Incidental Mutation 'IGL02505:Cops7b'
ID296275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops7b
Ensembl Gene ENSMUSG00000026240
Gene NameCOP9 signalosome subunit 7B
SynonymsCOP9 complex S7b, D1Wsu66e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.241) question?
Stock #IGL02505
Quality Score
Status
Chromosome1
Chromosomal Location86582904-86609375 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 86592321 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 65 (Q65K)
Ref Sequence ENSEMBL: ENSMUSP00000119807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027446] [ENSMUST00000121534] [ENSMUST00000122884] [ENSMUST00000138280] [ENSMUST00000149542]
Predicted Effect probably benign
Transcript: ENSMUST00000027446
AA Change: Q65K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027446
Gene: ENSMUSG00000026240
AA Change: Q65K

DomainStartEndE-ValueType
PINT 87 177 2.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121534
AA Change: Q65K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113587
Gene: ENSMUSG00000026240
AA Change: Q65K

DomainStartEndE-ValueType
PINT 87 177 2.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122884
AA Change: Q65K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119807
Gene: ENSMUSG00000026240
AA Change: Q65K

DomainStartEndE-ValueType
PDB:3CHM|A 4 78 4e-9 PDB
Blast:PINT 30 54 7e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127219
Predicted Effect probably benign
Transcript: ENSMUST00000138280
SMART Domains Protein: ENSMUSP00000115056
Gene: ENSMUSG00000026240

DomainStartEndE-ValueType
Blast:PINT 30 54 9e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000149542
SMART Domains Protein: ENSMUSP00000122317
Gene: ENSMUSG00000026240

DomainStartEndE-ValueType
low complexity region 137 148 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Cops7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Cops7b APN 1 86601106 missense probably damaging 1.00
IGL03134:Cops7b UTSW 1 86592334 missense probably damaging 1.00
R0423:Cops7b UTSW 1 86599031 missense probably benign 0.07
R0479:Cops7b UTSW 1 86605076 missense probably benign 0.00
R1442:Cops7b UTSW 1 86605113 missense probably benign 0.00
R5004:Cops7b UTSW 1 86587410 unclassified probably benign
R5346:Cops7b UTSW 1 86583068 unclassified probably benign
R7406:Cops7b UTSW 1 86601130 missense probably benign 0.00
Posted On2015-04-16