Incidental Mutation 'IGL01721:Cog8'
ID 105121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog8
Ensembl Gene ENSMUSG00000031916
Gene Name component of oligomeric golgi complex 8
Synonyms C87832
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01721
Quality Score
Status
Chromosome 8
Chromosomal Location 107775341-107783369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107780697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000093173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000095517] [ENSMUST00000170962]
AlphaFold Q9JJA2
Predicted Effect probably benign
Transcript: ENSMUST00000034391
AA Change: V187A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: V187A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034392
SMART Domains Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917

DomainStartEndE-ValueType
PUA 95 170 4.36e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095517
AA Change: V187A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: V187A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122903
Predicted Effect probably benign
Transcript: ENSMUST00000134772
Predicted Effect probably benign
Transcript: ENSMUST00000170962
SMART Domains Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917

DomainStartEndE-ValueType
PDB:1T5Y|A 1 133 7e-87 PDB
Blast:PUA 95 123 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212281
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(22) : Targeted, other(2) Gene trapped(20)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,023,453 (GRCm39) M51V possibly damaging Het
Acad8 A G 9: 26,903,563 (GRCm39) probably benign Het
Atp2a2 A G 5: 122,638,855 (GRCm39) V53A possibly damaging Het
Bicra T C 7: 15,722,624 (GRCm39) T298A probably benign Het
Ccdc185 C T 1: 182,576,543 (GRCm39) E49K possibly damaging Het
Cfhr2 A G 1: 139,741,352 (GRCm39) S208P probably benign Het
Chd1 T C 17: 15,990,430 (GRCm39) Y1661H probably damaging Het
Cntnap5a A G 1: 116,085,367 (GRCm39) H435R probably benign Het
Col24a1 A G 3: 145,244,322 (GRCm39) H1532R probably benign Het
Dpp6 A G 5: 27,836,518 (GRCm39) Y336C probably damaging Het
Drosha T A 15: 12,846,198 (GRCm39) Y444* probably null Het
Egf A T 3: 129,491,371 (GRCm39) C374* probably null Het
Eif2b3 C T 4: 116,916,001 (GRCm39) H203Y probably damaging Het
Erbb4 A G 1: 68,293,722 (GRCm39) V723A possibly damaging Het
Fbxo21 T C 5: 118,126,855 (GRCm39) I202T probably benign Het
Gbp6 T C 5: 105,422,073 (GRCm39) M544V probably benign Het
Gm10750 T C 2: 148,857,964 (GRCm39) T96A unknown Het
Gm8232 A T 14: 44,674,640 (GRCm39) probably null Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Gsdma3 T C 11: 98,528,782 (GRCm39) V412A possibly damaging Het
Hs6st1 A T 1: 36,108,016 (GRCm39) H93L probably damaging Het
Hsf2 G A 10: 57,372,277 (GRCm39) E77K probably benign Het
Ing3 T A 6: 21,968,879 (GRCm39) probably benign Het
Ints6 T C 14: 62,951,188 (GRCm39) I280M probably damaging Het
Kazn C A 4: 141,886,354 (GRCm39) probably null Het
Klhl20 T C 1: 160,923,157 (GRCm39) Y13C probably damaging Het
Krtap26-1 G A 16: 88,444,060 (GRCm39) P187L probably damaging Het
Mga T A 2: 119,765,720 (GRCm39) I1329K probably damaging Het
Mindy4 A G 6: 55,200,984 (GRCm39) D223G probably damaging Het
Ncor2 T C 5: 125,128,001 (GRCm39) E124G probably damaging Het
Nfat5 G A 8: 108,071,611 (GRCm39) probably null Het
Nkain1 A G 4: 130,532,134 (GRCm38) F184L probably benign Het
Or8k25 T C 2: 86,243,677 (GRCm39) T240A probably damaging Het
Rars1 A T 11: 35,719,491 (GRCm39) F110L probably damaging Het
Rfx6 A C 10: 51,599,173 (GRCm39) K509N probably damaging Het
Serpinb2 T C 1: 107,443,333 (GRCm39) L44P probably damaging Het
Sin3a G A 9: 57,002,609 (GRCm39) R167Q probably damaging Het
Sos2 T A 12: 69,650,641 (GRCm39) T809S probably damaging Het
Stard9 A G 2: 120,533,811 (GRCm39) E3356G probably damaging Het
Vmn1r52 A G 6: 90,155,905 (GRCm39) T70A probably benign Het
Other mutations in Cog8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Cog8 APN 8 107,783,010 (GRCm39) missense probably damaging 1.00
IGL02563:Cog8 APN 8 107,783,055 (GRCm39) missense possibly damaging 0.70
IGL02961:Cog8 APN 8 107,782,885 (GRCm39) unclassified probably benign
R0076:Cog8 UTSW 8 107,780,765 (GRCm39) missense possibly damaging 0.96
R0255:Cog8 UTSW 8 107,775,777 (GRCm39) unclassified probably benign
R0433:Cog8 UTSW 8 107,783,110 (GRCm39) missense possibly damaging 0.52
R0990:Cog8 UTSW 8 107,779,119 (GRCm39) splice site probably null
R1457:Cog8 UTSW 8 107,779,528 (GRCm39) missense probably damaging 1.00
R1567:Cog8 UTSW 8 107,780,740 (GRCm39) nonsense probably null
R2239:Cog8 UTSW 8 107,782,993 (GRCm39) missense probably damaging 1.00
R2380:Cog8 UTSW 8 107,782,993 (GRCm39) missense probably damaging 1.00
R2910:Cog8 UTSW 8 107,780,853 (GRCm39) missense probably benign 0.25
R3978:Cog8 UTSW 8 107,779,669 (GRCm39) missense probably damaging 1.00
R4560:Cog8 UTSW 8 107,778,843 (GRCm39) critical splice donor site probably null
R4863:Cog8 UTSW 8 107,776,806 (GRCm39) missense probably damaging 1.00
R4879:Cog8 UTSW 8 107,782,984 (GRCm39) missense probably damaging 0.99
R5026:Cog8 UTSW 8 107,775,757 (GRCm39) missense probably benign
R5721:Cog8 UTSW 8 107,776,780 (GRCm39) missense probably benign 0.00
R6489:Cog8 UTSW 8 107,776,933 (GRCm39) missense probably benign 0.00
R7146:Cog8 UTSW 8 107,779,005 (GRCm39) missense possibly damaging 0.47
R7157:Cog8 UTSW 8 107,779,131 (GRCm39) missense probably benign 0.04
R7229:Cog8 UTSW 8 107,782,984 (GRCm39) missense probably damaging 0.99
R7592:Cog8 UTSW 8 107,776,861 (GRCm39) missense possibly damaging 0.91
R8237:Cog8 UTSW 8 107,782,923 (GRCm39) missense probably benign 0.03
R8835:Cog8 UTSW 8 107,773,920 (GRCm39) unclassified probably benign
R8941:Cog8 UTSW 8 107,783,202 (GRCm39) missense probably damaging 1.00
R9075:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9076:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9077:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9255:Cog8 UTSW 8 107,779,383 (GRCm39) missense probably damaging 1.00
R9672:Cog8 UTSW 8 107,780,658 (GRCm39) missense probably damaging 1.00
T0722:Cog8 UTSW 8 107,775,625 (GRCm39) missense probably benign
Posted On 2014-01-21