Incidental Mutation 'R8132:Cops7b'
Institutional Source Beutler Lab
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: 0.209) question?
Stock #R8132 (G1)
Quality Score181.009
Status Not validated
Chromosomal Location86582904-86609375 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 86587194 bp
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] [ENSMUST00000146220] [ENSMUST00000149542]
Predicted Effect probably benign
Transcript: ENSMUST00000027444
SMART Domains Protein: ENSMUSP00000027444
Gene: ENSMUSG00000026239

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

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

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

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

Blast:PINT 30 54 9e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143674
SMART Domains Protein: ENSMUSP00000137956
Gene: ENSMUSG00000026239

Pfam:GMP_PDE_delta 7 64 4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146220
SMART Domains Protein: ENSMUSP00000137820
Gene: ENSMUSG00000026239

Pfam:GMP_PDE_delta 7 124 6.9e-41 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

low complexity region 137 148 N/A INTRINSIC
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: 123,965,018 A403T Het
Abhd16b G A 2: 181,493,967 A221T probably damaging Het
Arhgef1 C T 7: 24,919,749 Q472* probably null Het
Arhgef1 C T 7: 24,907,662 probably benign Het
Calr3 C T 8: 72,427,179 G298S probably damaging Het
Chrng A G 1: 87,205,996 T15A unknown Het
CK137956 T A 4: 127,951,282 K223* probably null Het
Clca3b A T 3: 144,847,174 S97T probably benign Het
Dennd1a T A 2: 37,858,060 S382C probably damaging Het
Fdps G A 3: 89,099,386 Q66* probably null Het
Gemin4 T C 11: 76,212,913 T341A probably benign Het
Gm37596 G A 3: 93,692,145 Q306* probably null Het
Grk3 A G 5: 112,961,489 S201P unknown Het
Hgf C T 5: 16,602,331 T407I probably damaging Het
Hip1r C T 5: 123,997,227 R446C probably damaging Het
Hyal6 A T 6: 24,740,828 I327L possibly damaging Het
Ifna15 T C 4: 88,557,683 E188G possibly damaging Het
Igip A G 18: 36,301,213 S11G probably benign Het
Igkv5-39 A G 6: 69,900,605 Y56H probably damaging Het
Jph1 G A 1: 17,016,155 T381I probably damaging Het
Lrrc55 T C 2: 85,191,915 I311V probably benign Het
Mrps35 T A 6: 147,048,163 D58E probably benign Het
Ms4a4d C A 19: 11,557,946 P203T probably benign Het
Naip1 T G 13: 100,437,375 E225D possibly damaging Het
Ncapg2 T A 12: 116,444,347 I989N possibly damaging Het
Nek3 A T 8: 22,157,020 Y166* probably null Het
Nphs1 A G 7: 30,482,053 E1169G probably benign Het
Nudt15 G A 14: 73,521,659 P123L probably benign Het
Olfr1491 G A 19: 13,705,220 C131Y probably damaging Het
Olfr160 C T 9: 37,712,073 V69M probably benign Het
Olfr204 T C 16: 59,314,544 I288V possibly damaging Het
Olfr427 T A 1: 174,100,171 S238T probably damaging Het
Olfr95 T A 17: 37,211,316 E179V probably damaging Het
Pcdha5 T C 18: 36,960,641 S68P possibly damaging Het
Plec G T 15: 76,190,573 A330E unknown Het
Rpa3 A C 6: 8,256,790 I63S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,579,908 probably benign Het
Snap25 A T 2: 136,769,828 K83N probably benign Het
Sos1 T G 17: 80,408,602 Q977P probably damaging Het
Spag16 A G 1: 70,381,302 Y483C probably damaging Het
Speg A G 1: 75,422,995 E2362G probably damaging Het
Swap70 A G 7: 110,255,877 D128G probably damaging Het
Syngap1 G A 17: 26,958,180 M545I probably damaging Het
Tmem147 T C 7: 30,728,447 E110G probably damaging Het
Tmem156 T A 5: 65,075,755 I155F probably benign Het
Trim25 C A 11: 89,016,606 A597E probably damaging Het
Ttc7b T C 12: 100,446,872 Y229C probably damaging Het
Utrn T A 10: 12,682,410 Q1435L probably damaging Het
Zbtb41 T C 1: 139,423,217 S23P probably benign Het
Zeb2 T A 2: 44,989,130 I1075F probably damaging Het
Other mutations in Cops7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Cops7b APN 1 86601106 missense probably damaging 1.00
IGL02505:Cops7b APN 1 86592321 missense probably benign 0.01
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-06-30