Incidental Mutation 'IGL01396:Cog5'
ID 79433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog5
Ensembl Gene ENSMUSG00000035933
Gene Name component of oligomeric golgi complex 5
Synonyms 5430405C01Rik, GOLTC1, GTC90
Accession Numbers

Ensembl: ENSMUST00000036862; MGI: 2145130
Is this an essential gene? Probably essential (E-score: 0.835) question?
Stock # IGL01396
Quality Score
Status
Chromosome 12
Chromosomal Location 31654869-31937630 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31894096 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 660 (D660G)
Ref Sequence ENSEMBL: ENSMUSP00000044797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036862]
AlphaFold Q8C0L8
Predicted Effect probably benign
Transcript: ENSMUST00000036862
AA Change: D660G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: D660G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219672
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 87,972,790 Y469N probably benign Het
Actl11 T C 9: 107,928,765 S96P possibly damaging Het
Ankrd13b T A 11: 77,472,372 probably null Het
Apobec4 T A 1: 152,756,266 I15K probably damaging Het
Arhgef28 G T 13: 97,953,893 D1039E probably damaging Het
Atp1a1 C T 3: 101,591,453 G175R probably damaging Het
AU040320 T A 4: 126,869,378 probably benign Het
Bcl9l G A 9: 44,506,824 R653H probably damaging Het
Ccdc141 T A 2: 77,128,325 I144L possibly damaging Het
Cdh20 C T 1: 104,947,429 T312I possibly damaging Het
Cdh23 C T 10: 60,385,069 V1297I possibly damaging Het
Cfap57 T C 4: 118,610,595 Y315C probably damaging Het
Chd8 A G 14: 52,204,587 probably benign Het
Cps1 T C 1: 67,157,786 I332T probably damaging Het
Csgalnact2 T C 6: 118,126,327 T225A probably damaging Het
Dchs1 A G 7: 105,772,283 L310P probably damaging Het
Dgki T C 6: 37,000,090 N695S probably damaging Het
Gas7 T A 11: 67,652,914 probably null Het
Gm21286 T C 4: 60,838,324 noncoding transcript Het
Gm4799 C T 10: 82,954,684 noncoding transcript Het
Hdac4 T C 1: 91,959,474 probably benign Het
Hif1a T A 12: 73,940,533 S467T probably benign Het
Ier5 A G 1: 155,098,550 V294A probably damaging Het
Ifna11 T C 4: 88,820,077 V40A probably benign Het
Itga9 T C 9: 118,607,123 probably benign Het
Lbx1 G T 19: 45,234,231 Q118K probably benign Het
Lta A T 17: 35,204,085 probably null Het
Matr3 A G 18: 35,588,389 Y471C probably damaging Het
Nrg2 A T 18: 36,045,852 probably benign Het
Olfr1156 G T 2: 87,949,863 F123L probably damaging Het
Olfr1195 C T 2: 88,683,231 C167Y probably damaging Het
Olfr1301 T A 2: 111,754,603 M118K probably damaging Het
Olfr1301 T C 2: 111,754,503 F85L probably benign Het
Patl1 A G 19: 11,923,883 K299R probably damaging Het
Pdgfrb A G 18: 61,072,664 E574G probably damaging Het
Phf3 G A 1: 30,804,305 Q1858* probably null Het
Prkca T C 11: 108,014,322 K197E possibly damaging Het
Psmc6 C A 14: 45,343,667 Q307K probably benign Het
Rasa1 T C 13: 85,258,442 I181V probably benign Het
Scel A G 14: 103,608,094 probably benign Het
Scn5a A T 9: 119,534,704 S457T probably damaging Het
Sesn3 A G 9: 14,321,078 T216A probably benign Het
Slc25a21 A G 12: 57,159,189 V19A probably benign Het
Slc34a1 A G 13: 55,402,733 T81A probably damaging Het
Slc35a5 A G 16: 45,151,503 Y117H probably damaging Het
Sptbn4 A G 7: 27,414,771 V569A probably benign Het
Sqle A G 15: 59,323,874 Y333C probably damaging Het
Svep1 T C 4: 58,068,552 E3078G possibly damaging Het
Tacc2 T A 7: 130,759,189 I2737N probably damaging Het
Tet3 A T 6: 83,369,638 Y1272* probably null Het
Tnr G T 1: 159,897,024 R1095L possibly damaging Het
Vmn1r184 T C 7: 26,267,437 S203P probably damaging Het
Vmn2r94 A G 17: 18,257,039 L370P probably damaging Het
Xrcc5 A G 1: 72,354,245 H559R probably benign Het
Other mutations in Cog5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cog5 APN 12 31685704 missense probably damaging 1.00
IGL00495:Cog5 APN 12 31837309 missense probably benign 0.06
IGL00763:Cog5 APN 12 31665532 splice site probably benign
IGL00789:Cog5 APN 12 31760952 missense possibly damaging 0.95
IGL01288:Cog5 APN 12 31886206 missense probably benign 0.13
IGL01315:Cog5 APN 12 31760986 splice site probably benign
IGL02468:Cog5 APN 12 31837358 critical splice donor site probably null
IGL03030:Cog5 APN 12 31790922 missense probably damaging 0.99
IGL03346:Cog5 APN 12 31894038 missense possibly damaging 0.88
R0201:Cog5 UTSW 12 31839841 missense probably damaging 0.99
R0356:Cog5 UTSW 12 31837181 splice site probably benign
R0492:Cog5 UTSW 12 31869461 missense probably damaging 1.00
R0646:Cog5 UTSW 12 31837359 splice site probably benign
R0971:Cog5 UTSW 12 31919678 missense probably benign 0.11
R1158:Cog5 UTSW 12 31870057 splice site probably benign
R1997:Cog5 UTSW 12 31660849 missense possibly damaging 0.66
R2167:Cog5 UTSW 12 31837289 missense probably damaging 0.99
R4414:Cog5 UTSW 12 31660854 nonsense probably null
R4755:Cog5 UTSW 12 31869406 splice site probably null
R4836:Cog5 UTSW 12 31919733 missense probably benign 0.07
R5017:Cog5 UTSW 12 31920605 missense probably benign 0.29
R5256:Cog5 UTSW 12 31886205 missense probably benign
R5986:Cog5 UTSW 12 31660717 missense probably benign 0.03
R6131:Cog5 UTSW 12 31886221 missense possibly damaging 0.47
R6885:Cog5 UTSW 12 31894199 missense probably damaging 1.00
R7056:Cog5 UTSW 12 31665469 missense possibly damaging 0.65
R7177:Cog5 UTSW 12 31760889 missense probably damaging 1.00
R7182:Cog5 UTSW 12 31685708 missense probably damaging 1.00
R7418:Cog5 UTSW 12 31833241 missense probably damaging 1.00
R7445:Cog5 UTSW 12 31919672 missense possibly damaging 0.64
R7585:Cog5 UTSW 12 31760889 missense probably damaging 1.00
R8332:Cog5 UTSW 12 31833223 nonsense probably null
R8722:Cog5 UTSW 12 31919704 missense possibly damaging 0.82
R8781:Cog5 UTSW 12 31833250 missense probably damaging 1.00
R8911:Cog5 UTSW 12 31833239 missense probably damaging 1.00
R8979:Cog5 UTSW 12 31790895 missense probably benign 0.00
R9153:Cog5 UTSW 12 31660811 missense possibly damaging 0.87
X0062:Cog5 UTSW 12 31685692 missense probably benign 0.01
Z1177:Cog5 UTSW 12 31801985 missense probably damaging 1.00
Posted On 2013-11-05