Incidental Mutation 'R5244:Cops4'
ID 401042
Institutional Source Beutler Lab
Gene Symbol Cops4
Ensembl Gene ENSMUSG00000035297
Gene Name COP9 signalosome subunit 4
Synonyms D5Ertd774e, COP9 complex S4
MMRRC Submission 042815-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5244 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100666175-100695669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100681241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 131 (Q131K)
Ref Sequence ENSEMBL: ENSMUSP00000121979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045993] [ENSMUST00000123069] [ENSMUST00000123492] [ENSMUST00000146476] [ENSMUST00000151414]
AlphaFold O88544
Predicted Effect probably benign
Transcript: ENSMUST00000045993
AA Change: Q182K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: Q182K

DomainStartEndE-ValueType
PINT 295 377 2.09e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123069
Predicted Effect probably benign
Transcript: ENSMUST00000123492
AA Change: Q97K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119737
Gene: ENSMUSG00000035297
AA Change: Q97K

DomainStartEndE-ValueType
Pfam:PCI 179 251 7.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123559
Predicted Effect probably benign
Transcript: ENSMUST00000146476
AA Change: Q131K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147729
Predicted Effect probably benign
Transcript: ENSMUST00000151414
AA Change: Q131K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight subunits composing 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI

All alleles(8) : Targeted, other(2) Gene trapped(6)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,323,098 (GRCm39) G45W probably damaging Het
Abca13 C T 11: 9,225,081 (GRCm39) T520I probably benign Het
Adamtsl3 C T 7: 82,247,277 (GRCm39) P485L probably benign Het
Bbof1 A C 12: 84,476,847 (GRCm39) E492A possibly damaging Het
Capn11 T C 17: 45,944,818 (GRCm39) E483G probably damaging Het
Cbs C T 17: 31,836,134 (GRCm39) G438D probably damaging Het
Chil6 A G 3: 106,297,290 (GRCm39) Y284H probably damaging Het
Cul4a T C 8: 13,196,566 (GRCm39) I740T probably damaging Het
Cyfip1 C T 7: 55,574,947 (GRCm39) T1066I probably damaging Het
Dnah7b T C 1: 46,273,018 (GRCm39) L2382P probably damaging Het
Ehd3 A T 17: 74,136,995 (GRCm39) H388L probably benign Het
Fam13a G T 6: 58,930,459 (GRCm39) Y484* probably null Het
Gm5117 A G 8: 32,228,305 (GRCm39) noncoding transcript Het
Gulp1 G A 1: 44,827,613 (GRCm39) D260N probably damaging Het
Hhipl1 T A 12: 108,278,393 (GRCm39) N240K probably damaging Het
Hydin A T 8: 111,259,451 (GRCm39) E2474D possibly damaging Het
Ifi207 C T 1: 173,557,503 (GRCm39) V412I probably benign Het
Ighv9-4 T C 12: 114,263,871 (GRCm39) I21V probably benign Het
Kcnh1 A T 1: 191,907,184 (GRCm39) T79S probably benign Het
Kpna6 A G 4: 129,549,221 (GRCm39) probably null Het
Lnpk C T 2: 74,362,232 (GRCm39) G262D probably damaging Het
Lsm7 T C 10: 80,688,907 (GRCm39) E66G probably benign Het
Mbd3l1 T A 9: 18,395,933 (GRCm39) C19* probably null Het
Mfsd6l T A 11: 68,448,001 (GRCm39) L284Q possibly damaging Het
Naip5 C T 13: 100,382,170 (GRCm39) V180I probably benign Het
Or2ag1b T A 7: 106,288,396 (GRCm39) I181F probably benign Het
Or2j6 A T 7: 139,980,051 (GRCm39) C303S probably benign Het
Or4k39 T A 2: 111,238,899 (GRCm39) noncoding transcript Het
Or6d13 T A 6: 116,518,187 (GRCm39) Y258N probably damaging Het
Or7g22 A T 9: 19,049,147 (GRCm39) N286I probably damaging Het
Or8g20 T G 9: 39,395,808 (GRCm39) H247P probably damaging Het
Or8u10 C G 2: 85,915,300 (GRCm39) A274P probably damaging Het
Pck1 T A 2: 172,996,656 (GRCm39) I190N possibly damaging Het
Pfkfb3 T A 2: 11,489,660 (GRCm39) I209F probably damaging Het
Phc1 A G 6: 122,298,938 (GRCm39) S677P probably damaging Het
Pirb G A 7: 3,719,062 (GRCm39) A609V probably benign Het
Plag1 A T 4: 3,903,887 (GRCm39) S435T probably benign Het
Plscr2 C G 9: 92,173,102 (GRCm39) L215V probably benign Het
Pnma8a A G 7: 16,695,248 (GRCm39) S368G probably damaging Het
Polr2b A G 5: 77,490,847 (GRCm39) probably benign Het
Pthlh T C 6: 147,158,651 (GRCm39) Y103C probably damaging Het
Ptprq A G 10: 107,422,556 (GRCm39) V1612A possibly damaging Het
Rprd2 T A 3: 95,697,494 (GRCm39) I85L possibly damaging Het
Slc27a2 T C 2: 126,420,775 (GRCm39) V422A probably benign Het
Slc29a1 T C 17: 45,899,339 (GRCm39) probably benign Het
Slc36a4 A T 9: 15,645,574 (GRCm39) I334F probably benign Het
Slc4a10 T A 2: 62,119,069 (GRCm39) S761R probably damaging Het
Spa17 T A 9: 37,523,285 (GRCm39) M1L probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stk19 A G 17: 35,051,046 (GRCm39) L72P probably damaging Het
Trhde T C 10: 114,636,986 (GRCm39) M74V probably benign Het
Trim37 C T 11: 87,109,083 (GRCm39) H937Y probably benign Het
Ttc7b A G 12: 100,314,269 (GRCm39) L46P probably damaging Het
Ttll4 T C 1: 74,735,607 (GRCm39) V1005A probably benign Het
Ugt2b36 T C 5: 87,239,765 (GRCm39) T207A probably damaging Het
Unc13c C T 9: 73,433,233 (GRCm39) probably null Het
Vmn1r221 T C 13: 23,401,808 (GRCm39) noncoding transcript Het
Vmn2r101 T C 17: 19,831,788 (GRCm39) S595P probably damaging Het
Wnt10a T C 1: 74,842,454 (GRCm39) L310P probably damaging Het
Yif1b G A 7: 28,943,866 (GRCm39) A115T probably damaging Het
Zfp219 C A 14: 52,245,999 (GRCm39) R331L possibly damaging Het
Other mutations in Cops4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Cops4 APN 5 100,681,421 (GRCm39) missense probably damaging 1.00
IGL02152:Cops4 APN 5 100,681,456 (GRCm39) missense probably benign 0.20
R0011:Cops4 UTSW 5 100,675,847 (GRCm39) missense probably benign
R0011:Cops4 UTSW 5 100,675,847 (GRCm39) missense probably benign
R0326:Cops4 UTSW 5 100,676,408 (GRCm39) missense probably damaging 0.99
R0494:Cops4 UTSW 5 100,676,528 (GRCm39) missense probably damaging 0.97
R0639:Cops4 UTSW 5 100,685,326 (GRCm39) missense possibly damaging 0.48
R1162:Cops4 UTSW 5 100,678,023 (GRCm39) splice site probably benign
R1400:Cops4 UTSW 5 100,681,412 (GRCm39) missense probably damaging 1.00
R4209:Cops4 UTSW 5 100,695,352 (GRCm39) unclassified probably benign
R4943:Cops4 UTSW 5 100,695,292 (GRCm39) missense probably benign 0.00
R5350:Cops4 UTSW 5 100,666,405 (GRCm39) missense possibly damaging 0.81
R5855:Cops4 UTSW 5 100,695,280 (GRCm39) missense probably benign
R6010:Cops4 UTSW 5 100,691,776 (GRCm39) missense possibly damaging 0.63
R6026:Cops4 UTSW 5 100,690,194 (GRCm39) unclassified probably benign
R7390:Cops4 UTSW 5 100,691,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCACTATAGTGTCCGGTAAGC -3'
(R):5'- TGGGCGGCCTCAATGAATTTC -3'

Sequencing Primer
(F):5'- AGCCTGAAACTTGGCACTTG -3'
(R):5'- TCCTTCTGTAATCAAGGACACGCG -3'
Posted On 2016-07-06