Incidental Mutation 'R3796:Cops7a'
ID272760
Institutional Source Beutler Lab
Gene Symbol Cops7a
Ensembl Gene ENSMUSG00000030127
Gene NameCOP9 signalosome subunit 7A
SynonymsCOP9 complex S7a, D6Ertd35e
MMRRC Submission 040757-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3796 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location124958413-124965538 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124959832 bp
ZygosityHeterozygous
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]
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 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 0.1205 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
9130011E15Rik A G 19: 45,921,610 probably benign Het
Adamts17 A G 7: 66,839,914 probably null Het
Alpk3 C A 7: 81,092,753 P773T probably benign Het
Alppl2 A G 1: 87,088,354 probably null Het
Basp1 C A 15: 25,364,312 probably benign Het
Clec14a G A 12: 58,267,909 A309V probably benign Het
Clk2 A G 3: 89,175,689 N424S probably benign Het
Csmd2 C T 4: 128,517,595 P2469S probably benign Het
Cwf19l1 A G 19: 44,114,567 V403A probably damaging Het
Dnajc16 G T 4: 141,767,737 D521E probably benign Het
Dnm2 T C 9: 21,505,487 V772A probably benign Het
Dst G T 1: 34,181,915 V2267F probably benign Het
Eif3d A G 15: 77,968,569 F4S probably damaging Het
Fgfr1 G A 8: 25,572,437 D663N probably damaging Het
Hmcn1 A G 1: 150,586,418 Y5170H probably damaging Het
Kcna2 T A 3: 107,105,590 L496I probably benign Het
Krt8 T C 15: 101,999,442 I233V probably benign Het
Mfap1b A G 2: 121,473,905 V3A probably benign Het
Phrf1 C T 7: 141,259,918 R243* probably null Het
Plbd2 A T 5: 120,492,868 I224N probably damaging Het
Rab19 T C 6: 39,384,041 V41A probably benign Het
Rrm1 T A 7: 102,465,703 probably null Het
Sacs T C 14: 61,206,121 V1872A possibly damaging Het
Setd2 T C 9: 110,549,571 V818A probably benign Het
Shprh C T 10: 11,178,757 L1037F possibly damaging Het
Slc24a3 A G 2: 145,616,681 D527G probably damaging Het
Slc27a6 T C 18: 58,598,751 probably benign Het
Slc35g3 A G 11: 69,760,917 F103L probably benign Het
Slc5a1 A G 5: 33,152,652 D408G probably damaging Het
Spag6l A T 16: 16,763,052 I477N probably damaging Het
Srgap1 A G 10: 122,047,132 V21A probably benign Het
Trim7 A G 11: 48,845,670 probably null Het
Trpa1 T C 1: 14,893,264 N578S possibly damaging Het
Xdh T C 17: 73,907,658 E764G probably damaging Het
Zfp518a G T 19: 40,915,310 V1228F probably damaging Het
Other mutations in Cops7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Cops7a APN 6 124962416 missense probably benign 0.00
rubric UTSW 6 124960176 missense probably damaging 1.00
H8562:Cops7a UTSW 6 124962453 unclassified probably benign
R0139:Cops7a UTSW 6 124961360 missense probably damaging 0.98
R0242:Cops7a UTSW 6 124964854 missense probably benign 0.00
R0242:Cops7a UTSW 6 124964854 missense probably benign 0.00
R1121:Cops7a UTSW 6 124962416 missense probably benign 0.00
R1662:Cops7a UTSW 6 124962438 missense probably damaging 0.96
R1935:Cops7a UTSW 6 124962396 nonsense probably null
R2920:Cops7a UTSW 6 124962362 missense probably benign 0.21
R3797:Cops7a UTSW 6 124959832 missense probably damaging 1.00
R3799:Cops7a UTSW 6 124959832 missense probably damaging 1.00
R3854:Cops7a UTSW 6 124959832 missense probably damaging 1.00
R5034:Cops7a UTSW 6 124962620 splice site probably null
R5858:Cops7a UTSW 6 124960171 missense possibly damaging 0.82
R6477:Cops7a UTSW 6 124960176 missense probably damaging 1.00
R6879:Cops7a UTSW 6 124958785 splice site probably null
Predicted Primers PCR Primer
(F):5'- AGTTCGACTTGGACCAAATCTTG -3'
(R):5'- AAAATCATCAGGGCCCGTC -3'

Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
Posted On2015-03-25