9b T C 2: 85,905,264 (GRCm39) F60S probably damaging Het
Or8g34 A T 9: 39,373,159 (GRCm39) Y144F probably benign Het
Pcp4l1 T C 1: 171,002,022 (GRCm39) E46G possibly damaging Het
Plek2 T C 12: 78,936,083 (GRCm39) probably null Het
Rbl1 T G 2: 157,030,206 (GRCm39) I434L probably benign Het
Ryr2 A G 13: 11,581,834 (GRCm39) V4777A possibly damaging Het
Sgk1 T C 10: 21,758,593 (GRCm39) F19S probably damaging Het
Stard9 C T 2: 120,532,677 (GRCm39) A2978V probably benign Het
Syne1 T C 10: 5,033,940 (GRCm39) T7711A probably benign Het
Taf10 G A 7: 105,393,383 (GRCm39) T48I probably benign Het
Tgfbi T G 13: 56,784,989 (GRCm39) S649A possibly damaging Het
Thbs3 T C 3: 89,132,171 (GRCm39) V749A probably benign Het
Tmem241 G T 18: 12,180,641 (GRCm39) H218N possibly damaging Het
Tmem266 C T 9: 55,284,851 (GRCm39) probably benign Het
Tnc T C 4: 63,900,982 (GRCm39) I1586M probably damaging Het
Ubr4 T A 4: 139,164,442 (GRCm39) C2676* probably null Het
Unc13a A T 8: 72,105,021 (GRCm39) I747N probably damaging Het
Vangl1 A T 3: 102,073,097 (GRCm39) probably benign Het
Vmn1r184 C T 7: 25,966,563 (GRCm39) T103I possibly damaging Het
Vmn1r204 T C 13: 22,740,474 (GRCm39) V35A probably benign Het
Vps13b A G 15: 35,448,835 (GRCm39) H603R possibly damaging Het
Zfp105 A G 9: 122,754,303 (GRCm39) D44G probably benign Het
Zfp11 T C 5: 129,735,152 (GRCm39) H103R probably damaging Het
Zfp335 A G 2: 164,736,795 (GRCm39) F947L possibly damaging Het
Other mutations in Cops6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Cops6 APN 5 138,161,640 (GRCm39) missense probably damaging 1.00
IGL00929:Cops6 APN 5 138,159,648 (GRCm39) start codon destroyed probably null 0.02
IGL01122:Cops6 APN 5 138,160,635 (GRCm39) missense probably benign 0.42
IGL02652:Cops6 APN 5 138,159,700 (GRCm39) splice site probably null
R0593:Cops6 UTSW 5 138,161,842 (GRCm39) missense probably benign 0.18
R2271:Cops6 UTSW 5 138,159,403 (GRCm39) missense probably benign 0.00
R5011:Cops6 UTSW 5 138,160,459 (GRCm39) missense probably benign 0.00
R5294:Cops6 UTSW 5 138,159,378 (GRCm39) unclassified probably benign
R5394:Cops6 UTSW 5 138,161,762 (GRCm39) splice site probably null
R6225:Cops6 UTSW 5 138,159,673 (GRCm39) missense possibly damaging 0.91
R6526:Cops6 UTSW 5 138,162,162 (GRCm39) splice site probably null
R7242:Cops6 UTSW 5 138,161,842 (GRCm39) missense probably benign 0.18
R8692:Cops6 UTSW 5 138,162,083 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CATAGTGCCATCAAGATGCTGC -3'
(R):5'- ACGTCATTGCATTGCTGGGAG -3'

Sequencing Primer
(F):5'- TCCTCTCCTGGAAAAGTG -3'
(R):5'- CATTGCATTGCTGGGAGGGAAC -3'
Posted On 2018-11-06