Incidental Mutation 'R4551:Cog6'
ID 333940
Institutional Source Beutler Lab
Gene Symbol Cog6
Ensembl Gene ENSMUSG00000027742
Gene Name component of oligomeric golgi complex 6
Synonyms
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4551 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 52889544-52924644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52905741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 96 (E96V)
Ref Sequence ENSEMBL: ENSMUSP00000141733 (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: E368V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: E368V

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: E368V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: E368V

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 damaging
Transcript: ENSMUST00000195183
AA Change: E96V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742
AA Change: E96V

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
Pfam:COG6 39 174 5.5e-32 PFAM
Meta Mutation Damage Score 0.1975 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cox20 A C 1: 178,150,114 (GRCm39) N96T probably benign Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Tmem236 A T 2: 14,223,964 (GRCm39) Q251L probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A 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
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
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'- GGTCTCACTCAATGATACGCAC -3'
(R):5'- CGCGTGTTGAGTCACTTTTAACAG -3'

Sequencing Primer
(F):5'- GTCTCACTCAATGATACGCACAGTAG -3'
(R):5'- GTGATTGCTACAGCAATGAA -3'
Posted On 2015-08-18