Incidental Mutation 'T0722:Cog8'
ID 262123
Institutional Source Beutler Lab
Gene Symbol Cog8
Ensembl Gene ENSMUSG00000031916
Gene Name component of oligomeric golgi complex 8
Synonyms C87832
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # T0722 (G3) of strain 711
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107775341-107783369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107775625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 580 (L580I)
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: L580I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: L580I

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: L580I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: L580I

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,453,197 (GRCm39) T5A possibly damaging Het
Adam6b T A 12: 113,454,888 (GRCm39) D568E probably benign Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ago3 T G 4: 126,298,089 (GRCm39) T144P probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Atp6v1g3 T A 1: 138,201,591 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cdk5r1 G T 11: 80,368,707 (GRCm39) V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Cngb1 A G 8: 96,023,278 (GRCm39) M240T probably benign Het
Cngb1 G A 8: 96,030,342 (GRCm39) probably benign Het
Cngb1 T C 8: 96,030,324 (GRCm39) probably benign Het
Cngb1 G T 8: 96,024,447 (GRCm39) Q205K probably damaging Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,456,755 (GRCm39) F696S probably benign Het
Ddi2 G A 4: 141,440,784 (GRCm39) probably benign Het
Eml5 T C 12: 98,807,841 (GRCm39) D984G probably null Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Fstl3 A G 10: 79,615,997 (GRCm39) Y161C probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm8186 C T 17: 26,318,101 (GRCm39) R32Q probably benign Het
Jakmip1 C A 5: 37,276,247 (GRCm39) A519D probably damaging Het
Jcad G T 18: 4,675,531 (GRCm39) A1098S probably benign Het
Klhl14 T C 18: 21,691,192 (GRCm39) Y446C probably damaging Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Mmp13 G T 9: 7,280,857 (GRCm39) M413I possibly damaging Het
Mmp25 G A 17: 23,850,192 (GRCm39) A456V possibly damaging Het
Msi2 A T 11: 88,285,423 (GRCm39) M207K probably damaging Het
Myh8 G A 11: 67,195,262 (GRCm39) R1692Q probably benign Het
Nbas A G 12: 13,402,809 (GRCm39) I788V probably benign Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Opa1 T C 16: 29,429,748 (GRCm39) probably null Het
Or12k7 T G 2: 36,958,449 (GRCm39) L44R probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Or4c114 A G 2: 88,905,303 (GRCm39) V44A probably benign Het
Or5w17 T A 2: 87,583,467 (GRCm39) Y290F probably damaging Het
Pabpc1l G A 2: 163,884,340 (GRCm39) G359D possibly damaging Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,457 (GRCm39) noncoding transcript Het
Qser1 A G 2: 104,617,177 (GRCm39) C1122R possibly damaging Het
Rfx8 A G 1: 39,722,772 (GRCm39) S282P probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc30a6 T A 17: 74,719,319 (GRCm39) probably null Het
Smarcc1 G A 9: 110,035,153 (GRCm39) E859K possibly damaging Het
Snx1 CTT CTTGTT 9: 66,012,209 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Spta1 A G 1: 174,018,632 (GRCm39) probably benign Het
Sytl1 C A 4: 132,984,162 (GRCm39) probably benign Het
Sytl1 A G 4: 132,984,164 (GRCm39) probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Terf2 T C 8: 107,803,306 (GRCm39) K425E probably benign Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Uck2 A T 1: 167,062,280 (GRCm39) D149E probably benign Het
Wnt5a G A 14: 28,233,882 (GRCm39) A17T probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign 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
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
Predicted Primers
Posted On 2015-02-04