Incidental Mutation 'R1061:Cog1'
ID 94510
Institutional Source Beutler Lab
Gene Symbol Cog1
Ensembl Gene ENSMUSG00000018661
Gene Name component of oligomeric golgi complex 1
Synonyms
MMRRC Submission 039147-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.880) question?
Stock # R1061 (G1)
Quality Score 98
Status Not validated
Chromosome 11
Chromosomal Location 113649169-113667054 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113652037 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 170 (S170A)
Ref Sequence ENSEMBL: ENSMUSP00000018805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018805] [ENSMUST00000063776] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031]
AlphaFold Q9Z160
Predicted Effect probably benign
Transcript: ENSMUST00000018805
AA Change: S170A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: S170A

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 noncoding transcript
Transcript: ENSMUST00000123085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123153
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: ENSMUST00000136392
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
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
Abcb11 C T 2: 69,277,809 A715T probably benign Het
Ampd2 A G 3: 108,075,689 Y641H probably damaging Het
Aqp4 A T 18: 15,398,191 V171E probably damaging Het
Arid4a T A 12: 71,074,955 S381R probably damaging Het
Armc8 T G 9: 99,537,731 N51H probably damaging Het
Asic5 T A 3: 82,021,001 Y424N probably damaging Het
Bcl11a A T 11: 24,164,069 K471* probably null Het
Birc6 A G 17: 74,689,312 T4494A probably damaging Het
Btbd9 A G 17: 30,527,435 I139T probably benign Het
Ccdc114 T C 7: 45,941,755 I218T probably damaging Het
Ccdc60 C A 5: 116,172,468 R178S possibly damaging Het
Cd163 C T 6: 124,309,169 A226V probably benign Het
Cwc15 T C 9: 14,507,915 L169P probably damaging Het
Cyp3a25 A T 5: 145,986,833 D333E probably benign Het
Ddc C T 11: 11,829,132 V331I probably benign Het
Dlc1 T A 8: 36,858,051 T367S probably benign Het
Dnah17 T C 11: 118,052,688 D3183G possibly damaging Het
Eif2a T A 3: 58,545,065 Y165* probably null Het
Eml6 T C 11: 29,777,267 D1285G probably damaging Het
Fam92b C A 8: 120,169,704 probably null Het
Fasn T C 11: 120,822,182 probably null Het
Fbn1 T C 2: 125,345,963 T1549A probably benign Het
Fezf2 T C 14: 12,342,713 Y384C probably damaging Het
Flvcr1 A T 1: 191,008,173 V550E probably benign Het
Gcm2 A G 13: 41,105,871 W41R probably damaging Het
Gli2 A T 1: 118,854,517 M160K possibly damaging Het
Gpr61 C T 3: 108,150,307 R346H probably damaging Het
Hoxa5 A T 6: 52,204,155 S66T probably benign Het
Hsph1 A T 5: 149,618,418 V781D possibly damaging Het
Kdm3b G A 18: 34,796,862 V220M probably damaging Het
Klhl25 T A 7: 75,866,520 Y391* probably null Het
Mc2r A T 18: 68,407,809 Y138N probably damaging Het
Mtap C A 4: 89,156,584 D106E probably benign Het
Nup43 G T 10: 7,667,671 W37L probably damaging Het
Nxpe2 T A 9: 48,326,363 E197D probably damaging Het
Olfr1098 A T 2: 86,922,782 V250D possibly damaging Het
Olfr484 T C 7: 108,124,456 Y269C probably damaging Het
Olfr544 T A 7: 102,484,114 *335C probably null Het
Olfr934 C A 9: 38,982,483 C187F probably damaging Het
Pitrm1 A G 13: 6,555,575 H186R probably damaging Het
Pklr C T 3: 89,144,881 R467C probably damaging Het
Plxna2 A G 1: 194,644,093 N112D probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Ppp3cb A C 14: 20,508,614 probably null Het
R3hcc1l C T 19: 42,583,426 R135* probably null Het
Ralyl A C 3: 14,115,701 D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
S100a1 T C 3: 90,511,312 N65S probably damaging Het
Scn11a A T 9: 119,795,663 M531K probably damaging Het
Slc5a5 T A 8: 70,890,221 M232L probably benign Het
Tet3 A T 6: 83,373,323 N1054K probably damaging Het
Tg A G 15: 66,698,559 N1427D probably benign Het
Tns1 A C 1: 73,917,672 V530G probably damaging Het
Trcg1 C A 9: 57,245,873 Q600K possibly damaging Het
Tshz3 A G 7: 36,768,706 E40G probably damaging Het
Usp34 T C 11: 23,384,420 F1138S possibly damaging Het
Vmn2r26 C T 6: 124,061,644 T726I probably benign Het
Vmn2r97 A T 17: 18,928,178 R112* probably null Het
Vwa2 G T 19: 56,908,994 R577L probably benign Het
Vwa3b A C 1: 37,157,430 Q46P probably damaging Het
Wdr25 T A 12: 108,992,799 probably null Het
Wrap53 A G 11: 69,562,400 L405P probably damaging Het
Zfp629 C A 7: 127,611,989 W216L probably damaging Het
Other mutations in Cog1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Cog1 APN 11 113654026 missense probably benign 0.02
IGL02631:Cog1 APN 11 113656478 nonsense probably null
IGL03258:Cog1 APN 11 113655093 nonsense probably null
R0243:Cog1 UTSW 11 113656995 unclassified probably benign
R0336:Cog1 UTSW 11 113662250 missense probably benign 0.28
R1539:Cog1 UTSW 11 113652232 missense possibly damaging 0.93
R1757:Cog1 UTSW 11 113652304 missense possibly damaging 0.71
R1782:Cog1 UTSW 11 113653966 missense probably benign
R1924:Cog1 UTSW 11 113656212 missense probably benign
R2120:Cog1 UTSW 11 113649598 missense probably damaging 0.98
R2121:Cog1 UTSW 11 113649598 missense probably damaging 0.98
R2137:Cog1 UTSW 11 113659301 missense probably damaging 1.00
R3809:Cog1 UTSW 11 113655010 missense probably benign
R4042:Cog1 UTSW 11 113661010 missense probably damaging 1.00
R4287:Cog1 UTSW 11 113654027 missense probably damaging 0.99
R4679:Cog1 UTSW 11 113652290 missense probably damaging 1.00
R4716:Cog1 UTSW 11 113657097 missense probably damaging 1.00
R4774:Cog1 UTSW 11 113657427 missense possibly damaging 0.84
R6575:Cog1 UTSW 11 113656061 missense probably benign 0.36
R7026:Cog1 UTSW 11 113649589 missense probably damaging 1.00
R7233:Cog1 UTSW 11 113649730 missense probably damaging 1.00
R8013:Cog1 UTSW 11 113656164 missense probably damaging 1.00
R8014:Cog1 UTSW 11 113656164 missense probably damaging 1.00
R8027:Cog1 UTSW 11 113652389 missense probably damaging 1.00
R8865:Cog1 UTSW 11 113658498 missense probably benign 0.33
R9071:Cog1 UTSW 11 113656113 missense probably damaging 0.99
R9110:Cog1 UTSW 11 113653981 missense possibly damaging 0.80
R9255:Cog1 UTSW 11 113656193 missense probably benign
Z1176:Cog1 UTSW 11 113651982 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TACAGCATGGCCGCCCAGATTAAG -3'
(R):5'- AGCCTGGCATTTGAGCAGCATC -3'

Sequencing Primer
(F):5'- ATTAAGCTGCTGCTGGAGATCC -3'
(R):5'- GCTTTCGTGCAAAATAGTTGACC -3'
Posted On 2014-01-05