Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Cog6'

243979

Institutional Source

Beutler Lab

Gene Symbol

Cog6

Ensembl Gene

ENSMUSG00000027742

Gene Name

component of oligomeric golgi complex 6

Synonyms

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52889544-52924644 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 52900332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 476 (C476*)

Ref Sequence

ENSEMBL: ENSMUSP00000141339 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036665
AA Change: C476*

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: C476*

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 null
Transcript: ENSMUST00000193432
AA Change: C476*

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: C476*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

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
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Cog6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Cog6	APN	3	52,893,846 (GRCm39)	missense	probably benign	0.03
IGL01946:Cog6	APN	3	52,909,825 (GRCm39)	intron	probably benign
IGL02122:Cog6	APN	3	52,905,763 (GRCm39)	missense	probably benign	0.04
IGL02589:Cog6	APN	3	52,914,691 (GRCm39)	missense	probably damaging	1.00
IGL02819:Cog6	APN	3	52,916,966 (GRCm39)	missense	probably damaging	0.98
R0045:Cog6	UTSW	3	52,900,171 (GRCm39)	splice site	probably null
R0045:Cog6	UTSW	3	52,900,171 (GRCm39)	splice site	probably null
R0086:Cog6	UTSW	3	52,900,991 (GRCm39)	missense	probably damaging	0.98
R0545:Cog6	UTSW	3	52,903,496 (GRCm39)	missense	probably damaging	1.00
R0707:Cog6	UTSW	3	52,921,283 (GRCm39)	missense	possibly damaging	0.71
R0718:Cog6	UTSW	3	52,918,050 (GRCm39)	missense	probably benign	0.35
R1169:Cog6	UTSW	3	52,921,265 (GRCm39)	missense	probably benign	0.30
R1451:Cog6	UTSW	3	52,916,534 (GRCm39)	missense	possibly damaging	0.78
R1891:Cog6	UTSW	3	52,890,601 (GRCm39)	missense	probably benign
R2249:Cog6	UTSW	3	52,907,900 (GRCm39)	critical splice donor site	probably null
R3745:Cog6	UTSW	3	52,900,240 (GRCm39)	missense	probably benign	0.05
R4027:Cog6	UTSW	3	52,909,950 (GRCm39)	missense	possibly damaging	0.95
R4230:Cog6	UTSW	3	52,900,229 (GRCm39)	missense	probably benign	0.13
R4400:Cog6	UTSW	3	52,920,362 (GRCm39)	missense	probably benign	0.11
R4551:Cog6	UTSW	3	52,905,741 (GRCm39)	missense	probably damaging	1.00
R4866:Cog6	UTSW	3	52,918,019 (GRCm39)	missense	probably benign	0.10
R5326:Cog6	UTSW	3	52,921,237 (GRCm39)	missense	probably null	0.12
R6169:Cog6	UTSW	3	52,914,722 (GRCm39)	missense	probably benign	0.03
R6273:Cog6	UTSW	3	52,903,473 (GRCm39)	missense	probably damaging	1.00
R7169:Cog6	UTSW	3	52,897,387 (GRCm39)	missense	possibly damaging	0.94
R7199:Cog6	UTSW	3	52,890,610 (GRCm39)	missense	probably benign	0.21
R7243:Cog6	UTSW	3	52,909,736 (GRCm39)	missense	probably damaging	1.00
R7299:Cog6	UTSW	3	52,909,928 (GRCm39)	missense	probably benign	0.01
R8254:Cog6	UTSW	3	52,900,938 (GRCm39)	missense	probably benign
R8687:Cog6	UTSW	3	52,892,338 (GRCm39)	missense	probably benign
R8759:Cog6	UTSW	3	52,897,465 (GRCm39)	missense	probably damaging	1.00
R8827:Cog6	UTSW	3	52,890,535 (GRCm39)	missense	probably benign
R9539:Cog6	UTSW	3	52,914,722 (GRCm39)	missense	probably benign	0.03
R9688:Cog6	UTSW	3	52,916,528 (GRCm39)	missense	probably benign	0.03
R9729:Cog6	UTSW	3	52,900,907 (GRCm39)	missense	probably damaging	0.98
Z1177:Cog6	UTSW	3	52,921,285 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTTGTCAAAAGCTGGTATGCTG -3'
(R):5'- CGATGCCTGTTGTTAAGCTATC -3'

Sequencing Primer
(F):5'- GCTGGTATGCTGAAAATGCAAAATC -3'
(R):5'- ATGCCTGTTGTTAAGCTATCTGGTC -3'

Posted On

2014-10-16