Incidental Mutation 'IGL01959:Cog8'
ID 182335
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 # IGL01959
Quality Score
Status
Chromosome 8
Chromosomal Location 107775341-107783369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107783010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 93 (Y93C)
Ref Sequence ENSEMBL: ENSMUSP00000093173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000095517] [ENSMUST00000170962]
AlphaFold Q9JJA2
Predicted Effect probably damaging
Transcript: ENSMUST00000034391
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: Y93C

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 damaging
Transcript: ENSMUST00000095517
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: Y93C

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 unknown
Transcript: ENSMUST00000134772
AA Change: Y40C
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 50,982,645 (GRCm39) noncoding transcript Het
Aip A G 19: 4,171,397 (GRCm39) I13T probably damaging Het
Cacna2d1 C T 5: 16,417,895 (GRCm39) P140S probably benign Het
Cald1 A G 6: 34,730,403 (GRCm39) D40G probably damaging Het
Cep250 T A 2: 155,825,279 (GRCm39) V1052E possibly damaging Het
Chd1 A G 17: 15,962,435 (GRCm39) N731D probably damaging Het
Chml C T 1: 175,515,166 (GRCm39) V252I probably benign Het
Creld1 G A 6: 113,469,794 (GRCm39) A399T probably damaging Het
Cyp2a4 T A 7: 26,007,133 (GRCm39) V80E probably damaging Het
Cyp2c37 T A 19: 39,984,277 (GRCm39) L255* probably null Het
Cyp2d12 C A 15: 82,439,545 (GRCm39) probably benign Het
Dimt1 A G 13: 107,089,963 (GRCm39) I229V probably benign Het
Dsc1 G A 18: 20,230,282 (GRCm39) T341I probably damaging Het
Ercc3 T A 18: 32,390,411 (GRCm39) F567I probably damaging Het
Espl1 C A 15: 102,214,097 (GRCm39) probably benign Het
Fcrl2 T C 3: 87,166,939 (GRCm39) D18G probably damaging Het
Fnip1 T A 11: 54,381,738 (GRCm39) S296R possibly damaging Het
Fzd5 C A 1: 64,775,105 (GRCm39) A219S possibly damaging Het
Gbp7 A G 3: 142,247,108 (GRCm39) probably benign Het
Gm3298 T C 14: 5,018,731 (GRCm38) L162S probably damaging Het
Hspa1l A G 17: 35,196,111 (GRCm39) E50G probably damaging Het
Ipo9 T C 1: 135,348,093 (GRCm39) probably null Het
Kazn A G 4: 141,878,195 (GRCm39) L185P probably damaging Het
Kcnh8 T C 17: 53,141,635 (GRCm39) S293P probably damaging Het
Lrp1b T C 2: 41,202,539 (GRCm39) T1191A probably damaging Het
Mnat1 A G 12: 73,228,705 (GRCm39) probably benign Het
Msx2 C T 13: 53,622,638 (GRCm39) probably benign Het
Ndufs2 T G 1: 171,064,798 (GRCm39) I317L probably benign Het
Nms T C 1: 38,981,006 (GRCm39) probably benign Het
Oosp3 T A 19: 11,678,286 (GRCm39) F87L probably benign Het
Pask A G 1: 93,262,329 (GRCm39) V177A probably benign Het
Poldip2 G T 11: 78,403,133 (GRCm39) probably benign Het
Prr14l A T 5: 32,987,549 (GRCm39) S649T possibly damaging Het
Slc6a18 T A 13: 73,825,984 (GRCm39) N22I probably damaging Het
Smco2 T A 6: 146,763,208 (GRCm39) S228T probably benign Het
Speer4a1 G A 5: 26,240,902 (GRCm39) Q197* probably null Het
Speg A G 1: 75,367,734 (GRCm39) K641R probably damaging Het
Strip2 G A 6: 29,928,553 (GRCm39) V286M probably damaging Het
Tnfrsf22 C T 7: 143,197,012 (GRCm39) probably null Het
Tnpo3 A G 6: 29,589,019 (GRCm39) probably benign Het
Top2b T A 14: 16,422,695 (GRCm38) N1377K probably benign Het
Trmt1 T A 8: 85,418,005 (GRCm39) probably null Het
Trpm1 A G 7: 63,858,723 (GRCm39) M266V possibly damaging Het
Vmn1r199 A G 13: 22,567,290 (GRCm39) T195A probably benign Het
Vmn2r10 A G 5: 109,145,571 (GRCm39) V512A probably benign Het
Zfp777 A G 6: 48,021,275 (GRCm39) F116L probably benign Het
Zp3r T A 1: 130,519,188 (GRCm39) K253* probably null Het
Other mutations in Cog8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Cog8 APN 8 107,780,697 (GRCm39) missense probably benign 0.23
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 2014-05-07