Incidental Mutation 'R6544:Cog7'
ID 521019
Institutional Source Beutler Lab
Gene Symbol Cog7
Ensembl Gene ENSMUSG00000034951
Gene Name component of oligomeric golgi complex 7
Synonyms 5630400E24Rik
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 121522059-121580940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121534966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 573 (R573Q)
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: R573Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: R573Q

DomainStartEndE-ValueType
Pfam:COG7 2 767 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148634
Predicted Effect probably damaging
Transcript: ENSMUST00000205438
AA Change: R573Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging 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
IGL02398:Cog7 APN 7 121,563,432 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAAGTAACTCTTCTGCCTTCAATGG -3'
(R):5'- TAGCCTTTTCCCAGGTCAGG -3'

Sequencing Primer
(F):5'- CTCCTGCATCTCATGGCAGG -3'
(R):5'- CCTTTTCCCAGGTCAGGTTTGG -3'
Posted On 2018-06-06