Incidental Mutation 'R5026:Cog8'
ID 391357
Institutional Source Beutler Lab
Gene Symbol Cog8
Ensembl Gene ENSMUSG00000031916
Gene Name component of oligomeric golgi complex 8
Synonyms C87832
MMRRC Submission 042617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5026 (G1)
Quality Score 184
Status Validated
Chromosome 8
Chromosomal Location 107775341-107783369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107775757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 536 (S536P)
Ref Sequence ENSEMBL: ENSMUSP00000093173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034388] [ENSMUST00000034391] [ENSMUST00000055316] [ENSMUST00000095517]
AlphaFold Q9JJA2
Predicted Effect probably benign
Transcript: ENSMUST00000034388
SMART Domains Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913

DomainStartEndE-ValueType
MIT 2 80 2.02e-27 SMART
low complexity region 90 102 N/A INTRINSIC
AAA 159 295 2.89e-22 SMART
Blast:AAA 329 358 8e-9 BLAST
Pfam:Vps4_C 374 434 1.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034391
AA Change: S536P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: S536P

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055316
SMART Domains Protein: ENSMUSP00000138676
Gene: ENSMUSG00000078931

DomainStartEndE-ValueType
Pfam:Pep_deformylase 52 222 2.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095517
AA Change: S536P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: S536P

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: ENSMUST00000154271
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.7%
Validation Efficiency 96% (88/92)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,356,383 (GRCm39) N608S probably benign Het
Actg1 T C 11: 120,237,784 (GRCm39) N7S probably damaging Het
Adamtsl3 T A 7: 82,225,262 (GRCm39) L357Q probably benign Het
Ahnak A T 19: 8,987,995 (GRCm39) Q3093L possibly damaging Het
Ankrd16 T A 2: 11,794,692 (GRCm39) V359E probably benign Het
Ankrd40 T C 11: 94,230,550 (GRCm39) probably benign Het
Ano10 G A 9: 122,101,625 (GRCm39) Q49* probably null Het
Aoah A T 13: 21,099,129 (GRCm39) D236V probably damaging Het
Bin1 T C 18: 32,552,983 (GRCm39) probably null Het
Braf T C 6: 39,665,221 (GRCm39) D49G probably benign Het
Brsk1 A T 7: 4,707,265 (GRCm39) R273W probably damaging Het
C2cd3 T A 7: 100,109,049 (GRCm39) M2259K possibly damaging Het
Cabp1 T C 5: 115,313,531 (GRCm39) N43D possibly damaging Het
Ccar2 T A 14: 70,379,951 (GRCm39) Q412L possibly damaging Het
Cd4 T C 6: 124,843,583 (GRCm39) T443A possibly damaging Het
Cdh23 T A 10: 60,140,627 (GRCm39) I3206F possibly damaging Het
Ceacam9 A T 7: 16,459,122 (GRCm39) probably null Het
Chid1 T C 7: 141,093,749 (GRCm39) D289G probably damaging Het
Chmp6 T A 11: 119,809,469 (GRCm39) L196Q probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah7a T G 1: 53,701,657 (GRCm39) Y166S probably damaging Het
Dnah7b G T 1: 46,226,523 (GRCm39) W1318L probably damaging Het
Ecd A G 14: 20,387,098 (GRCm39) F212S probably damaging Het
Entpd6 A T 2: 150,605,564 (GRCm39) S265C probably damaging Het
Epb41l2 A G 10: 25,360,206 (GRCm39) T523A possibly damaging Het
Focad T C 4: 88,262,819 (GRCm39) S939P unknown Het
Gjb3 A T 4: 127,220,280 (GRCm39) V84D probably damaging Het
Gm572 A T 4: 148,739,301 (GRCm39) E43V possibly damaging Het
Gm6185 T A 1: 161,052,178 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,201,522 (GRCm39) C787S probably damaging Het
Grpel2 A G 18: 61,849,024 (GRCm39) L162P probably damaging Het
Herc1 A G 9: 66,393,408 (GRCm39) T4096A probably benign Het
Hook3 A T 8: 26,600,785 (GRCm39) M41K probably damaging Het
Ifit1bl1 T C 19: 34,571,293 (GRCm39) Y388C probably damaging Het
Ighv3-4 A G 12: 114,217,382 (GRCm39) Y70H probably benign Het
Itm2c T C 1: 85,834,213 (GRCm39) L176P probably damaging Het
Lmtk3 G A 7: 45,443,836 (GRCm39) probably benign Het
Macf1 G A 4: 123,333,287 (GRCm39) T2376I possibly damaging Het
Map1a T G 2: 121,138,019 (GRCm39) S2660A possibly damaging Het
Mmrn2 A G 14: 34,121,158 (GRCm39) H676R probably benign Het
Nbeal1 A T 1: 60,276,338 (GRCm39) K693M probably damaging Het
Ndufa13 T A 8: 70,347,920 (GRCm39) R49* probably null Het
Neb T A 2: 52,094,892 (GRCm39) T1115S possibly damaging Het
Nvl C T 1: 180,932,720 (GRCm39) R699H probably damaging Het
Or10w1 A G 19: 13,632,296 (GRCm39) I163V probably benign Het
Or5d47 A T 2: 87,804,364 (GRCm39) I215N probably damaging Het
Or8b53 A G 9: 38,667,041 (GRCm39) D19G probably benign Het
Or8d2b A T 9: 38,789,195 (GRCm39) H241L possibly damaging Het
Piezo1 G T 8: 123,213,557 (GRCm39) D1779E probably benign Het
Prl8a9 A G 13: 27,745,560 (GRCm39) S77P probably damaging Het
Prune2 A T 19: 17,176,506 (GRCm39) I2904F probably damaging Het
Retreg1 T A 15: 25,970,214 (GRCm39) S151T probably damaging Het
Rnf213 A G 11: 119,327,590 (GRCm39) D1859G probably damaging Het
Rnf39 T C 17: 37,256,426 (GRCm39) F173L probably benign Het
Rspry1 T A 8: 95,376,931 (GRCm39) N371K probably damaging Het
Samd9l T A 6: 3,375,284 (GRCm39) D659V possibly damaging Het
Sez6 T A 11: 77,859,815 (GRCm39) F378Y probably damaging Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Slit2 A T 5: 48,414,147 (GRCm39) N917I probably damaging Het
Smg1 T A 7: 117,792,768 (GRCm39) probably benign Het
Tes T C 6: 17,096,339 (GRCm39) V24A probably benign Het
Tial1 C T 7: 128,050,120 (GRCm39) E82K probably damaging Het
Tmem94 G A 11: 115,683,930 (GRCm39) C750Y probably damaging Het
Tmppe T A 9: 114,234,887 (GRCm39) N395K possibly damaging Het
Tnn T C 1: 159,973,707 (GRCm39) H220R probably benign Het
Trappc10 T C 10: 78,040,122 (GRCm39) T610A possibly damaging Het
Trmt1l T A 1: 151,316,627 (GRCm39) M196K probably damaging Het
Trpv4 T C 5: 114,760,715 (GRCm39) *872W probably null Het
Ttn T C 2: 76,579,353 (GRCm39) T23847A probably benign Het
Ube4b T A 4: 149,445,022 (GRCm39) L440F probably damaging Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Unc13c T A 9: 73,838,185 (GRCm39) T889S possibly damaging Het
Vmn1r215 C T 13: 23,260,449 (GRCm39) T163I probably benign Het
Vmn2r16 T A 5: 109,508,722 (GRCm39) Y483* probably null Het
Wdr47 T A 3: 108,525,838 (GRCm39) C120* probably null Het
Zc3h6 G A 2: 128,859,229 (GRCm39) V1087I probably benign Het
Zfp423 T C 8: 88,507,302 (GRCm39) H889R probably damaging Het
Zfp825 G T 13: 74,629,196 (GRCm39) H107N probably benign Het
Zfp945 T C 17: 23,069,859 (GRCm39) H680R 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
R1567:Cog8 UTSW 8 107,780,740 (GRCm39) nonsense probably null
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
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'- TGTTACAGGCTCCATGCTCC -3'
(R):5'- TATTACAGAGATGCCCTTAGCCTG -3'

Sequencing Primer
(F):5'- CATGCTCCGCTGCTCCG -3'
(R):5'- GGTCTATAGAGTTCCAGCATAGCC -3'
Posted On 2016-06-06