Incidental Mutation 'R3691:Cog3'
ID 353155
Institutional Source Beutler Lab
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
MMRRC Submission 040686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3691 (G1)
Quality Score 40.1
Status Validated
Chromosome 14
Chromosomal Location 75939790-75991998 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 75991878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000154131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000049168
AA Change: M1V
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: M1V

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 probably null
Transcript: ENSMUST00000227473
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.8117 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Best2 A G 8: 85,737,883 (GRCm39) F171L probably benign Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cfap43 G A 19: 47,885,512 (GRCm39) L368F probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Drosha G A 15: 12,834,724 (GRCm39) R276H unknown Het
Efr3b T A 12: 4,032,059 (GRCm39) D183V possibly damaging Het
Epha1 T C 6: 42,338,064 (GRCm39) T794A probably damaging Het
Fbxo17 G A 7: 28,436,887 (GRCm39) V281I probably damaging Het
Flii T C 11: 60,610,583 (GRCm39) Y571C probably benign Het
Flywch1 G A 17: 23,982,186 (GRCm39) P6L probably damaging Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fras1 C T 5: 96,929,371 (GRCm39) T3925I probably benign Het
Gk5 T C 9: 96,011,149 (GRCm39) probably null Het
Gm12588 T G 11: 121,796,751 (GRCm39) Q366P possibly damaging Het
Gm3248 A G 14: 5,943,068 (GRCm38) I161T probably damaging Het
Gzmg T A 14: 56,395,134 (GRCm39) probably benign Het
Lrrc69 A T 4: 14,795,980 (GRCm39) N22K possibly damaging Het
Med13l A G 5: 118,859,562 (GRCm39) R250G probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mxi1 T C 19: 53,358,062 (GRCm39) L73P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or10ag2 T C 2: 87,248,514 (GRCm39) F39L probably benign Het
Oxct1 A G 15: 4,076,999 (GRCm39) M111V probably benign Het
Pcnx4 A G 12: 72,620,493 (GRCm39) D771G probably damaging Het
Serpina6 T C 12: 103,620,668 (GRCm39) D27G probably benign Het
Tecpr1 A G 5: 144,146,797 (GRCm39) F523S probably benign Het
Zan A G 5: 137,418,281 (GRCm39) I2939T unknown Het
Zfc3h1 A G 10: 115,256,595 (GRCm39) T1522A probably benign 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
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
R7015:Cog3 UTSW 14 75,950,716 (GRCm39) missense possibly damaging 0.81
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'- CCAGGATGCAGTTAACACAGACTAG -3'
(R):5'- AAAGCCACGTCTGTTTTGGC -3'

Sequencing Primer
(F):5'- TACTCTGACACGGGGACAC -3'
(R):5'- CACGTCTGTTTTGGCCTCGG -3'
Posted On 2015-10-13