Incidental Mutation 'IGL02505:Cops7b'
ID 296275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops7b
Ensembl Gene ENSMUSG00000026240
Gene Name COP9 signalosome subunit 7B
Synonyms D1Wsu66e, COP9 complex S7b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL02505
Quality Score
Status
Chromosome 1
Chromosomal Location 86510363-86534550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86520043 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BV13
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: 63,524,096 (GRCm39) L68M probably damaging Het
Abca13 T G 11: 9,531,498 (GRCm39) L4575W probably damaging Het
Abcb11 A T 2: 69,076,105 (GRCm39) V1201D probably damaging Het
Aldoa G T 7: 126,395,166 (GRCm39) A252E probably damaging Het
Ap1b1 C T 11: 4,981,700 (GRCm39) A536V probably benign Het
Arhgef3 A G 14: 27,115,957 (GRCm39) H233R possibly damaging Het
Arhgef40 A T 14: 52,238,320 (GRCm39) E1266D probably damaging Het
Atp1a4 C T 1: 172,062,642 (GRCm39) V622M probably damaging Het
Aup1 A G 6: 83,032,258 (GRCm39) T142A probably benign Het
Bcl6 A T 16: 23,796,319 (GRCm39) I36N probably damaging Het
Best1 A G 19: 9,966,514 (GRCm39) S358P probably damaging Het
Cadps T G 14: 12,449,759 (GRCm38) Q1150P probably damaging Het
Capn5 T A 7: 97,780,403 (GRCm39) E322D possibly damaging Het
Cd300ld2 A T 11: 114,904,513 (GRCm39) M118K probably benign Het
Cdh9 T C 15: 16,856,075 (GRCm39) L705P probably damaging Het
Cep170b T G 12: 112,709,504 (GRCm39) N436K probably damaging Het
Chil6 T A 3: 106,313,278 (GRCm39) I24F probably benign Het
Chmp2a T A 7: 12,767,782 (GRCm39) K48* probably null Het
Col19a1 C T 1: 24,339,665 (GRCm39) probably benign Het
Cyp2e1 T A 7: 140,349,069 (GRCm39) L133H probably damaging Het
Dkc1 T C X: 74,152,339 (GRCm39) probably benign Het
Erlec1 A G 11: 30,900,767 (GRCm39) Y134H probably damaging Het
F8 C A X: 74,423,204 (GRCm39) probably benign Het
Fus G A 7: 127,580,679 (GRCm39) R252Q possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gm15821 T C 17: 34,433,259 (GRCm39) probably benign Het
Gm5117 C A 8: 32,228,344 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,152 (GRCm39) I45V probably benign Het
Hectd1 A G 12: 51,847,496 (GRCm39) probably null Het
Ifi204 T C 1: 173,583,220 (GRCm39) K333E probably benign Het
Ildr1 G A 16: 36,536,526 (GRCm39) G185D probably damaging Het
Itgb2 G A 10: 77,383,052 (GRCm39) D141N probably damaging Het
Kdm1b G T 13: 47,214,331 (GRCm39) D226Y probably damaging Het
Krt77 A G 15: 101,769,381 (GRCm39) L460P probably damaging Het
Lamp3 A G 16: 19,474,207 (GRCm39) I389T possibly damaging Het
Macroh2a1 A G 13: 56,222,143 (GRCm39) V336A probably damaging Het
Mars1 C A 10: 127,140,113 (GRCm39) E414* probably null Het
Mpg T C 11: 32,180,042 (GRCm39) V190A probably damaging Het
Myh15 A G 16: 48,937,626 (GRCm39) I742M possibly damaging Het
Nell2 A T 15: 95,194,144 (GRCm39) probably benign Het
Nmur1 T C 1: 86,314,057 (GRCm39) D370G probably benign Het
Npsr1 A G 9: 24,009,578 (GRCm39) E28G probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or56a3 A T 7: 104,735,540 (GRCm39) I206L probably benign Het
Or7a42 G T 10: 78,791,767 (GRCm39) V243F probably benign Het
Or8b12c G A 9: 37,715,627 (GRCm39) C140Y probably benign Het
Pdzrn3 T C 6: 101,128,899 (GRCm39) N589S possibly damaging Het
Pkd1l3 T C 8: 110,359,848 (GRCm39) L901P probably damaging Het
Plekhg1 G T 10: 3,907,139 (GRCm39) K685N probably damaging Het
Prim1 T A 10: 127,865,652 (GRCm39) *419R probably null Het
Ptk2b G T 14: 66,391,692 (GRCm39) N905K probably damaging Het
Rbm34 T C 8: 127,676,071 (GRCm39) I395V probably benign Het
Rfx1 A G 8: 84,822,438 (GRCm39) E912G possibly damaging Het
Rngtt T C 4: 33,337,936 (GRCm39) V253A possibly damaging Het
Slc2a9 A G 5: 38,594,002 (GRCm39) Y169H possibly damaging Het
Slc49a4 G T 16: 35,555,928 (GRCm39) D177E probably benign Het
Susd4 C A 1: 182,719,645 (GRCm39) T420K probably benign Het
Tdrd3 G A 14: 87,749,118 (GRCm39) G676D probably damaging Het
Tec T C 5: 72,946,587 (GRCm39) K47E probably damaging Het
Tenm2 C A 11: 35,942,743 (GRCm39) G1308* probably null Het
Tmprss15 A T 16: 78,784,629 (GRCm39) D675E probably benign Het
Vmn1r84 A G 7: 12,096,346 (GRCm39) C104R probably damaging Het
Vmn2r49 T A 7: 9,710,378 (GRCm39) M785L probably benign Het
Vmn2r85 G T 10: 130,261,449 (GRCm39) T296K probably damaging Het
Wdr3 C T 3: 100,059,290 (GRCm39) S343N probably benign Het
Yju2 G T 17: 56,269,051 (GRCm39) G53V probably damaging Het
Zfp143 A T 7: 109,690,993 (GRCm39) M515L possibly damaging Het
Zfp735 A G 11: 73,580,626 (GRCm39) I42V probably benign Het
Zswim5 A T 4: 116,819,749 (GRCm39) M385L probably benign Het
Other mutations in Cops7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Cops7b APN 1 86,528,828 (GRCm39) missense probably damaging 1.00
IGL03134:Cops7b UTSW 1 86,520,056 (GRCm39) missense probably damaging 1.00
R0423:Cops7b UTSW 1 86,526,753 (GRCm39) missense probably benign 0.07
R0479:Cops7b UTSW 1 86,532,798 (GRCm39) missense probably benign 0.00
R1442:Cops7b UTSW 1 86,532,835 (GRCm39) missense probably benign 0.00
R5004:Cops7b UTSW 1 86,515,132 (GRCm39) unclassified probably benign
R5346:Cops7b UTSW 1 86,510,790 (GRCm39) unclassified probably benign
R7406:Cops7b UTSW 1 86,528,852 (GRCm39) missense probably benign 0.00
R8132:Cops7b UTSW 1 86,514,916 (GRCm39) missense probably damaging 1.00
R8806:Cops7b UTSW 1 86,517,031 (GRCm39) missense probably damaging 0.99
R8813:Cops7b UTSW 1 86,528,846 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16