Mutagenetix > Incidental Mutations

Incidental Mutation 'R0105:Cog3'

33279

Institutional Source

Beutler Lab

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

MMRRC Submission

038391-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0105 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75702350-75754517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75722140 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 591 (S591P)

Ref Sequence

ENSEMBL: ENSMUSP00000045016 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049168
AA Change: S591P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: S591P

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 damaging
Transcript: ENSMUST00000227473
AA Change: S581P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.9105

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (70/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,187,392	V698D	probably benign	Het
5530400C23Rik	G	A	6: 133,294,314	R107K	probably benign	Het
A530053G22Rik	T	C	6: 60,402,152		noncoding transcript	Het
Adcy9	A	G	16: 4,288,388	V954A	probably damaging	Het
Aldh8a1	T	A	10: 21,395,539	M388K	probably damaging	Het
Ankhd1	A	G	18: 36,646,766	I1720M	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,129		probably benign	Het
C1qtnf4	T	A	2: 90,890,363	*327R	probably null	Het
C1s1	T	C	6: 124,541,318		probably benign	Het
Cdsn	A	C	17: 35,556,138	R521S	possibly damaging	Het
Cgnl1	T	C	9: 71,656,102	M848V	probably benign	Het
Col6a3	A	G	1: 90,798,161	V1375A	possibly damaging	Het
Cr1l	A	G	1: 195,112,412		probably benign	Het
Crmp1	T	A	5: 37,284,135	D520E	probably damaging	Het
Ctdspl2	T	A	2: 121,977,320		probably benign	Het
Dnah6	C	T	6: 73,155,279	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,602,054	S1030P	probably benign	Het
Elavl3	C	A	9: 22,036,833	V12F	possibly damaging	Het
Fam20b	T	C	1: 156,690,570	E218G	probably damaging	Het
Fam227a	T	C	15: 79,620,832	D466G	possibly damaging	Het
Fto	G	A	8: 91,522,802	E421K	probably damaging	Het
Gab2	T	C	7: 97,299,072	Y290H	probably damaging	Het
Gm973	A	G	1: 59,582,474	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,828,177	T249A	probably benign	Het
Il15ra	T	A	2: 11,730,648		probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,442,574		probably benign	Het
Il6ra	A	G	3: 89,876,818	I382T	probably damaging	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Krt76	T	C	15: 101,884,912	T564A	unknown	Het
Lhpp	T	C	7: 132,630,525	S57P	probably damaging	Het
Lrrk1	G	T	7: 66,292,341	D716E	probably damaging	Het
Mcm3ap	T	A	10: 76,499,534	D1263E	probably damaging	Het
Mogat1	A	G	1: 78,523,670	T124A	probably benign	Het
Mroh7	T	C	4: 106,711,270	T48A	possibly damaging	Het
Nccrp1	T	C	7: 28,547,038	D33G	probably benign	Het
Neurog1	G	T	13: 56,251,237	D232E	probably benign	Het
Olfr1202	T	A	2: 88,817,909	V246D	probably damaging	Het
Olfr1243	T	C	2: 89,528,363	T16A	probably benign	Het
Otog	C	A	7: 46,288,366	T1833K	possibly damaging	Het
Perm1	C	A	4: 156,218,225	H409N	probably benign	Het
Pik3r5	A	T	11: 68,490,511	E174D	probably damaging	Het
Pkhd1	G	A	1: 20,523,732	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,514,981	R344G	possibly damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plekhg4	G	A	8: 105,382,012	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,798,446	Y118C	probably damaging	Het
Prrc2b	G	T	2: 32,213,311	E934*	probably null	Het
Psmb9	A	G	17: 34,187,275	F12S	probably benign	Het
Ptdss2	T	C	7: 141,152,880	W183R	probably damaging	Het
Ptpn4	C	T	1: 119,687,605		probably null	Het
Reln	G	A	5: 22,048,815	R600W	probably damaging	Het
Scml4	T	A	10: 42,930,599	V161E	probably damaging	Het
Sdcbp2	A	T	2: 151,589,558	T284S	probably benign	Het
Slc22a29	T	C	19: 8,160,627		probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Spen	T	C	4: 141,469,810		probably benign	Het
Sumf2	T	A	5: 129,849,894		probably benign	Het
Tbx10	A	G	19: 3,993,121		probably benign	Het
Tex10	C	A	4: 48,468,957	V73F	probably damaging	Het
Tgm5	C	A	2: 121,077,012	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,040,191		probably null	Het
Treml2	C	T	17: 48,302,828	T96I	probably damaging	Het
Trim65	T	C	11: 116,126,066	*523W	probably null	Het
Zcchc17	T	A	4: 130,349,306	D28V	probably benign	Het
Zhx2	T	C	15: 57,822,695	F487L	probably damaging	Het
Zkscan6	T	A	11: 65,821,985	L248Q	probably damaging	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
R0403:Cog3	UTSW	14	75742327	splice site	probably benign
R0972:Cog3	UTSW	14	75717170	missense	probably benign
R1735:Cog3	UTSW	14	75729321	nonsense	probably null
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
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'- AGAGCAGTCCTCTGTGAGCACTAC -3'
(R):5'- TAAAGGCCCTCCGAGCATTTCCAG -3'

Sequencing Primer
(F):5'- TCCCTCAAAGGGTCTCGAAATTC -3'
(R):5'- CATTTCCAGACACGAGTGC -3'

Posted On

2013-05-09