Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02637:Cog3'

301583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02637

Quality Score

Status

Chromosome

Chromosomal Location

75939790-75991998 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 75959636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049168

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000227473

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,309,907 (GRCm39)	Y435C	probably damaging	Het
Adgrb1	C	T	15: 74,460,143 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,199 (GRCm39)		probably benign	Het
Camk1g	G	A	1: 193,030,696 (GRCm39)	P338S	probably benign	Het
Crat	A	G	2: 30,296,401 (GRCm39)	V355A	probably benign	Het
Ctla2a	T	A	13: 61,083,899 (GRCm39)		probably benign	Het
Dnaaf9	C	A	2: 130,656,227 (GRCm39)		probably benign	Het
Efhb	A	G	17: 53,756,580 (GRCm39)	I357T	probably benign	Het
Fh1	T	C	1: 175,437,332 (GRCm39)	M256V	probably benign	Het
Gabrg3	A	G	7: 56,384,775 (GRCm39)	I262T	probably damaging	Het
Gata2	C	T	6: 88,181,558 (GRCm39)		probably benign	Het
Gm6356	A	G	14: 6,970,926 (GRCm38)	V178A	possibly damaging	Het
Hacl1	T	C	14: 31,362,458 (GRCm39)	E63G	probably damaging	Het
Hid1	A	T	11: 115,241,421 (GRCm39)	I623N	probably damaging	Het
Hivep2	A	G	10: 14,006,452 (GRCm39)	K1017E	possibly damaging	Het
Ifi208	C	T	1: 173,506,508 (GRCm39)	T97I	probably benign	Het
Ighg1	T	C	12: 113,293,132 (GRCm39)	H186R	unknown	Het
Igkv8-26	T	C	6: 70,170,642 (GRCm39)	S78P	probably damaging	Het
Itih3	T	C	14: 30,637,617 (GRCm39)	N514S	probably benign	Het
Kcnj16	A	T	11: 110,916,439 (GRCm39)	D367V	probably benign	Het
Klhl23	A	T	2: 69,659,258 (GRCm39)	R428*	probably null	Het
Lgmn	T	C	12: 102,366,485 (GRCm39)	E216G	probably damaging	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp5	C	T	19: 3,680,269 (GRCm39)	G405D	probably benign	Het
Lrrc74a	C	T	12: 86,788,521 (GRCm39)	R53*	probably null	Het
Lsm12	G	A	11: 102,054,948 (GRCm39)	R123C	probably benign	Het
Marchf5	T	A	19: 37,198,033 (GRCm39)		probably benign	Het
Mark3	C	A	12: 111,559,090 (GRCm39)	A44D	probably damaging	Het
Mndal	T	A	1: 173,685,003 (GRCm39)	N522I	possibly damaging	Het
Nbeal2	G	T	9: 110,455,045 (GRCm39)	R2611S	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,482 (GRCm39)		noncoding transcript	Het
Npnt	T	A	3: 132,590,271 (GRCm39)	I507F	possibly damaging	Het
Or51a7	G	A	7: 102,622,250 (GRCm39)		probably benign	Het
Pde4a	T	A	9: 21,112,628 (GRCm39)	L91Q	probably damaging	Het
Pdzd2	C	T	15: 12,385,720 (GRCm39)	V1017M	probably benign	Het
Pkhd1l1	A	G	15: 44,427,720 (GRCm39)	N3259S	probably damaging	Het
Plxnb2	A	T	15: 89,048,260 (GRCm39)	H683Q	possibly damaging	Het
Reck	T	A	4: 43,898,009 (GRCm39)	S96T	probably damaging	Het
Rnf135	A	G	11: 80,089,704 (GRCm39)	K347E	probably benign	Het
Ro60	A	G	1: 143,646,526 (GRCm39)	V73A	probably damaging	Het
Rxfp2	A	G	5: 149,979,378 (GRCm39)	D246G	probably damaging	Het
Sdk1	C	T	5: 142,080,327 (GRCm39)	T1273I	probably damaging	Het
Slc12a8	A	T	16: 33,355,330 (GRCm39)	M49L	probably benign	Het
Slc5a11	A	T	7: 122,859,728 (GRCm39)		probably null	Het
Surf2	A	G	2: 26,809,790 (GRCm39)	K247E	probably damaging	Het
Sys1	G	A	2: 164,303,312 (GRCm39)	V9M	possibly damaging	Het
Tcf4	G	A	18: 69,480,421 (GRCm39)	D18N	probably damaging	Het
Tmc6	A	T	11: 117,658,416 (GRCm39)	V773D	possibly damaging	Het
Trappc13	T	C	13: 104,286,570 (GRCm39)	Q229R	probably benign	Het
Xkr5	T	C	8: 18,984,099 (GRCm39)	E481G	probably benign	Het
Xpo5	C	A	17: 46,546,905 (GRCm39)	D885E	probably damaging	Het

Other mutations in Cog3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Cog3	APN	14	75,968,044 (GRCm39)	missense	possibly damaging	0.79
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
R1735:Cog3	UTSW	14	75,966,761 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16