Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Cog6'

490294

Institutional Source

Beutler Lab

Gene Symbol

Cog6

Ensembl Gene

ENSMUSG00000027742

Gene Name

component of oligomeric golgi complex 6

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52981875-53017237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53007301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 245 (S245T)

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 benign
Transcript: ENSMUST00000036665
AA Change: S245T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: S245T

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

noncoding transcript
Transcript: ENSMUST00000193043

Predicted Effect

probably benign
Transcript: ENSMUST00000193432
AA Change: S245T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: S245T

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814	T306I	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731	V94I	probably null	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206	Q425*	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,400,233	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Unc45a	A	C	7: 80,328,763	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	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
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
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
Z1177:Cog6	UTSW	3	53013864	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGATTAAGCCACTCAGCTGC -3'
(R):5'- CTTTGAACATAGGGGATTTGCAGG -3'

Sequencing Primer
(F):5'- TAACCAAGAGACAACTGTACTGC -3'
(R):5'- CATAGGGGATTTGCAGGCACTTG -3'

Posted On

2017-10-10