Incidental Mutation 'R0336:Cog1'
ID 34135
Institutional Source Beutler Lab
Gene Symbol Cog1
Ensembl Gene ENSMUSG00000018661
Gene Name component of oligomeric golgi complex 1
Synonyms
MMRRC Submission 038545-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R0336 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 113539995-113557880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 113553076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 365 (H365P)
Ref Sequence ENSEMBL: ENSMUSP00000068394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018805] [ENSMUST00000063776] [ENSMUST00000120194] [ENSMUST00000148736] [ENSMUST00000152653]
AlphaFold Q9Z160
Predicted Effect probably benign
Transcript: ENSMUST00000018805
AA Change: H949P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: H949P

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
AA Change: H365P

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661
AA Change: H365P

DomainStartEndE-ValueType
Pfam:Vps51 12 93 4.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134418
Predicted Effect probably benign
Transcript: ENSMUST00000137878
Predicted Effect probably benign
Transcript: ENSMUST00000142069
Predicted Effect probably benign
Transcript: ENSMUST00000148736
Predicted Effect probably benign
Transcript: ENSMUST00000152653
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,481 (GRCm39) I2743V probably benign Het
Adamts16 A G 13: 70,939,913 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,458,998 (GRCm39) I427V probably benign Het
Arhgef1 T A 7: 24,621,382 (GRCm39) F510I possibly damaging Het
B3glct A G 5: 149,670,057 (GRCm39) D342G probably damaging Het
Bcl2a1c G T 9: 114,159,353 (GRCm39) V44F probably damaging Het
Brca1 A G 11: 101,414,819 (GRCm39) V1105A probably benign Het
Ccn5 C A 2: 163,674,242 (GRCm39) A214D probably damaging Het
Cep135 A G 5: 76,749,349 (GRCm39) H272R probably benign Het
Coa8 T C 12: 111,700,092 (GRCm39) probably benign Het
Col12a1 A T 9: 79,609,627 (GRCm39) L293Q probably damaging Het
Col18a1 A G 10: 76,894,570 (GRCm39) L1493P probably damaging Het
Ctsh A G 9: 89,957,791 (GRCm39) Y290C probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb39 G T 8: 19,102,985 (GRCm39) H37N possibly damaging Het
Epha3 A G 16: 63,387,011 (GRCm39) I875T probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fndc1 C T 17: 7,983,939 (GRCm39) R1329Q unknown Het
Fyn C A 10: 39,402,897 (GRCm39) T223K possibly damaging Het
Galnt6 A T 15: 100,597,087 (GRCm39) S360T probably damaging Het
Grsf1 C A 5: 88,811,012 (GRCm39) V336F probably damaging Het
Hip1 A T 5: 135,457,467 (GRCm39) Y720N probably benign Het
Hivep3 G A 4: 119,961,044 (GRCm39) E1700K probably damaging Het
Ifna6 T C 4: 88,746,178 (GRCm39) S176P probably damaging Het
Lilrb4b T A 10: 51,357,389 (GRCm39) L75Q probably benign Het
Lrig3 C T 10: 125,802,574 (GRCm39) T77I probably benign Het
Mpped1 C T 15: 83,720,483 (GRCm39) P135L probably damaging Het
Mss51 T A 14: 20,533,254 (GRCm39) I406F possibly damaging Het
Mybpc2 T C 7: 44,155,040 (GRCm39) N956D probably damaging Het
Or4a27 T C 2: 88,559,498 (GRCm39) I148M possibly damaging Het
Podxl2 G A 6: 88,826,577 (GRCm39) T243I probably benign Het
Polr2a C T 11: 69,627,719 (GRCm39) R1396Q possibly damaging Het
Pramel51 T C 12: 88,144,961 (GRCm39) I122V probably benign Het
Pygm C T 19: 6,438,788 (GRCm39) R205W probably damaging Het
Rfx3 A G 19: 27,783,662 (GRCm39) M428T probably benign Het
Ric1 A T 19: 29,565,193 (GRCm39) T647S probably damaging Het
Rictor G A 15: 6,806,234 (GRCm39) probably null Het
Rnf38 A T 4: 44,152,350 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,935,892 (GRCm39) I41K probably damaging Het
St8sia4 T A 1: 95,581,283 (GRCm39) D153V probably benign Het
Stk33 T C 7: 108,930,681 (GRCm39) N226S probably benign Het
Strn3 A G 12: 51,708,391 (GRCm39) probably null Het
Tlr6 G T 5: 65,111,289 (GRCm39) N539K probably benign Het
Tmem129 G T 5: 33,812,946 (GRCm39) P134Q probably damaging Het
Tmem94 A G 11: 115,678,211 (GRCm39) I145V probably benign Het
Trap1 A C 16: 3,862,490 (GRCm39) V596G probably damaging Het
Tspan2 A G 3: 102,642,343 (GRCm39) I11V probably null Het
Ttc23 A T 7: 67,312,231 (GRCm39) H46L probably benign Het
Txnip T A 3: 96,467,295 (GRCm39) D292E probably benign Het
Vmn1r121 T A 7: 20,832,387 (GRCm39) I18F possibly damaging Het
Vmn1r61 G A 7: 5,614,066 (GRCm39) H83Y probably benign Het
Vmn1r82 T C 7: 12,039,248 (GRCm39) S174P probably benign Het
Vmn2r79 A C 7: 86,651,287 (GRCm39) T229P probably benign Het
Vps13b T G 15: 35,455,279 (GRCm39) Y729* probably null Het
Xdh C T 17: 74,229,458 (GRCm39) V332M possibly damaging Het
Xkr5 C A 8: 18,990,652 (GRCm39) R205L possibly damaging Het
Zc3h4 T C 7: 16,169,103 (GRCm39) S1071P unknown Het
Zc3h6 A G 2: 128,857,332 (GRCm39) H617R possibly damaging Het
Zfp597 A G 16: 3,684,243 (GRCm39) V171A probably benign Het
Zfp709 T C 8: 72,644,449 (GRCm39) F626S probably damaging Het
Zfp944 C A 17: 22,558,009 (GRCm39) D413Y probably damaging Het
Zfp979 A C 4: 147,697,592 (GRCm39) S372R possibly 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
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
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'- TGGAAGGCACTGCATGTTCATTCTC -3'
(R):5'- GGCCCACATTCTGTCATGGAACTG -3'

Sequencing Primer
(F):5'- TGTCGCTGTATCACACAGTAAC -3'
(R):5'- CACATTCTGTCATGGAACTGGAAAG -3'
Posted On 2013-05-09