Mutagenetix > Incidental Mutations

Incidental Mutation 'R1813:Cog3'

202587

Institutional Source

Beutler Lab

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75702350-75754517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75742344 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 182 (E182D)

Ref Sequence

ENSEMBL: ENSMUSP00000045016 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049168
AA Change: E182D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: E182D

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: ENSMUST00000158780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226686

Predicted Effect

probably benign
Transcript: ENSMUST00000227473
AA Change: E172D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.1928

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly 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
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
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
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'- CAAAACAAGGAAGTCTGCCG -3'
(R):5'- AGCAGTGGGTCAGATTTACACC -3'

Sequencing Primer
(F):5'- AAGTCTGCCGGGGCTCTG -3'
(R):5'- GGGGGAAAATATTATTGCCAATCCCC -3'

Posted On

2014-06-23