Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Cog6'

44740

Institutional Source

Beutler Lab

Gene Symbol

Cog6

Ensembl Gene

ENSMUSG00000027742

Gene Name

component of oligomeric golgi complex 6

Synonyms

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0545 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

52981875-53017237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52996075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 134 (M134K)

Ref Sequence

ENSEMBL: ENSMUSP00000141733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036665] [ENSMUST00000193432] [ENSMUST00000195183]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036665
AA Change: M406K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: M406K

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	656	N/A	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192788

Predicted Effect

probably damaging
Transcript: ENSMUST00000193432
AA Change: M406K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: M406K

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	625	5e-289	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194779

Predicted Effect

probably damaging
Transcript: ENSMUST00000195183
AA Change: M134K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742
AA Change: M134K

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
Pfam:COG6	39	174	5.5e-32	PFAM

Meta Mutation Damage Score

0.6878

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Cog6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Cog6	APN	3	52986425	missense	probably benign	0.03
IGL01946:Cog6	APN	3	53002404	intron	probably benign
IGL02122:Cog6	APN	3	52998342	missense	probably benign	0.04
IGL02589:Cog6	APN	3	53007270	missense	probably damaging	1.00
IGL02819:Cog6	APN	3	53009545	missense	probably damaging	0.98
R0045:Cog6	UTSW	3	52992750	splice site	probably null
R0045:Cog6	UTSW	3	52992750	splice site	probably null
R0086:Cog6	UTSW	3	52993570	missense	probably damaging	0.98
R0707:Cog6	UTSW	3	53013862	missense	possibly damaging	0.71
R0718:Cog6	UTSW	3	53010629	missense	probably benign	0.35
R1169:Cog6	UTSW	3	53013844	missense	probably benign	0.30
R1451:Cog6	UTSW	3	53009113	missense	possibly damaging	0.78
R1891:Cog6	UTSW	3	52983180	missense	probably benign
R2249:Cog6	UTSW	3	53000479	critical splice donor site	probably null
R2264:Cog6	UTSW	3	52992911	nonsense	probably null
R3745:Cog6	UTSW	3	52992819	missense	probably benign	0.05
R4027:Cog6	UTSW	3	53002529	missense	possibly damaging	0.95
R4230:Cog6	UTSW	3	52992808	missense	probably benign	0.13
R4400:Cog6	UTSW	3	53012941	missense	probably benign	0.11
R4551:Cog6	UTSW	3	52998320	missense	probably damaging	1.00
R4866:Cog6	UTSW	3	53010598	missense	probably benign	0.10
R5326:Cog6	UTSW	3	53013816	missense	probably null	0.12
R6169:Cog6	UTSW	3	53007301	missense	probably benign	0.03
R6273:Cog6	UTSW	3	52996052	missense	probably damaging	1.00
R7169:Cog6	UTSW	3	52989966	missense	possibly damaging	0.94
R7199:Cog6	UTSW	3	52983189	missense	probably benign	0.21
R7243:Cog6	UTSW	3	53002315	missense	probably damaging	1.00
R7299:Cog6	UTSW	3	53002507	missense	probably benign	0.01
R8254:Cog6	UTSW	3	52993517	missense	probably benign
R8687:Cog6	UTSW	3	52984917	missense	probably benign
R8759:Cog6	UTSW	3	52990044	missense	probably damaging	1.00
R8827:Cog6	UTSW	3	52983114	missense	probably benign
R9539:Cog6	UTSW	3	53007301	missense	probably benign	0.03
R9688:Cog6	UTSW	3	53009107	missense	probably benign	0.03
R9729:Cog6	UTSW	3	52993486	missense	probably damaging	0.98
Z1177:Cog6	UTSW	3	53013864	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTTCACTGTGTCACATCAGCTC -3'
(R):5'- GTGCATCTCCAGCCTCAGATTTAGG -3'

Sequencing Primer
(F):5'- GATTAACTCTGACCTGGGAGCTAC -3'
(R):5'- AGGAGATGAACTTCGTTGGC -3'

Posted On

2013-06-11