Incidental Mutation 'R6575:Cog1'
ID 523411
Institutional Source Beutler Lab
Gene Symbol Cog1
Ensembl Gene ENSMUSG00000018661
Gene Name component of oligomeric golgi complex 1
Synonyms
MMRRC Submission 044699-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R6575 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 113539995-113557880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113546887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 494 (Q494K)
Ref Sequence ENSEMBL: ENSMUSP00000018805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018805] [ENSMUST00000063776] [ENSMUST00000152653] [ENSMUST00000148736]
AlphaFold Q9Z160
Predicted Effect probably benign
Transcript: ENSMUST00000018805
AA Change: Q494K

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: Q494K

DomainStartEndE-ValueType
Pfam:Vps51 12 93 1.5e-17 PFAM
low complexity region 95 110 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 518 530 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063776
SMART Domains Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661

DomainStartEndE-ValueType
Pfam:Vps51 12 93 4.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123085
Predicted Effect probably benign
Transcript: ENSMUST00000134418
Predicted Effect probably benign
Transcript: ENSMUST00000137878
Predicted Effect probably benign
Transcript: ENSMUST00000142069
Predicted Effect probably benign
Transcript: ENSMUST00000152653
Predicted Effect probably benign
Transcript: ENSMUST00000148736
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
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. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,330,683 (GRCm39) Y1177C probably damaging Het
Acnat1 A G 4: 49,450,785 (GRCm39) Y109H possibly damaging Het
Adgrf3 T A 5: 30,401,522 (GRCm39) K835N possibly damaging Het
Afg1l T C 10: 42,194,712 (GRCm39) D360G probably damaging Het
Ap3s1 C T 18: 46,887,448 (GRCm39) T27M probably benign Het
Atp8b4 A G 2: 126,256,284 (GRCm39) L225P probably damaging Het
Bicra G A 7: 15,713,056 (GRCm39) T997I probably benign Het
Bod1l T C 5: 41,995,411 (GRCm39) R112G probably damaging Het
Cabin1 T C 10: 75,561,535 (GRCm39) T989A possibly damaging Het
Cyb5rl T C 4: 106,942,550 (GRCm39) Y160H probably benign Het
Dnajb8 A G 6: 88,200,057 (GRCm39) N198D probably damaging Het
Eif1ad11 T C 12: 87,994,117 (GRCm39) I115T probably damaging Het
Eif3l C A 15: 78,970,778 (GRCm39) Q351K possibly damaging Het
Esr1 T C 10: 4,916,301 (GRCm39) probably benign Het
Fam3c G T 6: 22,329,607 (GRCm39) A40D probably damaging Het
Fcrla A G 1: 170,749,797 (GRCm39) S87P probably damaging Het
Glra1 A G 11: 55,411,822 (GRCm39) Y246H probably damaging Het
Gm45871 T A 18: 90,609,844 (GRCm39) C361S probably damaging Het
Greb1l A G 18: 10,547,347 (GRCm39) N1522D possibly damaging Het
Hcn4 T C 9: 58,731,435 (GRCm39) M214T unknown Het
Heatr5b A T 17: 79,070,418 (GRCm39) V1665E probably damaging Het
Hemgn C A 4: 46,395,990 (GRCm39) M415I possibly damaging Het
Hibadh G A 6: 52,524,013 (GRCm39) T295I probably damaging Het
Iars1 T C 13: 49,878,745 (GRCm39) L947P probably damaging Het
Icam2 G A 11: 106,269,585 (GRCm39) T178I probably damaging Het
Lbr A G 1: 181,663,763 (GRCm39) S86P probably damaging Het
Lipe G A 7: 25,082,749 (GRCm39) T801I probably benign Het
Lrp6 T C 6: 134,518,934 (GRCm39) T44A possibly damaging Het
Malrd1 A G 2: 15,847,439 (GRCm39) H1193R probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myh10 A G 11: 68,699,676 (GRCm39) I1671V probably benign Het
Or2c1 A G 16: 3,656,894 (GRCm39) D19G probably benign Het
Osbpl9 T C 4: 108,930,129 (GRCm39) D334G possibly damaging Het
Pdcd11 A G 19: 47,098,117 (GRCm39) D801G probably damaging Het
Pfdn4 C A 2: 170,358,556 (GRCm39) D16E probably benign Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Rrp9 C T 9: 106,360,778 (GRCm39) T253I probably damaging Het
Speer1m A T 5: 11,970,612 (GRCm39) K62* probably null Het
Tnrc6a A G 7: 122,769,133 (GRCm39) T308A probably damaging Het
Trgv4 T A 13: 19,369,250 (GRCm39) C34S probably benign Het
Trhr A G 15: 44,092,602 (GRCm39) M280V possibly damaging Het
Trp53bp1 G A 2: 121,059,084 (GRCm39) H926Y probably damaging Het
Trpv5 A T 6: 41,652,903 (GRCm39) I90K probably benign Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Vav1 A C 17: 57,612,280 (GRCm39) R513S probably damaging Het
Vmn2r100 A T 17: 19,741,671 (GRCm39) T128S probably benign Het
Zfp687 T C 3: 94,915,700 (GRCm39) Y1024C probably damaging Het
Zfp938 C A 10: 82,061,160 (GRCm39) G487* probably null Het
Znrf2 A G 6: 54,855,430 (GRCm39) Y73C probably damaging Het
Other mutations in Cog1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Cog1 APN 11 113,544,852 (GRCm39) missense probably benign 0.02
IGL02631:Cog1 APN 11 113,547,304 (GRCm39) nonsense probably null
IGL03258:Cog1 APN 11 113,545,919 (GRCm39) nonsense probably null
R0243:Cog1 UTSW 11 113,547,821 (GRCm39) unclassified probably benign
R0336:Cog1 UTSW 11 113,553,076 (GRCm39) missense probably benign 0.28
R1061:Cog1 UTSW 11 113,542,863 (GRCm39) missense probably benign
R1539:Cog1 UTSW 11 113,543,058 (GRCm39) missense possibly damaging 0.93
R1757:Cog1 UTSW 11 113,543,130 (GRCm39) missense possibly damaging 0.71
R1782:Cog1 UTSW 11 113,544,792 (GRCm39) missense probably benign
R1924:Cog1 UTSW 11 113,547,038 (GRCm39) missense probably benign
R2120:Cog1 UTSW 11 113,540,424 (GRCm39) missense probably damaging 0.98
R2121:Cog1 UTSW 11 113,540,424 (GRCm39) missense probably damaging 0.98
R2137:Cog1 UTSW 11 113,550,127 (GRCm39) missense probably damaging 1.00
R3809:Cog1 UTSW 11 113,545,836 (GRCm39) missense probably benign
R4042:Cog1 UTSW 11 113,551,836 (GRCm39) missense probably damaging 1.00
R4287:Cog1 UTSW 11 113,544,853 (GRCm39) missense probably damaging 0.99
R4679:Cog1 UTSW 11 113,543,116 (GRCm39) missense probably damaging 1.00
R4716:Cog1 UTSW 11 113,547,923 (GRCm39) missense probably damaging 1.00
R4774:Cog1 UTSW 11 113,548,253 (GRCm39) missense possibly damaging 0.84
R7026:Cog1 UTSW 11 113,540,415 (GRCm39) missense probably damaging 1.00
R7233:Cog1 UTSW 11 113,540,556 (GRCm39) missense probably damaging 1.00
R8013:Cog1 UTSW 11 113,546,990 (GRCm39) missense probably damaging 1.00
R8014:Cog1 UTSW 11 113,546,990 (GRCm39) missense probably damaging 1.00
R8027:Cog1 UTSW 11 113,543,215 (GRCm39) missense probably damaging 1.00
R8865:Cog1 UTSW 11 113,549,324 (GRCm39) missense probably benign 0.33
R9071:Cog1 UTSW 11 113,546,939 (GRCm39) missense probably damaging 0.99
R9110:Cog1 UTSW 11 113,544,807 (GRCm39) missense possibly damaging 0.80
R9255:Cog1 UTSW 11 113,547,019 (GRCm39) missense probably benign
Z1176:Cog1 UTSW 11 113,542,808 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACACTGACCAGAGAAGGCTTTG -3'
(R):5'- CTGCGTATCGATCAAAGGCAG -3'

Sequencing Primer
(F):5'- GAGAAGGCTTTGAATCCATCTCC -3'
(R):5'- TCGATCAAAGGCAGAGTTCTTAGGC -3'
Posted On 2018-06-22