Incidental Mutation 'R9110:Cog1'
ID 692211
Institutional Source Beutler Lab
Gene Symbol Cog1
Ensembl Gene ENSMUSG00000018661
Gene Name component of oligomeric golgi complex 1
Synonyms
MMRRC Submission 068919-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R9110 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 113539995-113557880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113544807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 330 (F330L)
Ref Sequence ENSEMBL: ENSMUSP00000018805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018805] [ENSMUST00000063776] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031] [ENSMUST00000148736] [ENSMUST00000152653]
AlphaFold Q9Z160
Predicted Effect possibly damaging
Transcript: ENSMUST00000018805
AA Change: F330L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: F330L

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 probably benign
Transcript: ENSMUST00000125890
SMART Domains Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654

DomainStartEndE-ValueType
Pfam:Zip 7 200 3.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134418
Predicted Effect probably benign
Transcript: ENSMUST00000136392
Predicted Effect probably benign
Transcript: ENSMUST00000142069
Predicted Effect probably benign
Transcript: ENSMUST00000146031
SMART Domains Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148736
Predicted Effect probably benign
Transcript: ENSMUST00000152653
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,831,615 (GRCm39) probably benign Het
Adam20 A G 8: 41,248,907 (GRCm39) D339G probably benign Het
Adam3 T A 8: 25,193,821 (GRCm39) Y397F probably benign Het
Ago3 C T 4: 126,248,829 (GRCm39) G574E probably damaging Het
Angptl4 T A 17: 33,999,800 (GRCm39) Y133F probably benign Het
Ankrd61 T C 5: 143,831,759 (GRCm39) D15G possibly damaging Het
Arfgap1 T A 2: 180,615,330 (GRCm39) S174T possibly damaging Het
Arhgap12 T C 18: 6,034,539 (GRCm39) D549G possibly damaging Het
Arhgap25 T C 6: 87,453,254 (GRCm39) E182G probably benign Het
Astn1 T G 1: 158,496,327 (GRCm39) I1127S probably benign Het
Bivm T C 1: 44,168,526 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,945,258 (GRCm39) S952T possibly damaging Het
Cfap44 T A 16: 44,255,923 (GRCm39) L1005Q probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Dnah2 T G 11: 69,435,208 (GRCm39) D54A probably benign Het
Dntt A T 19: 41,044,197 (GRCm39) probably null Het
Eml2 A G 7: 18,925,620 (GRCm39) S240G probably benign Het
Fam174b G A 7: 73,416,371 (GRCm39) probably benign Het
Fancd2 T C 6: 113,512,762 (GRCm39) S33P possibly damaging Het
Fars2 A T 13: 36,430,402 (GRCm39) M277L probably benign Het
Ifnar1 G A 16: 91,302,150 (GRCm39) G542S probably benign Het
Itih5 T C 2: 10,191,831 (GRCm39) V122A probably benign Het
Jph3 A G 8: 122,516,201 (GRCm39) I740V probably benign Het
Krtap16-1 C T 11: 99,877,386 (GRCm39) C6Y probably benign Het
Mettl25b G A 3: 87,834,978 (GRCm39) H57Y probably benign Het
Mpeg1 A T 19: 12,440,014 (GRCm39) T491S probably benign Het
Mroh8 T A 2: 157,055,605 (GRCm39) I998L possibly damaging Het
Nrxn1 G A 17: 90,869,233 (GRCm39) Q124* probably null Het
Nup188 T A 2: 30,222,461 (GRCm39) S1028T possibly damaging Het
Nxf1 A T 19: 8,745,118 (GRCm39) H456L probably damaging Het
Or2aj6 T A 16: 19,443,743 (GRCm39) I36F possibly damaging Het
Or2n1d C A 17: 38,646,434 (GRCm39) P129T probably damaging Het
Or5af2 T A 11: 58,707,959 (GRCm39) S42T possibly damaging Het
Or5w19 T A 2: 87,698,543 (GRCm39) D69E probably damaging Het
Or6c66 T A 10: 129,461,820 (GRCm39) I37F possibly damaging Het
Otx2 T C 14: 48,896,227 (GRCm39) N277S probably damaging Het
Pax4 T C 6: 28,445,201 (GRCm39) N158S probably benign Het
Pgm2 T G 5: 64,261,159 (GRCm39) S218A probably benign Het
Plb1 T C 5: 32,521,402 (GRCm39) S1418P probably benign Het
Prkd3 T A 17: 79,292,751 (GRCm39) D107V probably damaging Het
Prl2a1 A G 13: 27,992,398 (GRCm39) E174G probably benign Het
Prr7 C T 13: 55,620,574 (GRCm39) P194L probably damaging Het
Psmd2 T C 16: 20,470,994 (GRCm39) S46P probably damaging Het
Ptbp2 C T 3: 119,541,258 (GRCm39) A231T possibly damaging Het
Rae1 A G 2: 172,854,016 (GRCm39) T265A probably benign Het
Sct T C 7: 140,859,007 (GRCm39) E2G unknown Het
Sec14l3 T G 11: 4,015,007 (GRCm39) probably null Het
Sfxn3 T A 19: 45,038,727 (GRCm39) N131K probably damaging Het
Slc18a2 A T 19: 59,282,326 (GRCm39) D511V probably benign Het
Slc20a2 T C 8: 23,025,457 (GRCm39) I53T probably damaging Het
Smad4 T C 18: 73,782,941 (GRCm39) D331G probably damaging Het
Srms C T 2: 180,848,050 (GRCm39) R485H Het
Szt2 C A 4: 118,242,630 (GRCm39) A1486S possibly damaging Het
Tmem87b C T 2: 128,684,615 (GRCm39) Q459* probably null Het
Vdr A T 15: 97,782,753 (GRCm39) I23N probably damaging Het
Vmn1r204 T C 13: 22,740,564 (GRCm39) V65A possibly damaging Het
Vps33b A G 7: 79,939,743 (GRCm39) D498G probably benign Het
Zfp442 T A 2: 150,250,093 (GRCm39) Y603F probably benign Het
Zfp853 T A 5: 143,275,320 (GRCm39) Q115L unknown Het
Zmiz2 C A 11: 6,348,271 (GRCm39) Q303K probably benign 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
R6575:Cog1 UTSW 11 113,546,887 (GRCm39) missense probably benign 0.36
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
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'- GATTTGACCCACCTTCCCAAG -3'
(R):5'- ATGTGGCACATTACCCCATG -3'

Sequencing Primer
(F):5'- ATGGGGGTGGGTGACATATCTAG -3'
(R):5'- TGGCACATTACCCCATGACTGG -3'
Posted On 2021-12-30