Incidental Mutation 'R2962:Cog3'
ID 255935
Institutional Source Beutler Lab
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2962 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75939790-75991998 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 75977974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893

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 noncoding transcript
Transcript: ENSMUST00000226686
Predicted Effect probably null
Transcript: ENSMUST00000227473
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd24a A G 10: 43,455,313 (GRCm39) T22A probably benign Het
Cdk5rap2 ATGTG ATG 4: 70,208,214 (GRCm39) probably null Het
Gm3371 A T 14: 44,646,155 (GRCm39) N103K probably benign Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hoxc10 A G 15: 102,875,735 (GRCm39) Y148C probably damaging Het
Jade1 C G 3: 41,567,762 (GRCm39) T610S probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl7 T C 5: 113,385,922 (GRCm39) V123A possibly damaging Het
Malt1 A G 18: 65,581,406 (GRCm39) H278R probably benign Het
Mlxip C A 5: 123,578,887 (GRCm39) R178S probably damaging Het
Or13a25 A T 7: 140,247,862 (GRCm39) M214L probably benign Het
Pdxk A G 10: 78,279,667 (GRCm39) L236P probably damaging Het
Plekhg3 G A 12: 76,619,433 (GRCm39) probably null Het
Rufy2 G T 10: 62,836,039 (GRCm39) V323F probably damaging Het
Serpinb7 A G 1: 107,379,456 (GRCm39) T288A probably benign Het
Tet1 A T 10: 62,650,323 (GRCm39) C1628* probably null Het
Tgtp2 A G 11: 48,950,363 (GRCm39) S70P probably damaging Het
Trank1 C T 9: 111,181,148 (GRCm39) T390I probably damaging Het
Trim31 T C 17: 37,210,796 (GRCm39) S143P probably damaging Het
Ube3c C A 5: 29,863,416 (GRCm39) A897D possibly damaging Het
Unc79 A T 12: 103,061,378 (GRCm39) T1050S possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H 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
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
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'- TCCCAAGGGTAAGAGAGTACTC -3'
(R):5'- GGCCACAGTTGAGGATATTTCAG -3'

Sequencing Primer
(F):5'- CATGACATAGCTGCTATGGGACC -3'
(R):5'- GGATATTTCAGAGATTGTTCAAGGC -3'
Posted On 2014-12-29