Incidental Mutation 'R3796:Cops7a'
ID 272760
Institutional Source Beutler Lab
Gene Symbol Cops7a
Ensembl Gene ENSMUSG00000030127
Gene Name COP9 signalosome subunit 7A
Synonyms COP9 complex S7a, D6Ertd35e
MMRRC Submission 040757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 124935376-124942501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124936795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 252 (R252H)
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: R252H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: R252H

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: R252H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: R252H

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 benign
Transcript: ENSMUST00000129976
SMART Domains Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127

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 noncoding transcript
Transcript: ENSMUST00000149346
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
Meta Mutation Damage Score 0.1205 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Krt8 T C 15: 101,907,877 (GRCm39) I233V probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Plbd2 A T 5: 120,630,933 (GRCm39) I224N probably damaging Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Rrm1 T A 7: 102,114,910 (GRCm39) probably null Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Spag6l A T 16: 16,580,916 (GRCm39) I477N probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging 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
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
R6477:Cops7a UTSW 6 124,937,139 (GRCm39) missense probably damaging 1.00
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'- AGTTCGACTTGGACCAAATCTTG -3'
(R):5'- AAAATCATCAGGGCCCGTC -3'

Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
Posted On 2015-03-25