Mutagenetix > Incidental Mutations

Incidental Mutation 'R3745:Cog6'

271153

Institutional Source

Beutler Lab

Gene Symbol

Cog6

Ensembl Gene

ENSMUSG00000027742

Gene Name

component of oligomeric golgi complex 6

Synonyms

MMRRC Submission

040731-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52981875-53017237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52992819 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 507 (M507K)

Ref Sequence

ENSEMBL: ENSMUSP00000048603 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036665
AA Change: M507K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: M507K

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 benign
Transcript: ENSMUST00000193432
AA Change: M507K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: M507K

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 benign
Transcript: ENSMUST00000195183

SMART Domains

Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742

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

0.1714

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587		probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732	C36S	probably damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185	T284I	unknown	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726	D289E	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
R0545:Cog6	UTSW	3	52996075	missense	probably damaging	1.00
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
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
Z1177:Cog6	UTSW	3	53013864	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATGCATGTGTTTACATCCTC -3'
(R):5'- GTTAGCTGGCTATCCTCAGTTAG -3'

Sequencing Primer
(F):5'- CATCCTCTGGATAGACTACCTTAAGG -3'
(R):5'- GGCTATCCTCAGTTAGTTTTGC -3'

Posted On

2015-03-18