Incidental Mutation 'R7243:Cog6'
ID 563336
Institutional Source Beutler Lab
Gene Symbol Cog6
Ensembl Gene ENSMUSG00000027742
Gene Name component of oligomeric golgi complex 6
Synonyms
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 52889544-52924644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52909736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 314 (W314R)
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: W314R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: W314R

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
COG6 55 656 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000193432
AA Change: W314R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: W314R

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 0.9480 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q probably 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
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
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'- GGGTCTCTAAGGATAACAAGATGC -3'
(R):5'- TGAATTTGGAACGGCCCGAC -3'

Sequencing Primer
(F):5'- CAAGATGCTCATGTGGCATC -3'
(R):5'- CGACGAAGCACTGTTGTTC -3'
Posted On 2019-06-26