Incidental Mutation 'R7015:Cog3'
ID 568464
Institutional Source Beutler Lab
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
MMRRC Submission 045116-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7015 (G1)
Quality Score 71.0074
Status Validated
Chromosome 14
Chromosomal Location 75939790-75991998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75950716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 719 (V719I)
Ref Sequence ENSEMBL: ENSMUSP00000045016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000049168
AA Change: V719I

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: V719I

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Sec34 130 277 9.5e-57 PFAM
Blast:HisKA 745 810 1e-5 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000227473
AA Change: V709I

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.2465 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 93% (55/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,902,738 (GRCm39) R3G possibly damaging Het
Abcc2 A G 19: 43,786,617 (GRCm39) I150V probably benign Het
Adgrb1 T C 15: 74,445,959 (GRCm39) L1085P probably damaging Het
Agbl4 A G 4: 110,335,697 (GRCm39) N24D probably damaging Het
Aox1 A G 1: 58,321,917 (GRCm39) T70A probably benign Het
Aplf G A 6: 87,618,884 (GRCm39) A399V probably damaging Het
Asxl3 A G 18: 22,656,978 (GRCm39) S1663G probably benign Het
Bcat1 G C 6: 144,985,309 (GRCm39) P43R probably damaging Het
Camk1 T C 6: 113,318,887 (GRCm39) R9G probably benign Het
Casp8ap2 T C 4: 32,644,278 (GRCm39) V1117A probably damaging Het
Cd300ld4 A T 11: 114,913,533 (GRCm39) V174E probably benign Het
Cep85l T C 10: 53,225,151 (GRCm39) D146G possibly damaging Het
Clip1 T C 5: 123,751,675 (GRCm39) probably benign Het
Col4a4 G A 1: 82,484,671 (GRCm39) P532L unknown Het
Col6a4 C T 9: 105,910,954 (GRCm39) probably null Het
Dync1h1 C T 12: 110,632,521 (GRCm39) Q4547* probably null Het
Ergic1 G A 17: 26,873,853 (GRCm39) probably benign Het
Foxn4 G A 5: 114,394,916 (GRCm39) T337M possibly damaging Het
Gemin5 A T 11: 58,047,566 (GRCm39) I336N probably damaging Het
Gm21905 A T 5: 68,103,705 (GRCm39) probably null Het
Grik2 C A 10: 49,411,532 (GRCm39) R202L probably damaging Het
Iglon5 T C 7: 43,126,351 (GRCm39) D184G probably benign Het
Il11ra1 A T 4: 41,765,421 (GRCm39) Q172L probably benign Het
Me2 G T 18: 73,914,218 (GRCm39) probably null Het
Med24 A G 11: 98,609,678 (GRCm39) V73A possibly damaging Het
Mmp24 A G 2: 155,634,544 (GRCm39) Q88R probably damaging Het
Mroh3 A T 1: 136,111,069 (GRCm39) V819E probably damaging Het
Mrps9 A G 1: 42,937,706 (GRCm39) K247R probably benign Het
Myo15b G A 11: 115,762,670 (GRCm39) R1254H Het
Ncoa5 A G 2: 164,844,001 (GRCm39) L134P probably benign Het
Or4d5 A T 9: 40,012,751 (GRCm39) F12I probably benign Het
Or51e2 C A 7: 102,391,651 (GRCm39) L186F probably damaging Het
Or52a24 T C 7: 103,382,024 (GRCm39) V297A probably null Het
Pdcd11 A G 19: 47,086,665 (GRCm39) I224V probably benign Het
Ptprh C A 7: 4,555,626 (GRCm39) probably null Het
Rab34 G T 11: 78,080,978 (GRCm39) V63F probably damaging Het
Rack1 T C 11: 48,692,592 (GRCm39) I71T probably benign Het
Rai14 G A 15: 10,589,401 (GRCm39) R266* probably null Het
Rsph9 A G 17: 46,440,382 (GRCm39) V238A probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sel1l3 A T 5: 53,329,916 (GRCm39) C480S probably benign Het
Sh3pxd2a C T 19: 47,256,562 (GRCm39) A747T probably benign Het
Slc1a3 T C 15: 8,679,052 (GRCm39) N181S probably damaging Het
Slit1 T A 19: 41,618,325 (GRCm39) K784* probably null Het
Sos2 T A 12: 69,632,009 (GRCm39) Q1297L probably benign Het
Srd5a2 T A 17: 74,334,114 (GRCm39) T102S probably benign Het
Ss18l2 A T 9: 121,541,674 (GRCm39) I64F probably damaging Het
Tas2r120 T C 6: 132,634,128 (GRCm39) F70S possibly damaging Het
Tjap1 G A 17: 46,574,700 (GRCm39) A5V possibly damaging Het
Tln2 A T 9: 67,269,929 (GRCm39) M488K possibly damaging Het
Tnks T G 8: 35,305,701 (GRCm39) I42L probably benign Het
Togaram2 A T 17: 72,016,563 (GRCm39) Q640L possibly damaging Het
Triobp C A 15: 78,878,260 (GRCm39) Q1682K probably damaging Het
Trip11 C T 12: 101,859,942 (GRCm39) E311K probably damaging Het
Ugt2b5 A G 5: 87,287,655 (GRCm39) Y171H probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Zfp990 G T 4: 145,263,205 (GRCm39) D68Y probably damaging Het
Zranb2 A T 3: 157,242,370 (GRCm39) probably null Het
Other mutations in Cog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Cog3 APN 14 75,968,044 (GRCm39) missense possibly damaging 0.79
IGL02637:Cog3 APN 14 75,959,636 (GRCm39) splice site probably benign
IGL02934:Cog3 APN 14 75,979,129 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0403:Cog3 UTSW 14 75,979,767 (GRCm39) splice site probably benign
R0972:Cog3 UTSW 14 75,954,610 (GRCm39) missense probably benign
R1735:Cog3 UTSW 14 75,966,761 (GRCm39) nonsense probably null
R1813:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R1896:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R2517:Cog3 UTSW 14 75,979,182 (GRCm39) missense probably benign 0.01
R2567:Cog3 UTSW 14 75,991,730 (GRCm39) missense probably benign
R2962:Cog3 UTSW 14 75,977,974 (GRCm39) critical splice donor site probably null
R3103:Cog3 UTSW 14 75,984,641 (GRCm39) critical splice acceptor site probably null
R3689:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3691:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3927:Cog3 UTSW 14 75,980,998 (GRCm39) splice site probably benign
R4581:Cog3 UTSW 14 75,970,391 (GRCm39) missense probably benign 0.04
R4932:Cog3 UTSW 14 75,970,394 (GRCm39) missense probably damaging 0.98
R5560:Cog3 UTSW 14 75,966,833 (GRCm39) missense probably damaging 1.00
R5654:Cog3 UTSW 14 75,962,239 (GRCm39) missense probably benign 0.03
R6253:Cog3 UTSW 14 75,957,152 (GRCm39) missense probably damaging 1.00
R6419:Cog3 UTSW 14 75,962,178 (GRCm39) nonsense probably null
R6791:Cog3 UTSW 14 75,968,118 (GRCm39) missense probably damaging 1.00
R6803:Cog3 UTSW 14 75,941,479 (GRCm39) missense probably benign 0.00
R7998:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R7999:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R8075:Cog3 UTSW 14 75,968,142 (GRCm39) missense probably damaging 1.00
R8294:Cog3 UTSW 14 75,954,619 (GRCm39) missense probably damaging 1.00
R8329:Cog3 UTSW 14 75,978,003 (GRCm39) missense probably damaging 0.99
R8434:Cog3 UTSW 14 75,979,836 (GRCm39) missense probably damaging 1.00
R9170:Cog3 UTSW 14 75,966,802 (GRCm39) missense probably damaging 1.00
X0017:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
X0021:Cog3 UTSW 14 75,981,033 (GRCm39) missense possibly damaging 0.87
X0066:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACCCACATCTGTTAACCC -3'
(R):5'- ATGCCCAATGTGGTTGTGAC -3'

Sequencing Primer
(F):5'- TCTGTTAACCCAAAACAAGCAAGG -3'
(R):5'- GTGAGCAGTCCGTGTTTA -3'
Posted On 2019-07-31