Incidental Mutation 'IGL00789:Cog5'
ID 9798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog5
Ensembl Gene ENSMUSG00000035933
Gene Name component of oligomeric golgi complex 5
Synonyms GTC90, GOLTC1, 5430405C01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # IGL00789
Quality Score
Status
Chromosome 12
Chromosomal Location 31704868-31987629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31810951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 215 (L215Q)
Ref Sequence ENSEMBL: ENSMUSP00000044797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036862]
AlphaFold Q8C0L8
Predicted Effect possibly damaging
Transcript: ENSMUST00000036862
AA Change: L215Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: L215Q

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
Pfam:COG5 35 158 3.8e-37 PFAM
Pfam:Vps51 37 120 1.8e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
Allele List at MGI

All alleles(99) : Gene trapped(99)
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 A T 5: 144,222,356 (GRCm39) L133* probably null Het
Baiap2l1 A T 5: 144,222,879 (GRCm39) probably null Het
Cobll1 A T 2: 64,956,357 (GRCm39) D300E probably damaging Het
Cyp4f39 C A 17: 32,689,886 (GRCm39) H111N probably damaging Het
Dync1i2 G A 2: 71,078,299 (GRCm39) probably benign Het
Gfm2 A G 13: 97,309,566 (GRCm39) probably benign Het
Ms4a13 T G 19: 11,162,478 (GRCm39) S80R probably damaging Het
Nipbl C T 15: 8,326,353 (GRCm39) V2419M probably damaging Het
Nup98 A G 7: 101,803,178 (GRCm39) V657A probably benign Het
Rab32 T C 10: 10,426,556 (GRCm39) N130S probably benign Het
Ranbp17 G A 11: 33,193,249 (GRCm39) T935I probably benign Het
Other mutations in Cog5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cog5 APN 12 31,735,703 (GRCm39) missense probably damaging 1.00
IGL00495:Cog5 APN 12 31,887,308 (GRCm39) missense probably benign 0.06
IGL00763:Cog5 APN 12 31,715,531 (GRCm39) splice site probably benign
IGL01288:Cog5 APN 12 31,936,205 (GRCm39) missense probably benign 0.13
IGL01315:Cog5 APN 12 31,810,985 (GRCm39) splice site probably benign
IGL01396:Cog5 APN 12 31,944,095 (GRCm39) missense probably benign 0.01
IGL02468:Cog5 APN 12 31,887,357 (GRCm39) critical splice donor site probably null
IGL03030:Cog5 APN 12 31,840,921 (GRCm39) missense probably damaging 0.99
IGL03346:Cog5 APN 12 31,944,037 (GRCm39) missense possibly damaging 0.88
R0201:Cog5 UTSW 12 31,889,840 (GRCm39) missense probably damaging 0.99
R0356:Cog5 UTSW 12 31,887,180 (GRCm39) splice site probably benign
R0492:Cog5 UTSW 12 31,919,460 (GRCm39) missense probably damaging 1.00
R0646:Cog5 UTSW 12 31,887,358 (GRCm39) splice site probably benign
R0971:Cog5 UTSW 12 31,969,677 (GRCm39) missense probably benign 0.11
R1158:Cog5 UTSW 12 31,920,056 (GRCm39) splice site probably benign
R1997:Cog5 UTSW 12 31,710,848 (GRCm39) missense possibly damaging 0.66
R2167:Cog5 UTSW 12 31,887,288 (GRCm39) missense probably damaging 0.99
R4414:Cog5 UTSW 12 31,710,853 (GRCm39) nonsense probably null
R4755:Cog5 UTSW 12 31,919,405 (GRCm39) splice site probably null
R4836:Cog5 UTSW 12 31,969,732 (GRCm39) missense probably benign 0.07
R5017:Cog5 UTSW 12 31,970,604 (GRCm39) missense probably benign 0.29
R5256:Cog5 UTSW 12 31,936,204 (GRCm39) missense probably benign
R5986:Cog5 UTSW 12 31,710,716 (GRCm39) missense probably benign 0.03
R6131:Cog5 UTSW 12 31,936,220 (GRCm39) missense possibly damaging 0.47
R6885:Cog5 UTSW 12 31,944,198 (GRCm39) missense probably damaging 1.00
R7056:Cog5 UTSW 12 31,715,468 (GRCm39) missense possibly damaging 0.65
R7177:Cog5 UTSW 12 31,810,888 (GRCm39) missense probably damaging 1.00
R7182:Cog5 UTSW 12 31,735,707 (GRCm39) missense probably damaging 1.00
R7418:Cog5 UTSW 12 31,883,240 (GRCm39) missense probably damaging 1.00
R7445:Cog5 UTSW 12 31,969,671 (GRCm39) missense possibly damaging 0.64
R7585:Cog5 UTSW 12 31,810,888 (GRCm39) missense probably damaging 1.00
R8332:Cog5 UTSW 12 31,883,222 (GRCm39) nonsense probably null
R8722:Cog5 UTSW 12 31,969,703 (GRCm39) missense possibly damaging 0.82
R8781:Cog5 UTSW 12 31,883,249 (GRCm39) missense probably damaging 1.00
R8911:Cog5 UTSW 12 31,883,238 (GRCm39) missense probably damaging 1.00
R8979:Cog5 UTSW 12 31,840,894 (GRCm39) missense probably benign 0.00
R9153:Cog5 UTSW 12 31,710,810 (GRCm39) missense possibly damaging 0.87
X0062:Cog5 UTSW 12 31,735,691 (GRCm39) missense probably benign 0.01
Z1177:Cog5 UTSW 12 31,851,984 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06