Incidental Mutation 'IGL02398:Cog7'
ID 291772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cog7
Ensembl Gene ENSMUSG00000034951
Gene Name component of oligomeric golgi complex 7
Synonyms 5630400E24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02398
Quality Score
Status
Chromosome 7
Chromosomal Location 121522059-121580940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121563432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 227 (C227R)
Ref Sequence ENSEMBL: ENSMUSP00000146193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057576] [ENSMUST00000205438]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057576
AA Change: C227R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: C227R

DomainStartEndE-ValueType
Pfam:COG7 2 767 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148634
Predicted Effect probably damaging
Transcript: ENSMUST00000205438
AA Change: C227R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,709,824 (GRCm39) C160* probably null Het
Alkbh8 C T 9: 3,345,870 (GRCm39) P197S possibly damaging Het
Ankef1 A C 2: 136,397,702 (GRCm39) N761T probably damaging Het
Ankrd7 A G 6: 18,866,696 (GRCm39) Y72C probably damaging Het
Cfap36 T G 11: 29,172,833 (GRCm39) M231L probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspg4 A T 9: 56,793,970 (GRCm39) E568D probably benign Het
Cwc27 G A 13: 104,940,762 (GRCm39) T199I possibly damaging Het
Cyp26a1 A G 19: 37,688,467 (GRCm39) I330V probably benign Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dhrs7 G A 12: 72,711,466 (GRCm39) R24C probably damaging Het
Ehmt2 T A 17: 35,127,455 (GRCm39) C838S probably damaging Het
Fn1 A T 1: 71,657,829 (GRCm39) probably null Het
Gjb3 T A 4: 127,219,855 (GRCm39) S226C probably benign Het
Gm14496 A G 2: 181,637,963 (GRCm39) I346V probably benign Het
Gm8050 T C 14: 17,930,894 (GRCm39) E172G probably damaging Het
Higd1a G A 9: 121,681,590 (GRCm39) R22W probably damaging Het
Hmcn1 A G 1: 150,678,648 (GRCm39) L491S possibly damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irgm2 A T 11: 58,110,755 (GRCm39) I161F probably damaging Het
Lrp8 G T 4: 107,704,691 (GRCm39) V304F probably damaging Het
Lrp8 C A 4: 107,726,245 (GRCm39) S850R probably damaging Het
Lrrc9 A T 12: 72,513,677 (GRCm39) M513L probably benign Het
Myo18b A T 5: 112,978,178 (GRCm39) V1248E possibly damaging Het
Myo1b A T 1: 51,797,050 (GRCm39) N945K probably damaging Het
Nipbl A G 15: 8,356,574 (GRCm39) L1604P probably damaging Het
Oas1f A T 5: 120,989,568 (GRCm39) Y169F probably benign Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or2a56 A T 6: 42,933,046 (GRCm39) I205F probably benign Het
Or52r1c G A 7: 102,735,313 (GRCm39) C191Y probably damaging Het
Or8k22 A T 2: 86,162,868 (GRCm39) Y277* probably null Het
Parp8 A G 13: 117,047,399 (GRCm39) probably null Het
Pde4dip T C 3: 97,674,097 (GRCm39) Y273C probably benign Het
Pgbd5 C T 8: 125,111,257 (GRCm39) A54T probably damaging Het
Pglyrp4 G A 3: 90,646,424 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,302 (GRCm39) S1819R probably benign Het
Polr1a T C 6: 71,913,540 (GRCm39) probably benign Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prlhr G T 19: 60,455,753 (GRCm39) A271E probably damaging Het
Rad23b C T 4: 55,350,360 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,905,114 (GRCm39) S132R probably damaging Het
Ros1 T A 10: 52,020,980 (GRCm39) probably benign Het
Ryr3 T C 2: 112,677,767 (GRCm39) D1327G probably benign Het
Slit1 A C 19: 41,590,676 (GRCm39) V1332G probably damaging Het
Spin2h A G X: 32,162,153 (GRCm39) D224G probably damaging Het
Tmem178b A G 6: 40,184,461 (GRCm39) M120V probably damaging Het
Trim25 T C 11: 88,890,630 (GRCm39) C106R probably damaging Het
Trim35 A G 14: 66,546,697 (GRCm39) Y488C probably damaging Het
Tsc2 A T 17: 24,840,703 (GRCm39) H326Q probably damaging Het
Yap1 A T 9: 7,950,536 (GRCm39) I315K probably benign Het
Zfp654 A G 16: 64,606,381 (GRCm39) V607A probably benign Het
Other mutations in Cog7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Cog7 APN 7 121,543,000 (GRCm39) critical splice donor site probably null
IGL02094:Cog7 APN 7 121,562,470 (GRCm39) missense probably benign 0.21
IGL02113:Cog7 APN 7 121,524,703 (GRCm39) missense probably damaging 1.00
IGL02151:Cog7 APN 7 121,543,031 (GRCm39) missense probably damaging 0.97
IGL02365:Cog7 APN 7 121,576,959 (GRCm39) missense possibly damaging 0.56
IGL02732:Cog7 APN 7 121,522,590 (GRCm39) missense probably benign 0.05
IGL02887:Cog7 APN 7 121,543,067 (GRCm39) missense possibly damaging 0.83
R0143:Cog7 UTSW 7 121,550,387 (GRCm39) missense probably damaging 1.00
R0446:Cog7 UTSW 7 121,536,295 (GRCm39) missense probably benign
R0521:Cog7 UTSW 7 121,540,392 (GRCm39) critical splice donor site probably null
R0526:Cog7 UTSW 7 121,562,494 (GRCm39) splice site probably null
R0658:Cog7 UTSW 7 121,555,363 (GRCm39) splice site probably benign
R0782:Cog7 UTSW 7 121,543,020 (GRCm39) missense possibly damaging 0.86
R1029:Cog7 UTSW 7 121,529,752 (GRCm39) critical splice donor site probably null
R1419:Cog7 UTSW 7 121,555,215 (GRCm39) missense probably damaging 0.99
R1521:Cog7 UTSW 7 121,529,797 (GRCm39) missense possibly damaging 0.57
R1639:Cog7 UTSW 7 121,580,642 (GRCm39) missense probably damaging 1.00
R2023:Cog7 UTSW 7 121,536,193 (GRCm39) missense probably damaging 0.99
R3896:Cog7 UTSW 7 121,540,392 (GRCm39) critical splice donor site probably benign
R4240:Cog7 UTSW 7 121,524,707 (GRCm39) missense possibly damaging 0.50
R4731:Cog7 UTSW 7 121,563,467 (GRCm39) missense probably benign 0.00
R4732:Cog7 UTSW 7 121,563,467 (GRCm39) missense probably benign 0.00
R4733:Cog7 UTSW 7 121,563,467 (GRCm39) missense probably benign 0.00
R4838:Cog7 UTSW 7 121,570,604 (GRCm39) missense probably damaging 1.00
R5001:Cog7 UTSW 7 121,549,109 (GRCm39) missense probably damaging 1.00
R5237:Cog7 UTSW 7 121,550,444 (GRCm39) missense probably damaging 1.00
R5353:Cog7 UTSW 7 121,540,470 (GRCm39) splice site probably null
R5609:Cog7 UTSW 7 121,524,683 (GRCm39) missense probably benign 0.12
R5964:Cog7 UTSW 7 121,555,252 (GRCm39) missense probably damaging 0.99
R6544:Cog7 UTSW 7 121,534,966 (GRCm39) missense probably damaging 0.99
R6784:Cog7 UTSW 7 121,563,516 (GRCm39) splice site probably null
R7110:Cog7 UTSW 7 121,534,999 (GRCm39) missense probably damaging 0.98
R7212:Cog7 UTSW 7 121,576,537 (GRCm39) missense probably damaging 0.98
R7304:Cog7 UTSW 7 121,536,362 (GRCm39) missense probably benign 0.04
R8185:Cog7 UTSW 7 121,576,969 (GRCm39) missense probably damaging 1.00
R8207:Cog7 UTSW 7 121,576,515 (GRCm39) missense possibly damaging 0.70
R8838:Cog7 UTSW 7 121,549,106 (GRCm39) missense probably damaging 0.98
R9116:Cog7 UTSW 7 121,570,561 (GRCm39) missense probably damaging 0.99
R9582:Cog7 UTSW 7 121,536,200 (GRCm39) missense probably benign 0.00
R9752:Cog7 UTSW 7 121,580,639 (GRCm39) critical splice donor site probably null
X0066:Cog7 UTSW 7 121,576,847 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16