Incidental Mutation 'R1735:Cog3'
ID 199673
Institutional Source Beutler Lab
Gene Symbol Cog3
Ensembl Gene ENSMUSG00000034893
Gene Name component of oligomeric golgi complex 3
Synonyms
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75939790-75991998 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75966761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 470 (K470*)
Ref Sequence ENSEMBL: ENSMUSP00000154131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000049168
AA Change: K480*
SMART Domains Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: K480*

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Sec34 130 277 9.5e-57 PFAM
Blast:HisKA 745 810 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226686
Predicted Effect probably null
Transcript: ENSMUST00000227473
AA Change: K470*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228081
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null Het
Other mutations in Cog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Cog3 APN 14 75,968,044 (GRCm39) missense possibly damaging 0.79
IGL02637:Cog3 APN 14 75,959,636 (GRCm39) splice site probably benign
IGL02934:Cog3 APN 14 75,979,129 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0105:Cog3 UTSW 14 75,959,580 (GRCm39) missense probably damaging 0.99
R0403:Cog3 UTSW 14 75,979,767 (GRCm39) splice site probably benign
R0972:Cog3 UTSW 14 75,954,610 (GRCm39) missense probably benign
R1813:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R1896:Cog3 UTSW 14 75,979,784 (GRCm39) missense probably benign 0.03
R2517:Cog3 UTSW 14 75,979,182 (GRCm39) missense probably benign 0.01
R2567:Cog3 UTSW 14 75,991,730 (GRCm39) missense probably benign
R2962:Cog3 UTSW 14 75,977,974 (GRCm39) critical splice donor site probably null
R3103:Cog3 UTSW 14 75,984,641 (GRCm39) critical splice acceptor site probably null
R3689:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3691:Cog3 UTSW 14 75,991,878 (GRCm39) start codon destroyed probably null
R3927:Cog3 UTSW 14 75,980,998 (GRCm39) splice site probably benign
R4581:Cog3 UTSW 14 75,970,391 (GRCm39) missense probably benign 0.04
R4932:Cog3 UTSW 14 75,970,394 (GRCm39) missense probably damaging 0.98
R5560:Cog3 UTSW 14 75,966,833 (GRCm39) missense probably damaging 1.00
R5654:Cog3 UTSW 14 75,962,239 (GRCm39) missense probably benign 0.03
R6253:Cog3 UTSW 14 75,957,152 (GRCm39) missense probably damaging 1.00
R6419:Cog3 UTSW 14 75,962,178 (GRCm39) nonsense probably null
R6791:Cog3 UTSW 14 75,968,118 (GRCm39) missense probably damaging 1.00
R6803:Cog3 UTSW 14 75,941,479 (GRCm39) missense probably benign 0.00
R7015:Cog3 UTSW 14 75,950,716 (GRCm39) missense possibly damaging 0.81
R7998:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R7999:Cog3 UTSW 14 75,984,533 (GRCm39) missense possibly damaging 0.94
R8075:Cog3 UTSW 14 75,968,142 (GRCm39) missense probably damaging 1.00
R8294:Cog3 UTSW 14 75,954,619 (GRCm39) missense probably damaging 1.00
R8329:Cog3 UTSW 14 75,978,003 (GRCm39) missense probably damaging 0.99
R8434:Cog3 UTSW 14 75,979,836 (GRCm39) missense probably damaging 1.00
R9170:Cog3 UTSW 14 75,966,802 (GRCm39) missense probably damaging 1.00
X0017:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
X0021:Cog3 UTSW 14 75,981,033 (GRCm39) missense possibly damaging 0.87
X0066:Cog3 UTSW 14 75,979,181 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCAGCCGCTTACATGCCATTC -3'
(R):5'- GGTCCATGCTATGTCAGTAATCTCTGC -3'

Sequencing Primer
(F):5'- TAGGGATGCACATGTCCTGAC -3'
(R):5'- CTCTGCTTAGTTAAAAGGCAGC -3'
Posted On 2014-05-23