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

52889544-52924644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52903496 bp (GRCm39)

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: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
F10	T	A	8: 13,098,249 (GRCm39)	C151S	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6c209	T	A	10: 129,483,218 (GRCm39)	C74S	probably damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Pygb	A	T	2: 150,657,626 (GRCm39)	D363V	probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,759,195 (GRCm39)		probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het
Zfp729a	C	A	13: 67,768,345 (GRCm39)	C628F	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
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
R2264:Cog6	UTSW	3	52,900,332 (GRCm39)	nonsense	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'- GGCTTCACTGTGTCACATCAGCTC -3'
(R):5'- GTGCATCTCCAGCCTCAGATTTAGG -3'

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

Posted On

2013-06-11