Incidental Mutation 'R4027:Cog6'
ID 313016
Institutional Source Beutler Lab
Gene Symbol Cog6
Ensembl Gene ENSMUSG00000027742
Gene Name component of oligomeric golgi complex 6
Synonyms
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 52889544-52924644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52909950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 267 (D267E)
Ref Sequence ENSEMBL: ENSMUSP00000141339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036665] [ENSMUST00000193432] [ENSMUST00000195183]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000036665
AA Change: D267E

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: D267E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 656 N/A SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192788
Predicted Effect possibly damaging
Transcript: ENSMUST00000193432
AA Change: D267E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: D267E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 625 5e-289 SMART
Predicted Effect probably benign
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 0.2853 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign 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
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
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'- TTAGTAAAGACGCTCCAGGGG -3'
(R):5'- TGCTCTTGGTCCAAAGCATTCC -3'

Sequencing Primer
(F):5'- GAAAGAGTCTAATCCTCTCCTAGGG -3'
(R):5'- GGTCCAAAGCATTCCTTCTTTGAAG -3'
Posted On 2015-04-30