Incidental Mutation 'R1567:Cog8'
ID 175350
Institutional Source Beutler Lab
Gene Symbol Cog8
Ensembl Gene ENSMUSG00000031916
Gene Name component of oligomeric golgi complex 8
Synonyms C87832
MMRRC Submission 039606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R1567 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107775341-107783369 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 107780740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 173 (R173*)
Ref Sequence ENSEMBL: ENSMUSP00000093173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000095517] [ENSMUST00000170962]
AlphaFold Q9JJA2
Predicted Effect probably null
Transcript: ENSMUST00000034391
AA Change: R173*
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: R173*

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034392
SMART Domains Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917

DomainStartEndE-ValueType
PUA 95 170 4.36e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095517
AA Change: R173*
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: R173*

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122903
Predicted Effect probably benign
Transcript: ENSMUST00000134772
Predicted Effect probably benign
Transcript: ENSMUST00000170962
SMART Domains Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917

DomainStartEndE-ValueType
PDB:1T5Y|A 1 133 7e-87 PDB
Blast:PUA 95 123 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212281
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(22) : Targeted, other(2) Gene trapped(20)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,030,352 (GRCm39) V155I probably benign Het
Actrt2 T C 4: 154,751,371 (GRCm39) Q255R possibly damaging Het
Adar A T 3: 89,643,088 (GRCm39) H323L probably benign Het
Adgrg5 T A 8: 95,664,326 (GRCm39) V312E probably damaging Het
Anapc1 T C 2: 128,459,636 (GRCm39) T1808A probably damaging Het
Aox3 C A 1: 58,233,852 (GRCm39) A1285E probably damaging Het
Arhgap40 T A 2: 158,388,719 (GRCm39) L551Q probably damaging Het
Blk A G 14: 63,618,178 (GRCm39) S243P probably damaging Het
Cfap206 G T 4: 34,716,490 (GRCm39) A325E probably benign Het
Cimap1b C A 15: 89,261,981 (GRCm39) R137L probably benign Het
Cnn3 A T 3: 121,243,607 (GRCm39) K23* probably null Het
Col11a1 G A 3: 113,932,261 (GRCm39) R880H unknown Het
Cyp2c40 T C 19: 39,792,215 (GRCm39) Q243R probably null Het
Dcbld1 A G 10: 52,195,752 (GRCm39) E391G probably damaging Het
Dchs1 C A 7: 105,421,068 (GRCm39) A451S probably benign Het
Ddx43 A G 9: 78,323,991 (GRCm39) K441E probably damaging Het
Depdc1a A T 3: 159,228,177 (GRCm39) I310F possibly damaging Het
Dnah17 C T 11: 118,016,811 (GRCm39) V247M probably damaging Het
Dtd1 G T 2: 144,588,945 (GRCm39) G201V probably damaging Het
Eif1ad3 A T 12: 87,843,754 (GRCm39) I134F unknown Het
Enoph1 G A 5: 100,208,884 (GRCm39) G80S probably benign Het
Fam76a A T 4: 132,645,039 (GRCm39) Y48* probably null Het
Fut9 T G 4: 25,620,344 (GRCm39) T157P probably damaging Het
Gm57859 T A 11: 113,578,728 (GRCm39) V41D probably damaging Het
Gtpbp1 T C 15: 79,596,391 (GRCm39) I310T probably damaging Het
Hk3 T A 13: 55,154,418 (GRCm39) I753F probably damaging Het
Hnrnpl G T 7: 28,519,608 (GRCm39) A419S possibly damaging Het
Ighv5-6 T C 12: 113,589,528 (GRCm39) probably benign Het
Itpkb A G 1: 180,249,423 (GRCm39) T933A probably benign Het
Kcnn2 T G 18: 45,803,401 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lmcd1 C T 6: 112,287,526 (GRCm39) R71C probably damaging Het
Mrgprb1 A T 7: 48,097,201 (GRCm39) V237E probably damaging Het
Mybl1 T A 1: 9,755,976 (GRCm39) E191V probably damaging Het
Nbas T A 12: 13,335,279 (GRCm39) F158I possibly damaging Het
Nbr1 C G 11: 101,466,037 (GRCm39) L748V probably damaging Het
Nlrp10 G A 7: 108,526,257 (GRCm39) T27M probably benign Het
Notch3 G A 17: 32,377,554 (GRCm39) T174I possibly damaging Het
Nup85 T A 11: 115,459,224 (GRCm39) I109K possibly damaging Het
Or10h28 A G 17: 33,488,450 (GRCm39) I251V probably benign Het
Or2b28 A T 13: 21,531,595 (GRCm39) I166L probably benign Het
Or2n1e A G 17: 38,586,459 (GRCm39) I266V possibly damaging Het
Or4c12b T C 2: 89,647,528 (GRCm39) L280P probably damaging Het
Or4k48 G T 2: 111,476,271 (GRCm39) Q24K possibly damaging Het
Or5b105 T C 19: 13,080,006 (GRCm39) T221A probably benign Het
Phf2 T C 13: 48,985,589 (GRCm39) K64E unknown Het
Polr2a T C 11: 69,636,857 (GRCm39) T365A probably benign Het
Prkcd A G 14: 30,329,405 (GRCm39) C12R probably benign Het
Ptprq T C 10: 107,401,748 (GRCm39) I1915V probably benign Het
Rcbtb2 G A 14: 73,399,902 (GRCm39) V112I probably benign Het
Rxfp3 A G 15: 11,036,187 (GRCm39) V395A probably benign Het
Ryr2 C A 13: 11,774,563 (GRCm39) G1198C possibly damaging Het
Scn1a T A 2: 66,103,675 (GRCm39) I1851F probably damaging Het
Selenop A G 15: 3,309,180 (GRCm39) *377W probably null Het
Sema4a A T 3: 88,359,353 (GRCm39) C113S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Speg T C 1: 75,404,691 (GRCm39) S2575P probably benign Het
Stk24 T A 14: 121,545,468 (GRCm39) I97L probably benign Het
Tap2 A G 17: 34,433,065 (GRCm39) K449R probably benign Het
Tecpr2 T A 12: 110,908,030 (GRCm39) probably null Het
Ttn T A 2: 76,727,955 (GRCm39) probably benign Het
Uggt2 A G 14: 119,246,505 (GRCm39) F1204L possibly damaging Het
Ugt2b36 T C 5: 87,240,258 (GRCm39) I42M probably damaging Het
Zdhhc8 A G 16: 18,044,984 (GRCm39) L274P probably benign Het
Zfp974 C A 7: 27,610,148 (GRCm39) D526Y probably damaging Het
Other mutations in Cog8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Cog8 APN 8 107,780,697 (GRCm39) missense probably benign 0.23
IGL01959:Cog8 APN 8 107,783,010 (GRCm39) missense probably damaging 1.00
IGL02563:Cog8 APN 8 107,783,055 (GRCm39) missense possibly damaging 0.70
IGL02961:Cog8 APN 8 107,782,885 (GRCm39) unclassified probably benign
R0076:Cog8 UTSW 8 107,780,765 (GRCm39) missense possibly damaging 0.96
R0255:Cog8 UTSW 8 107,775,777 (GRCm39) unclassified probably benign
R0433:Cog8 UTSW 8 107,783,110 (GRCm39) missense possibly damaging 0.52
R0990:Cog8 UTSW 8 107,779,119 (GRCm39) splice site probably null
R1457:Cog8 UTSW 8 107,779,528 (GRCm39) missense probably damaging 1.00
R2239:Cog8 UTSW 8 107,782,993 (GRCm39) missense probably damaging 1.00
R2380:Cog8 UTSW 8 107,782,993 (GRCm39) missense probably damaging 1.00
R2910:Cog8 UTSW 8 107,780,853 (GRCm39) missense probably benign 0.25
R3978:Cog8 UTSW 8 107,779,669 (GRCm39) missense probably damaging 1.00
R4560:Cog8 UTSW 8 107,778,843 (GRCm39) critical splice donor site probably null
R4863:Cog8 UTSW 8 107,776,806 (GRCm39) missense probably damaging 1.00
R4879:Cog8 UTSW 8 107,782,984 (GRCm39) missense probably damaging 0.99
R5026:Cog8 UTSW 8 107,775,757 (GRCm39) missense probably benign
R5721:Cog8 UTSW 8 107,776,780 (GRCm39) missense probably benign 0.00
R6489:Cog8 UTSW 8 107,776,933 (GRCm39) missense probably benign 0.00
R7146:Cog8 UTSW 8 107,779,005 (GRCm39) missense possibly damaging 0.47
R7157:Cog8 UTSW 8 107,779,131 (GRCm39) missense probably benign 0.04
R7229:Cog8 UTSW 8 107,782,984 (GRCm39) missense probably damaging 0.99
R7592:Cog8 UTSW 8 107,776,861 (GRCm39) missense possibly damaging 0.91
R8237:Cog8 UTSW 8 107,782,923 (GRCm39) missense probably benign 0.03
R8835:Cog8 UTSW 8 107,773,920 (GRCm39) unclassified probably benign
R8941:Cog8 UTSW 8 107,783,202 (GRCm39) missense probably damaging 1.00
R9075:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9076:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9077:Cog8 UTSW 8 107,779,208 (GRCm39) missense probably damaging 1.00
R9255:Cog8 UTSW 8 107,779,383 (GRCm39) missense probably damaging 1.00
R9672:Cog8 UTSW 8 107,780,658 (GRCm39) missense probably damaging 1.00
T0722:Cog8 UTSW 8 107,775,625 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTAAGTCAGTATCTGGCACATGAGG -3'
(R):5'- ACCATCTAGCCCGTGTCTAGTAAGTG -3'

Sequencing Primer
(F):5'- agtatctggcacatgaggaatag -3'
(R):5'- AGTGCTTGGTAACAAACTGCTG -3'
Posted On 2014-04-24