Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Cog3'

518030

Institutional Source

Beutler Lab

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75702350-75754517 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75724738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 554 (C554*)

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: C564*

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: C564*

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: C554*

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473		probably benign	Het
Abcc2	T	A	19: 43,837,508		probably null	Het
Adamts12	C	T	15: 11,215,673	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,333,675	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,439,316	E34G	probably damaging	Het
Asah1	A	T	8: 41,343,766	I293N	probably damaging	Het
B3galt2	A	T	1: 143,647,101	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,242,494	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,690,326	N204K	probably damaging	Het
Cd36	C	T	5: 17,797,152	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,397	L316S	probably damaging	Het
Cenpv	T	C	11: 62,525,182	K247R	probably benign	Het
Cldn18	T	C	9: 99,692,748	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,114,065	Y197N	probably damaging	Het
Col4a4	A	G	1: 82,466,486		probably null	Het
Cops5	G	A	1: 10,033,307	T158I	probably damaging	Het
Dhh	A	G	15: 98,894,401	F242S	probably damaging	Het
Dot1l	T	C	10: 80,791,481	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,939,987	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,657,249	D326N	probably damaging	Het
Enpp3	A	T	10: 24,808,191	Y52N	probably damaging	Het
Fam214a	G	A	9: 75,009,337	S413N	probably benign	Het
Gabra2	A	G	5: 70,962,083	S359P	probably benign	Het
Gbp7	G	A	3: 142,546,453	G599E	probably benign	Het
Gcat	T	G	15: 79,036,064	I198S	probably damaging	Het
Gm8439	A	G	4: 120,609,558	K82R	unknown	Het
Grin2b	A	G	6: 135,740,967	F709S	probably damaging	Het
Grm3	T	C	5: 9,570,201	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,770,092		probably benign	Het
Hmgxb3	G	T	18: 61,152,224	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Impg1	A	G	9: 80,380,018	V305A	probably benign	Het
Ints7	T	A	1: 191,602,302	S313T	possibly damaging	Het
Knl1	T	A	2: 119,069,003	I395K	probably benign	Het
Lactb2	A	T	1: 13,638,235	Y196*	probably null	Het
Lad1	T	C	1: 135,831,892	S509P	possibly damaging	Het
Ltf	T	C	9: 111,031,022	F504L	possibly damaging	Het
Med4	A	T	14: 73,513,923	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,410,247	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,241,099	T54A	probably benign	Het
Notch2	G	T	3: 98,100,389		probably null	Het
Ntng1	A	T	3: 109,782,853	N424K	possibly damaging	Het
Ntrk2	G	A	13: 58,861,299	W301*	probably null	Het
Olfr1471	T	A	19: 13,445,767	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766	S113P	possibly damaging	Het
Papd7	A	C	13: 69,510,666	M350R	possibly damaging	Het
Pcdhb20	A	G	18: 37,505,555	N378S	probably damaging	Het
Polr3b	T	C	10: 84,638,111	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,264,037	R31C	probably benign	Het
Rgsl1	C	T	1: 153,822,371	V478M	probably damaging	Het
Sema6b	A	T	17: 56,132,784	L19*	probably null	Het
Slfn8	A	G	11: 83,004,055		probably null	Het
Spen	A	T	4: 141,476,310	S1669T	unknown	Het
Syne2	T	C	12: 76,096,966	F1522L	probably damaging	Het
Tarbp1	C	T	8: 126,459,044	A470T	possibly damaging	Het
Tiam1	C	A	16: 89,898,024	E182*	probably null	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trip12	C	T	1: 84,793,870	A186T	probably damaging	Het
Ufc1	C	T	1: 171,288,956	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,383,607	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,175,219	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,811,559	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,446,926	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,157,376	V28A	probably benign	Het
Wdr19	A	G	5: 65,215,893	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,704,808	G33R	probably damaging	Het
Zfp330	T	G	8: 82,764,916	K209N	probably benign	Het
Zfp493	A	G	13: 67,786,407	T160A	probably benign	Het
Zfp974	A	T	7: 27,911,515	C262S	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
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
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'- TTACCCACAGTTTCAATGAGCC -3'
(R):5'- CCTGTCACTGGTTTAGACTTCTAGG -3'

Sequencing Primer
(F):5'- TGAGCCCTTAAAATAGATCAACCTTC -3'
(R):5'- GGGGAATTGATGATAGCCAATG -3'

Posted On

2018-05-24