Incidental Mutation 'R1662:Cops7a'
ID 186840
Institutional Source Beutler Lab
Gene Symbol Cops7a
Ensembl Gene ENSMUSG00000030127
Gene Name COP9 signalosome subunit 7A
Synonyms COP9 complex S7a, D6Ertd35e
MMRRC Submission 039698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1662 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124935376-124942501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124939401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 83 (R83W)
Ref Sequence ENSEMBL: ENSMUSP00000114420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032220] [ENSMUST00000112439] [ENSMUST00000129446] [ENSMUST00000129976] [ENSMUST00000148485]
AlphaFold Q9CZ04
Predicted Effect possibly damaging
Transcript: ENSMUST00000032220
AA Change: R83W

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: R83W

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 possibly damaging
Transcript: ENSMUST00000112439
AA Change: R83W

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: R83W

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 damaging
Transcript: ENSMUST00000129446
AA Change: R83W

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114420
Gene: ENSMUSG00000030127
AA Change: R83W

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 176 2e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000129976
AA Change: R83W

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127
AA Change: R83W

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik T A 4: 126,505,475 (GRCm39) M1K probably null Het
5730507C01Rik A C 12: 18,581,967 (GRCm39) R119S possibly damaging Het
Abca1 T A 4: 53,090,251 (GRCm39) probably null Het
Aff1 G A 5: 103,988,923 (GRCm39) G830D probably damaging Het
AI987944 T C 7: 41,023,873 (GRCm39) T369A possibly damaging Het
Aoah A G 13: 21,184,283 (GRCm39) probably null Het
Arhgap40 C G 2: 158,381,190 (GRCm39) C349W probably damaging Het
Atic T A 1: 71,615,286 (GRCm39) D438E probably benign Het
Barhl2 A T 5: 106,601,365 (GRCm39) M338K probably benign Het
Btd T C 14: 31,388,747 (GRCm39) V156A probably damaging Het
Catspere2 A G 1: 177,874,552 (GRCm39) K140E unknown Het
Ccdc82 T C 9: 13,262,397 (GRCm39) V319A probably damaging Het
Celsr1 G T 15: 85,915,263 (GRCm39) N903K probably damaging Het
Cenpf T A 1: 189,389,968 (GRCm39) N1288I probably damaging Het
Ciao1 G A 2: 127,086,857 (GRCm39) T252I probably benign Het
Cma2 T C 14: 56,210,573 (GRCm39) C87R probably damaging Het
Cxcr6 A T 9: 123,639,613 (GRCm39) M205L possibly damaging Het
Dcc A G 18: 71,553,409 (GRCm39) L749P probably benign Het
Dync1i2 C T 2: 71,081,323 (GRCm39) T484I possibly damaging Het
Epas1 A T 17: 87,136,455 (GRCm39) K742N probably damaging Het
Evc2 A G 5: 37,506,094 (GRCm39) T138A probably benign Het
F5 T C 1: 164,035,457 (GRCm39) I1877T probably damaging Het
Fat1 T G 8: 45,406,201 (GRCm39) V984G probably benign Het
Fat4 T A 3: 39,034,928 (GRCm39) V2860D probably damaging Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gapdhs C T 7: 30,436,427 (GRCm39) R120H probably damaging Het
Gcnt3 T C 9: 69,941,659 (GRCm39) D303G probably benign Het
Gng11 A T 6: 4,008,066 (GRCm39) Y43F probably benign Het
Hectd4 A C 5: 121,455,308 (GRCm39) M651L probably benign Het
Ifngr2 T A 16: 91,357,484 (GRCm39) Y200N probably benign Het
Iqgap3 T C 3: 88,005,708 (GRCm39) V512A probably benign Het
Kdm2a A C 19: 4,378,240 (GRCm39) D187E probably damaging Het
Klhl8 A G 5: 104,019,911 (GRCm39) V370A probably damaging Het
Kmt2a G A 9: 44,747,967 (GRCm39) probably benign Het
Krt12 C A 11: 99,311,650 (GRCm39) V184F probably benign Het
Lrrc8c A T 5: 105,754,623 (GRCm39) I133F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1a C G 2: 121,136,889 (GRCm39) S2568R possibly damaging Het
Mbnl1 C A 3: 60,532,593 (GRCm39) Q301K probably damaging Het
Med12l A T 3: 59,001,038 (GRCm39) K724N probably damaging Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Mybph C T 1: 134,121,374 (GRCm39) P45S probably benign Het
Myo15a T A 11: 60,392,527 (GRCm39) S2157T probably damaging Het
Or14j2 G T 17: 37,886,164 (GRCm39) T50K probably damaging Het
Or1ab2 T C 8: 72,863,623 (GRCm39) V71A probably benign Het
Or2t35 T A 14: 14,407,880 (GRCm38) Y217* probably null Het
Or5h25 T C 16: 58,930,967 (GRCm39) E2G probably benign Het
Otogl A G 10: 107,634,218 (GRCm39) I1419T possibly damaging Het
Ovol1 A T 19: 5,601,667 (GRCm39) F118L probably damaging Het
Pak5 T C 2: 135,958,680 (GRCm39) D136G probably damaging Het
Pik3r2 T C 8: 71,223,250 (GRCm39) Y417C probably damaging Het
Ppp2r2a T C 14: 67,254,052 (GRCm39) N372S probably benign Het
Prss30 G T 17: 24,191,806 (GRCm39) N238K possibly damaging Het
Prss33 C A 17: 24,053,785 (GRCm39) probably null Het
Ptpn4 T C 1: 119,692,788 (GRCm39) E187G probably damaging Het
Ptprg A T 14: 12,207,357 (GRCm38) N100I probably damaging Het
Rbpms2 T C 9: 65,558,324 (GRCm39) V130A probably benign Het
Rdh7 A T 10: 127,724,481 (GRCm39) M1K probably null Het
Rtp3 A C 9: 110,815,751 (GRCm39) S205A probably benign Het
Ryr3 G T 2: 112,539,618 (GRCm39) D3207E probably damaging Het
Scn9a T A 2: 66,313,803 (GRCm39) T1972S probably benign Het
Scnn1b T C 7: 121,501,551 (GRCm39) V122A probably benign Het
Slc15a4 A G 5: 127,686,043 (GRCm39) L213S probably damaging Het
Slc27a5 T A 7: 12,725,173 (GRCm39) I425F probably damaging Het
Spata31d1b A G 13: 59,864,442 (GRCm39) D530G probably benign Het
Tcf25 T A 8: 124,108,289 (GRCm39) S115T probably benign Het
Tet2 A G 3: 133,172,613 (GRCm39) L1883P possibly damaging Het
Trim21 T A 7: 102,211,105 (GRCm39) R205* probably null Het
Ttc23 G T 7: 67,375,069 (GRCm39) probably null Het
Tut7 T C 13: 59,947,717 (GRCm39) E466G possibly damaging Het
Unc13d T C 11: 115,959,499 (GRCm39) K658R probably null Het
Vmn1r43 A G 6: 89,846,572 (GRCm39) F305L possibly damaging Het
Vmn2r2 A T 3: 64,024,551 (GRCm39) C677S probably benign Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Ythdc1 G A 5: 86,975,981 (GRCm39) probably null Het
Zdbf2 A T 1: 63,343,408 (GRCm39) R596* probably null 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
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
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'- AGGCCAATGGCTCTCCTTAGACTC -3'
(R):5'- AGAAAGCGACTTTGCCTCCACC -3'

Sequencing Primer
(F):5'- GCTCTCCTTAGACTCCCTGG -3'
(R):5'- TATGGGACCTATGCGGACTAC -3'
Posted On 2014-05-09