Incidental Mutation 'IGL02819:Cog6'
ID 360904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog6
Ensembl Gene ENSMUSG00000027742
Gene Name component of oligomeric golgi complex 6
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02819
Quality Score
Status
Chromosome 3
Chromosomal Location 52889544-52924644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52916966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 184 (K184M)
Ref Sequence ENSEMBL: ENSMUSP00000048603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036665] [ENSMUST00000193432] [ENSMUST00000195183]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036665
AA Change: K184M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: K184M

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 656 N/A SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193043
Predicted Effect possibly damaging
Transcript: ENSMUST00000193432
AA Change: K184M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: K184M

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
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D 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
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
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
Posted On 2015-12-18