Incidental Mutation 'R0045:Cog6'
ID 218393
Institutional Source Beutler Lab
Gene Symbol Cog6
Ensembl Gene ENSMUSG00000027742
Gene Name component of oligomeric golgi complex 6
Synonyms
MMRRC Submission 038339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0045 (G1)
Quality Score 55
Status Validated
Chromosome 3
Chromosomal Location 52889544-52924644 bp(-) (GRCm39)
Type of Mutation splice site (767 bp from exon)
DNA Base Change (assembly) T to C at 52900171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036665] [ENSMUST00000193432] [ENSMUST00000195183]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036665
SMART Domains Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 656 N/A SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192788
Predicted Effect probably benign
Transcript: ENSMUST00000193432
SMART Domains Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 625 5e-289 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194779
Predicted Effect probably null
Transcript: ENSMUST00000195183
SMART Domains Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
Pfam:COG6 39 174 5.5e-32 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,220,148 (GRCm39) N299S probably damaging Het
Abi3 A G 11: 95,723,541 (GRCm39) *368R probably null Het
Agbl1 T C 7: 76,348,588 (GRCm39) probably null Het
Ap3b2 T C 7: 81,115,941 (GRCm39) D650G possibly damaging Het
Arhgap30 A G 1: 171,235,998 (GRCm39) S791G probably benign Het
Arvcf T A 16: 18,222,208 (GRCm39) L722Q probably benign Het
Ascc3 C T 10: 50,594,498 (GRCm39) R1198* probably null Het
Atf2 G T 2: 73,660,200 (GRCm39) T189N probably benign Het
Atf7ip A G 6: 136,536,814 (GRCm39) K16E probably damaging Het
Atg9b G T 5: 24,592,396 (GRCm39) Q621K probably damaging Het
Atp12a G A 14: 56,610,330 (GRCm39) E234K probably damaging Het
C8a T C 4: 104,684,012 (GRCm39) K368E probably benign Het
Ccdc168 T C 1: 44,096,365 (GRCm39) K1578E probably benign Het
Cdh23 T C 10: 60,366,757 (GRCm39) Y241C probably damaging Het
Cdon G A 9: 35,398,103 (GRCm39) S940N probably benign Het
Cds2 G T 2: 132,147,075 (GRCm39) G402V possibly damaging Het
Commd10 T C 18: 47,100,903 (GRCm39) S114P possibly damaging Het
Dram2 T C 3: 106,478,133 (GRCm39) V155A possibly damaging Het
Egr2 T A 10: 67,376,310 (GRCm39) V252E probably benign Het
Exoc3l C T 8: 106,020,317 (GRCm39) V203M probably damaging Het
Fsip1 C A 2: 118,078,773 (GRCm39) probably null Het
Gm10840 C A 11: 106,051,926 (GRCm39) probably benign Het
Gpr37l1 A G 1: 135,088,883 (GRCm39) L394P probably damaging Het
Gsap T C 5: 21,431,830 (GRCm39) M243T possibly damaging Het
Hsd3b5 T A 3: 98,526,460 (GRCm39) I329F probably benign Het
Htra1 T A 7: 130,563,262 (GRCm39) S164R probably damaging Het
Il17b G A 18: 61,823,315 (GRCm39) V50M probably damaging Het
Itga4 A T 2: 79,131,375 (GRCm39) Y581F probably damaging Het
Jmjd8 A G 17: 26,048,255 (GRCm39) E92G probably damaging Het
Kcnq4 T A 4: 120,555,152 (GRCm39) D677V probably damaging Het
Klhl42 A G 6: 146,993,666 (GRCm39) T213A probably benign Het
Lcn5 T C 2: 25,550,710 (GRCm39) S133P probably damaging Het
Liph T C 16: 21,786,803 (GRCm39) Y271C probably damaging Het
Lpcat3 T C 6: 124,678,437 (GRCm39) I228T probably benign Het
Lrrd1 A G 5: 3,916,418 (GRCm39) K812E possibly damaging Het
Ltbp2 T C 12: 84,860,062 (GRCm39) T631A probably damaging Het
Ltbp2 G A 12: 84,856,361 (GRCm39) T701I probably damaging Het
Mavs G A 2: 131,080,751 (GRCm39) R13Q probably damaging Het
Mtor C G 4: 148,549,406 (GRCm39) H597D probably benign Het
Muc5b T A 7: 141,410,555 (GRCm39) H1309Q unknown Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Nnat A T 2: 157,402,408 (GRCm39) probably benign Het
Or14c40 T C 7: 86,313,548 (GRCm39) L226S possibly damaging Het
Or2ag19 T A 7: 106,444,596 (GRCm39) Y259* probably null Het
Or5h17 G A 16: 58,820,854 (GRCm39) D269N probably benign Het
Or7e175 A T 9: 20,048,487 (GRCm39) Q25L probably benign Het
Pclo C T 5: 14,589,485 (GRCm39) A595V unknown Het
Pcsk6 T A 7: 65,612,676 (GRCm39) C315S probably damaging Het
Pkd2 T A 5: 104,603,671 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,606 (GRCm39) I155F probably damaging Het
Rapgef4 A G 2: 72,029,122 (GRCm39) H398R possibly damaging Het
Ripor2 A G 13: 24,878,209 (GRCm39) D328G probably damaging Het
Rpgrip1 A T 14: 52,378,601 (GRCm39) T509S possibly damaging Het
Sh3pxd2a A G 19: 47,255,622 (GRCm39) I1032T probably damaging Het
Slc25a13 A T 6: 6,109,277 (GRCm39) S362T probably benign Het
Stk35 A T 2: 129,642,488 (GRCm39) R10* probably null Het
Tal1 A G 4: 114,925,762 (GRCm39) D277G probably damaging Het
Tecta G A 9: 42,286,487 (GRCm39) T723I probably damaging Het
Trp53bp1 A C 2: 121,034,978 (GRCm39) V103G probably benign Het
Trpv4 A G 5: 114,774,518 (GRCm39) S189P probably benign Het
Ttll5 T G 12: 85,926,133 (GRCm39) probably benign Het
Usp8 A G 2: 126,584,143 (GRCm39) T451A probably benign Het
Vac14 G A 8: 111,363,584 (GRCm39) D340N probably benign Het
Vars1 C A 17: 35,217,042 (GRCm39) A471S probably benign Het
Vars1 A T 17: 35,229,595 (GRCm39) H404L probably damaging Het
Vmn2r70 T C 7: 85,215,252 (GRCm39) N94S probably damaging Het
Vpreb1b T C 16: 17,798,631 (GRCm39) L39P probably damaging Het
Vps13a A T 19: 16,618,174 (GRCm39) L693* probably null Het
Wapl A G 14: 34,455,751 (GRCm39) I176V probably benign Het
Wdr31 G T 4: 62,382,270 (GRCm39) L4I possibly damaging Het
Other mutations in Cog6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01922:Cog6 APN 3 52,893,846 (GRCm39) missense probably benign 0.03
IGL01946:Cog6 APN 3 52,909,825 (GRCm39) intron probably benign
IGL02122:Cog6 APN 3 52,905,763 (GRCm39) missense probably benign 0.04
IGL02589:Cog6 APN 3 52,914,691 (GRCm39) missense probably damaging 1.00
IGL02819:Cog6 APN 3 52,916,966 (GRCm39) missense probably damaging 0.98
R0045:Cog6 UTSW 3 52,900,171 (GRCm39) splice site probably null
R0086:Cog6 UTSW 3 52,900,991 (GRCm39) missense probably damaging 0.98
R0545:Cog6 UTSW 3 52,903,496 (GRCm39) missense probably damaging 1.00
R0707:Cog6 UTSW 3 52,921,283 (GRCm39) missense possibly damaging 0.71
R0718:Cog6 UTSW 3 52,918,050 (GRCm39) missense probably benign 0.35
R1169:Cog6 UTSW 3 52,921,265 (GRCm39) missense probably benign 0.30
R1451:Cog6 UTSW 3 52,916,534 (GRCm39) missense possibly damaging 0.78
R1891:Cog6 UTSW 3 52,890,601 (GRCm39) missense probably benign
R2249:Cog6 UTSW 3 52,907,900 (GRCm39) critical splice donor site probably null
R2264:Cog6 UTSW 3 52,900,332 (GRCm39) nonsense probably null
R3745:Cog6 UTSW 3 52,900,240 (GRCm39) missense probably benign 0.05
R4027:Cog6 UTSW 3 52,909,950 (GRCm39) missense possibly damaging 0.95
R4230:Cog6 UTSW 3 52,900,229 (GRCm39) missense probably benign 0.13
R4400:Cog6 UTSW 3 52,920,362 (GRCm39) missense probably benign 0.11
R4551:Cog6 UTSW 3 52,905,741 (GRCm39) missense probably damaging 1.00
R4866:Cog6 UTSW 3 52,918,019 (GRCm39) missense probably benign 0.10
R5326:Cog6 UTSW 3 52,921,237 (GRCm39) missense probably null 0.12
R6169:Cog6 UTSW 3 52,914,722 (GRCm39) missense probably benign 0.03
R6273:Cog6 UTSW 3 52,903,473 (GRCm39) missense probably damaging 1.00
R7169:Cog6 UTSW 3 52,897,387 (GRCm39) missense possibly damaging 0.94
R7199:Cog6 UTSW 3 52,890,610 (GRCm39) missense probably benign 0.21
R7243:Cog6 UTSW 3 52,909,736 (GRCm39) missense probably damaging 1.00
R7299:Cog6 UTSW 3 52,909,928 (GRCm39) missense probably benign 0.01
R8254:Cog6 UTSW 3 52,900,938 (GRCm39) missense probably benign
R8687:Cog6 UTSW 3 52,892,338 (GRCm39) missense probably benign
R8759:Cog6 UTSW 3 52,897,465 (GRCm39) missense probably damaging 1.00
R8827:Cog6 UTSW 3 52,890,535 (GRCm39) missense probably benign
R9539:Cog6 UTSW 3 52,914,722 (GRCm39) missense probably benign 0.03
R9688:Cog6 UTSW 3 52,916,528 (GRCm39) missense probably benign 0.03
R9729:Cog6 UTSW 3 52,900,907 (GRCm39) missense probably damaging 0.98
Z1177:Cog6 UTSW 3 52,921,285 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATCTGCATAGCACTGAACATTCAAG -3'
(R):5'- GGCTATACATCCTGGACCATCTCCTG -3'

Sequencing Primer
(F):5'- AGTCCATCAGAGAGCTTCCTG -3'
(R):5'- AAATAATCCATTTCCTTGTCATTTGC -3'
Posted On 2014-08-06