Incidental Mutation 'R8132:Cops7b'
ID 632048
Institutional Source Beutler Lab
Gene Symbol Cops7b
Ensembl Gene ENSMUSG00000026240
Gene Name COP9 signalosome subunit 7B
Synonyms D1Wsu66e, COP9 complex S7b
MMRRC Submission 067895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R8132 (G1)
Quality Score 181.009
Status Not validated
Chromosome 1
Chromosomal Location 86510363-86534550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86514916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 102 (G102V)
Ref Sequence ENSEMBL: ENSMUSP00000122317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027444] [ENSMUST00000027446] [ENSMUST00000121534] [ENSMUST00000122884] [ENSMUST00000138280] [ENSMUST00000143674] [ENSMUST00000149542] [ENSMUST00000146220]
AlphaFold Q8BV13
Predicted Effect probably benign
Transcript: ENSMUST00000027444
SMART Domains Protein: ENSMUSP00000027444
Gene: ENSMUSG00000026239

DomainStartEndE-ValueType
Pfam:GMP_PDE_delta 9 149 1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027446
SMART Domains Protein: ENSMUSP00000027446
Gene: ENSMUSG00000026240

DomainStartEndE-ValueType
PINT 87 177 2.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121534
SMART Domains Protein: ENSMUSP00000113587
Gene: ENSMUSG00000026240

DomainStartEndE-ValueType
PINT 87 177 2.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122884
SMART Domains Protein: ENSMUSP00000119807
Gene: ENSMUSG00000026240

DomainStartEndE-ValueType
PDB:3CHM|A 4 78 4e-9 PDB
Blast:PINT 30 54 7e-8 BLAST
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: ENSMUST00000143674
SMART Domains Protein: ENSMUSP00000137956
Gene: ENSMUSG00000026239

DomainStartEndE-ValueType
Pfam:GMP_PDE_delta 7 64 4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149542
AA Change: G102V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122317
Gene: ENSMUSG00000026240
AA Change: G102V

DomainStartEndE-ValueType
low complexity region 137 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146220
SMART Domains Protein: ENSMUSP00000137820
Gene: ENSMUSG00000026239

DomainStartEndE-ValueType
Pfam:GMP_PDE_delta 7 124 6.9e-41 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Abhd16b G A 2: 181,135,760 (GRCm39) A221T probably damaging Het
Arhgef1 C T 7: 24,607,087 (GRCm39) probably benign Het
Arhgef1 C T 7: 24,619,174 (GRCm39) Q472* probably null Het
Calr3 C T 8: 73,181,023 (GRCm39) G298S probably damaging Het
Chrng A G 1: 87,133,718 (GRCm39) T15A unknown Het
CK137956 T A 4: 127,845,075 (GRCm39) K223* probably null Het
Clca3b A T 3: 144,552,935 (GRCm39) S97T probably benign Het
Dennd1a T A 2: 37,748,072 (GRCm39) S382C probably damaging Het
Fdps G A 3: 89,006,693 (GRCm39) Q66* probably null Het
Gemin4 T C 11: 76,103,739 (GRCm39) T341A probably benign Het
Grk3 A G 5: 113,109,355 (GRCm39) S201P unknown Het
Hgf C T 5: 16,807,329 (GRCm39) T407I probably damaging Het
Hip1r C T 5: 124,135,290 (GRCm39) R446C probably damaging Het
Hyal6 A T 6: 24,740,827 (GRCm39) I327L possibly damaging Het
Ifna15 T C 4: 88,475,920 (GRCm39) E188G possibly damaging Het
Igip A G 18: 36,434,266 (GRCm39) S11G probably benign Het
Igkv5-39 A G 6: 69,877,589 (GRCm39) Y56H probably damaging Het
Jph1 G A 1: 17,086,379 (GRCm39) T381I probably damaging Het
Lrrc55 T C 2: 85,022,259 (GRCm39) I311V probably benign Het
Mrps35 T A 6: 146,949,661 (GRCm39) D58E probably benign Het
Ms4a4d C A 19: 11,535,310 (GRCm39) P203T probably benign Het
Naip1 T G 13: 100,573,883 (GRCm39) E225D possibly damaging Het
Ncapg2 T A 12: 116,407,967 (GRCm39) I989N possibly damaging Het
Nek3 A T 8: 22,647,036 (GRCm39) Y166* probably null Het
Nphs1 A G 7: 30,181,478 (GRCm39) E1169G probably benign Het
Nudt15 G A 14: 73,759,099 (GRCm39) P123L probably benign Het
Or10c1 T A 17: 37,522,207 (GRCm39) E179V probably damaging Het
Or10q1b G A 19: 13,682,584 (GRCm39) C131Y probably damaging Het
Or5ac22 T C 16: 59,134,907 (GRCm39) I288V possibly damaging Het
Or6k14 T A 1: 173,927,737 (GRCm39) S238T probably damaging Het
Or8a1b C T 9: 37,623,369 (GRCm39) V69M probably benign Het
Pcdha5 T C 18: 37,093,694 (GRCm39) S68P possibly damaging Het
Plec G T 15: 76,074,773 (GRCm39) A330E unknown Het
Rpa3 A C 6: 8,256,790 (GRCm39) I63S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Snap25 A T 2: 136,611,748 (GRCm39) K83N probably benign Het
Sos1 T G 17: 80,716,031 (GRCm39) Q977P probably damaging Het
Spag16 A G 1: 70,420,461 (GRCm39) Y483C probably damaging Het
Speg A G 1: 75,399,639 (GRCm39) E2362G probably damaging Het
Swap70 A G 7: 109,855,084 (GRCm39) D128G probably damaging Het
Syngap1 G A 17: 27,177,154 (GRCm39) M545I probably damaging Het
Tdpoz6 G A 3: 93,599,452 (GRCm39) Q306* probably null Het
Tmem147 T C 7: 30,427,872 (GRCm39) E110G probably damaging Het
Tmem156 T A 5: 65,233,098 (GRCm39) I155F probably benign Het
Trim25 C A 11: 88,907,432 (GRCm39) A597E probably damaging Het
Ttc7b T C 12: 100,413,131 (GRCm39) Y229C probably damaging Het
Utrn T A 10: 12,558,154 (GRCm39) Q1435L probably damaging Het
Zbtb41 T C 1: 139,350,955 (GRCm39) S23P probably benign Het
Zeb2 T A 2: 44,879,142 (GRCm39) I1075F probably damaging Het
Other mutations in Cops7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Cops7b APN 1 86,528,828 (GRCm39) missense probably damaging 1.00
IGL02505:Cops7b APN 1 86,520,043 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TCCTCAGCCTCAATCTAGGTGG -3'
(R):5'- ACTAGAGTGGACGTCAGGAC -3'

Sequencing Primer
(F):5'- CCTCAATCTAGGTGGGAGGTG -3'
(R):5'- GTCTTGCTCGTAGCCACCAG -3'
Posted On 2020-06-30