Incidental Mutation 'R6477:Cops7a'
ID 516837
Institutional Source Beutler Lab
Gene Symbol Cops7a
Ensembl Gene ENSMUSG00000030127
Gene Name COP9 signalosome subunit 7A
Synonyms COP9 complex S7a, D6Ertd35e
MMRRC Submission 044609-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6477 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124935376-124942501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124937139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 184 (V184E)
Ref Sequence ENSEMBL: ENSMUSP00000108058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032220] [ENSMUST00000112439] [ENSMUST00000129446] [ENSMUST00000129976] [ENSMUST00000148485]
AlphaFold Q9CZ04
Predicted Effect probably damaging
Transcript: ENSMUST00000032220
AA Change: V184E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: V184E

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 230 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083831
Predicted Effect probably damaging
Transcript: ENSMUST00000112439
AA Change: V184E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: V184E

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129446
SMART Domains Protein: ENSMUSP00000114420
Gene: ENSMUSG00000030127

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 176 2e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129976
AA Change: V184E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127
AA Change: V184E

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135645
Predicted Effect probably benign
Transcript: ENSMUST00000148485
SMART Domains Protein: ENSMUSP00000115348
Gene: ENSMUSG00000030127

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Blast:PINT 31 77 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149346
Meta Mutation Damage Score 0.8913 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,696 (GRCm39) D23G probably benign Het
Abca14 T C 7: 119,924,325 (GRCm39) I1659T probably benign Het
Ankdd1a C T 9: 65,409,494 (GRCm39) V481M probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Cfap161 T A 7: 83,443,230 (GRCm39) R20* probably null Het
Cpa3 T C 3: 20,293,739 (GRCm39) E83G possibly damaging Het
Crls1 C T 2: 132,703,153 (GRCm39) S201L probably benign Het
Cyp4f39 C A 17: 32,700,791 (GRCm39) S153R probably damaging Het
Ddx54 T A 5: 120,759,843 (GRCm39) I410N probably damaging Het
Dido1 T A 2: 180,302,274 (GRCm39) T1877S probably benign Het
Dip2c A G 13: 9,673,796 (GRCm39) S1079G probably damaging Het
Dnhd1 G A 7: 105,327,093 (GRCm39) V681I probably benign Het
Dst A G 1: 34,247,809 (GRCm39) probably null Het
Eya2 A G 2: 165,605,681 (GRCm39) T362A probably benign Het
Garre1 A G 7: 33,957,055 (GRCm39) probably null Het
Hgs G A 11: 120,360,481 (GRCm39) V60M probably damaging Het
Inpp4b A G 8: 82,571,343 (GRCm39) probably null Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kdr C A 5: 76,129,501 (GRCm39) A129S probably benign Het
Lhcgr A T 17: 89,049,801 (GRCm39) M575K probably damaging Het
Lsamp G T 16: 41,988,528 (GRCm39) probably benign Het
Mcm5 T C 8: 75,839,230 (GRCm39) V161A probably benign Het
Mmp14 A T 14: 54,675,115 (GRCm39) H249L probably damaging Het
Mroh5 A G 15: 73,662,604 (GRCm39) S405P probably damaging Het
Mroh9 C A 1: 162,903,873 (GRCm39) L46F probably damaging Het
Mtrr A T 13: 68,718,192 (GRCm39) H357Q probably damaging Het
Myrf G A 19: 10,206,149 (GRCm39) P89L probably benign Het
Mzb1 C T 18: 35,781,311 (GRCm39) probably null Het
Naip6 A G 13: 100,452,516 (GRCm39) S182P probably damaging Het
Nmur2 A T 11: 55,920,417 (GRCm39) F276Y probably damaging Het
Nudt12 G T 17: 59,318,140 (GRCm39) S35Y probably benign Het
Or51h5 T A 7: 102,577,585 (GRCm39) V250E probably damaging Het
Or56b1 T C 7: 104,284,886 (GRCm39) S2P probably benign Het
Or9m1 A G 2: 87,733,334 (GRCm39) S229P probably damaging Het
Osbpl1a T C 18: 12,889,318 (GRCm39) I541V probably benign Het
Parp4 A G 14: 56,884,694 (GRCm39) K1258E probably benign Het
Plcxd2 C G 16: 45,801,022 (GRCm39) K67N probably damaging Het
Pnpla6 A G 8: 3,586,627 (GRCm39) T930A probably benign Het
Pomt1 G A 2: 32,138,728 (GRCm39) probably null Het
Ppp1r14bl A T 1: 23,140,861 (GRCm39) L151Q probably benign Het
Pramel6 A G 2: 87,340,946 (GRCm39) Y426C possibly damaging Het
Prss27 A G 17: 24,263,235 (GRCm39) T83A probably damaging Het
Rbm27 T A 18: 42,466,383 (GRCm39) V915E probably damaging Het
Rnf114 T A 2: 167,345,408 (GRCm39) D10E probably benign Het
Sbk1 A G 7: 125,890,350 (GRCm39) E121G probably damaging Het
Senp6 A T 9: 80,000,907 (GRCm39) R39* probably null Het
Sergef A T 7: 46,283,250 (GRCm39) I94N probably benign Het
Slc30a9 C T 5: 67,485,867 (GRCm39) R183W probably benign Het
Smurf1 C T 5: 144,826,602 (GRCm39) R414H possibly damaging Het
Sptb A T 12: 76,653,166 (GRCm39) W1566R probably damaging Het
Tenm2 T C 11: 35,901,334 (GRCm39) probably null Het
Tnni1 T C 1: 135,733,304 (GRCm39) V42A probably benign Het
Tnxb A G 17: 34,938,513 (GRCm39) Y3098C probably damaging Het
Ubald2 T C 11: 116,325,400 (GRCm39) F46L probably benign Het
Ubqln5 G A 7: 103,777,465 (GRCm39) S453F probably damaging Het
Ubr3 A T 2: 69,809,773 (GRCm39) R1248* probably null Het
Utp20 A G 10: 88,604,780 (GRCm39) V1705A probably benign Het
Zfp60 G A 7: 27,449,228 (GRCm39) R632H probably benign Het
Zfp638 A G 6: 83,942,560 (GRCm39) Y957C probably damaging Het
Zfp825 A T 13: 74,629,029 (GRCm39) S162R possibly damaging Het
Zfp831 A C 2: 174,545,960 (GRCm39) K1355T probably benign Het
Other mutations in Cops7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Cops7a APN 6 124,939,379 (GRCm39) missense probably benign 0.00
rubric UTSW 6 124,937,139 (GRCm39) missense probably damaging 1.00
H8562:Cops7a UTSW 6 124,939,416 (GRCm39) unclassified probably benign
R0139:Cops7a UTSW 6 124,938,323 (GRCm39) missense probably damaging 0.98
R0242:Cops7a UTSW 6 124,941,817 (GRCm39) missense probably benign 0.00
R0242:Cops7a UTSW 6 124,941,817 (GRCm39) missense probably benign 0.00
R1121:Cops7a UTSW 6 124,939,379 (GRCm39) missense probably benign 0.00
R1662:Cops7a UTSW 6 124,939,401 (GRCm39) missense probably damaging 0.96
R1935:Cops7a UTSW 6 124,939,359 (GRCm39) nonsense probably null
R2920:Cops7a UTSW 6 124,939,325 (GRCm39) missense probably benign 0.21
R3796:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3797:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3799:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3854:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R5034:Cops7a UTSW 6 124,939,583 (GRCm39) splice site probably null
R5858:Cops7a UTSW 6 124,937,134 (GRCm39) missense possibly damaging 0.82
R6879:Cops7a UTSW 6 124,935,748 (GRCm39) splice site probably null
R8906:Cops7a UTSW 6 124,939,371 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GTTGGCAACCTATCAGGATGAAAG -3'
(R):5'- TCTGTTGTAGCTAGTTCCCAGG -3'

Sequencing Primer
(F):5'- TAGCCAAAGGAGGTTCTGGAAC -3'
(R):5'- TAGCTAGTTCCCAGGTGCCC -3'
Posted On 2018-05-21