Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Cog3'

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

Chromosomal Location

75702350-75754517 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 75729321 bp (GRCm38)

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*

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 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	C	9: 8,027,265	S91A	probably benign	Het
Acot5	A	T	12: 84,075,487	I282F	probably benign	Het
Adam19	C	A	11: 46,138,917	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,487,947	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,487,208	D316G	probably benign	Het
Ap3b1	G	A	13: 94,493,717	V827I	unknown	Het
Aph1a	T	A	3: 95,895,509	D140E	probably damaging	Het
Arhgef19	G	T	4: 141,249,618	V502L	possibly damaging	Het
Arl9	T	C	5: 77,006,626	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,363,940		probably benign	Het
B4galnt2	A	G	11: 95,890,983	F119L	probably damaging	Het
Bcap29	T	A	12: 31,630,840	N49I	probably damaging	Het
C77080	G	T	4: 129,223,577	S476R	probably damaging	Het
Capn11	T	A	17: 45,632,401	K616*	probably null	Het
Cdh12	T	A	15: 21,520,366	Y306N	probably damaging	Het
Cep350	T	A	1: 155,953,214	N315Y	probably damaging	Het
Cited2	C	A	10: 17,724,046	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,089,789	D2930E	probably benign	Het
Commd10	A	G	18: 46,990,485	T136A	probably benign	Het
Csf2ra	C	A	19: 61,226,344	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,932,610	I2686F	probably damaging	Het
Dhx29	T	C	13: 112,945,086	S415P	probably benign	Het
Dsel	A	T	1: 111,860,915	F630Y	probably damaging	Het
Ell	T	A	8: 70,578,940	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,088,303	I358L	probably benign	Het
Fam162b	A	G	10: 51,587,211	I120T	probably damaging	Het
Fam187a	T	C	11: 102,885,780	Y137H	probably damaging	Het
Fastk	T	C	5: 24,441,803	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,907,332	V409F	probably benign	Het
Flot2	G	T	11: 78,058,005	A269S	probably benign	Het
Gpd2	T	A	2: 57,355,551	N419K	probably damaging	Het
Hecw1	A	T	13: 14,377,765	M61K	probably null	Het
Htr2a	T	C	14: 74,706,128	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,350,965	T125A	probably benign	Het
Klhl40	T	C	9: 121,779,938	S390P	probably benign	Het
Lonp1	G	A	17: 56,614,956	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,404,889	D1342A	probably damaging	Het
Lrat	T	C	3: 82,897,110	I187V	probably benign	Het
Lrif1	T	C	3: 106,735,846	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,011,988	F48S	probably benign	Het
Mafg	A	G	11: 120,629,678	M32T	possibly damaging	Het
Map4	C	T	9: 110,034,955	T416I	probably benign	Het
N4bp2	T	C	5: 65,808,316	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,083,834	D414G	probably damaging	Het
Nrip2	T	G	6: 128,405,074	V50G	probably damaging	Het
Olfr1449	T	A	19: 12,934,843	I35N	probably damaging	Het
Olfr16	A	G	1: 172,956,807	N4S	probably benign	Het
Olfr432	A	T	1: 174,050,799	K142I	probably benign	Het
Olfr608	T	A	7: 103,470,146	F36I	possibly damaging	Het
Pcdhb18	A	T	18: 37,490,769	H384L	probably benign	Het
Pik3r1	A	T	13: 101,686,374	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,232,477	T168I	probably damaging	Het
Polr2a	A	G	11: 69,742,396	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,495	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,342,039	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,444,540	R470G	probably damaging	Het
Rasal2	T	C	1: 157,174,160	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 78,506,082	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,884,585	Y306C	probably benign	Het
Rtn3	T	C	19: 7,457,911	I220V	probably damaging	Het
Scn8a	A	G	15: 101,015,861	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,607,437	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,000,652	I690T	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint5	A	G	4: 113,563,459	I1108T	unknown	Het
Snip1	A	G	4: 125,071,201	D133G	probably benign	Het
St3gal3	T	C	4: 118,014,774	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,715,481	V112A	probably benign	Het
Tnxb	C	T	17: 34,717,970	P3718S	probably damaging	Het
Ttc24	A	T	3: 88,073,094		probably null	Het
Ubr3	A	T	2: 70,009,129	E1529V	probably damaging	Het
Utrn	T	A	10: 12,710,138	H965L	probably benign	Het
Xrn2	T	A	2: 147,061,423	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,990,682	I401T	probably benign	Het
Zc3h14	C	T	12: 98,758,580	P167L	probably damaging	Het
Zfp609	G	T	9: 65,703,092	S863*	probably null	Het

Other mutations in Cog3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Cog3	APN	14	75730604	missense	possibly damaging	0.79
IGL02637:Cog3	APN	14	75722196	splice site	probably benign
IGL02934:Cog3	APN	14	75741689	missense	probably damaging	0.99
R0105:Cog3	UTSW	14	75722140	missense	probably damaging	0.99
R0105:Cog3	UTSW	14	75722140	missense	probably damaging	0.99
R0403:Cog3	UTSW	14	75742327	splice site	probably benign
R0972:Cog3	UTSW	14	75717170	missense	probably benign
R1813:Cog3	UTSW	14	75742344	missense	probably benign	0.03
R1896:Cog3	UTSW	14	75742344	missense	probably benign	0.03
R2517:Cog3	UTSW	14	75741742	missense	probably benign	0.01
R2567:Cog3	UTSW	14	75754290	missense	probably benign
R2962:Cog3	UTSW	14	75740534	critical splice donor site	probably null
R3103:Cog3	UTSW	14	75747201	critical splice acceptor site	probably null
R3689:Cog3	UTSW	14	75754438	start codon destroyed	probably null
R3691:Cog3	UTSW	14	75754438	start codon destroyed	probably null
R3927:Cog3	UTSW	14	75743558	splice site	probably benign
R4581:Cog3	UTSW	14	75732951	missense	probably benign	0.04
R4932:Cog3	UTSW	14	75732954	missense	probably damaging	0.98
R5560:Cog3	UTSW	14	75729393	missense	probably damaging	1.00
R5654:Cog3	UTSW	14	75724799	missense	probably benign	0.03
R6253:Cog3	UTSW	14	75719712	missense	probably damaging	1.00
R6419:Cog3	UTSW	14	75724738	nonsense	probably null
R6791:Cog3	UTSW	14	75730678	missense	probably damaging	1.00
R6803:Cog3	UTSW	14	75704039	missense	probably benign	0.00
R7015:Cog3	UTSW	14	75713276	missense	possibly damaging	0.81
R7998:Cog3	UTSW	14	75747093	missense	possibly damaging	0.94
R7999:Cog3	UTSW	14	75747093	missense	possibly damaging	0.94
R8075:Cog3	UTSW	14	75730702	missense	probably damaging	1.00
R8294:Cog3	UTSW	14	75717179	missense	probably damaging	1.00
R8329:Cog3	UTSW	14	75740563	missense	probably damaging	0.99
R8434:Cog3	UTSW	14	75742396	missense	probably damaging	1.00
R9170:Cog3	UTSW	14	75729362	missense	probably damaging	1.00
X0017:Cog3	UTSW	14	75741741	missense	probably benign	0.01
X0021:Cog3	UTSW	14	75743593	missense	possibly damaging	0.87
X0066:Cog3	UTSW	14	75741741	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