Incidental Mutation 'IGL02934:Cog3'
ID 364234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02934
Quality Score
Status
Chromosome 14
Chromosomal Location 75702350-75754517 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75741689 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 206 (I206V)
Ref Sequence ENSEMBL: ENSMUSP00000045016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049168
AA Change: I206V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: I206V

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Sec34 130 277 9.5e-57 PFAM
Blast:HisKA 745 810 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226686
Predicted Effect probably damaging
Transcript: ENSMUST00000227473
AA Change: I196V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
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 conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Ctdspl2 T C 2: 121,979,009 V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Fut1 A G 7: 45,618,703 H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 T372A probably benign Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Perp A T 10: 18,855,772 T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Spdya A T 17: 71,556,400 N48I probably benign Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Cog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Cog3 APN 14 75730604 missense possibly damaging 0.79
IGL02637:Cog3 APN 14 75722196 splice site probably benign
R0105:Cog3 UTSW 14 75722140 missense probably damaging 0.99
R0105:Cog3 UTSW 14 75722140 missense probably damaging 0.99
R0403:Cog3 UTSW 14 75742327 splice site probably benign
R0972:Cog3 UTSW 14 75717170 missense probably benign
R1735:Cog3 UTSW 14 75729321 nonsense probably null
R1813:Cog3 UTSW 14 75742344 missense probably benign 0.03
R1896:Cog3 UTSW 14 75742344 missense probably benign 0.03
R2517:Cog3 UTSW 14 75741742 missense probably benign 0.01
R2567:Cog3 UTSW 14 75754290 missense probably benign
R2962:Cog3 UTSW 14 75740534 critical splice donor site probably null
R3103:Cog3 UTSW 14 75747201 critical splice acceptor site probably null
R3689:Cog3 UTSW 14 75754438 start codon destroyed probably null
R3691:Cog3 UTSW 14 75754438 start codon destroyed probably null
R3927:Cog3 UTSW 14 75743558 splice site probably benign
R4581:Cog3 UTSW 14 75732951 missense probably benign 0.04
R4932:Cog3 UTSW 14 75732954 missense probably damaging 0.98
R5560:Cog3 UTSW 14 75729393 missense probably damaging 1.00
R5654:Cog3 UTSW 14 75724799 missense probably benign 0.03
R6253:Cog3 UTSW 14 75719712 missense probably damaging 1.00
R6419:Cog3 UTSW 14 75724738 nonsense probably null
R6791:Cog3 UTSW 14 75730678 missense probably damaging 1.00
R6803:Cog3 UTSW 14 75704039 missense probably benign 0.00
R7015:Cog3 UTSW 14 75713276 missense possibly damaging 0.81
R7998:Cog3 UTSW 14 75747093 missense possibly damaging 0.94
R7999:Cog3 UTSW 14 75747093 missense possibly damaging 0.94
R8075:Cog3 UTSW 14 75730702 missense probably damaging 1.00
R8294:Cog3 UTSW 14 75717179 missense probably damaging 1.00
R8329:Cog3 UTSW 14 75740563 missense probably damaging 0.99
R8434:Cog3 UTSW 14 75742396 missense probably damaging 1.00
R9170:Cog3 UTSW 14 75729362 missense probably damaging 1.00
X0017:Cog3 UTSW 14 75741741 missense probably benign 0.01
X0021:Cog3 UTSW 14 75743593 missense possibly damaging 0.87
X0066:Cog3 UTSW 14 75741741 missense probably benign 0.01
Posted On 2015-12-18