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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52889544-52924644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52914722 bp (GRCm39)

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: 3,888,005 (GRCm39)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 48,910,088 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,918,393 (GRCm39)	L676*	probably null	Het
Adgrv1	A	T	13: 81,567,378 (GRCm39)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Akap6	T	A	12: 53,189,141 (GRCm39)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,509,988 (GRCm39)	V793A	probably damaging	Het
Arid2	T	A	15: 96,266,558 (GRCm39)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Bbof1	C	T	12: 84,473,588 (GRCm39)	T306I	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,275,131 (GRCm39)	A351S	probably benign	Het
Cetn3	A	C	13: 81,940,097 (GRCm39)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,746,425 (GRCm39)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,004,731 (GRCm39)	V94I	probably null	Het
Disp2	T	A	2: 118,622,031 (GRCm39)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,409,147 (GRCm39)	P416S	probably benign	Het
Ep400	T	C	5: 110,889,863 (GRCm39)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,177,409 (GRCm39)		probably null	Het
Fyb2	T	C	4: 104,857,713 (GRCm39)	V630A	probably benign	Het
Gm43218	T	A	6: 70,217,606 (GRCm39)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,779,402 (GRCm39)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,126,930 (GRCm39)	A181E	probably benign	Het
Hrnr	C	G	3: 93,233,062 (GRCm39)	S1100*	probably null	Het
Htt	T	C	5: 35,064,817 (GRCm39)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,575,918 (GRCm39)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,579,577 (GRCm39)	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,778,598 (GRCm39)	F417S	probably benign	Het
Itgb4	T	C	11: 115,885,102 (GRCm39)	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,897,790 (GRCm39)	A24T	probably benign	Het
Itpr1	T	C	6: 108,346,077 (GRCm39)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,475,406 (GRCm39)	I455R	probably damaging	Het
Krt86	A	G	15: 101,374,170 (GRCm39)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,838,230 (GRCm39)	W11R	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,536,214 (GRCm39)	V210A	possibly damaging	Het
Mllt1	T	C	17: 57,206,822 (GRCm39)	T341A	probably benign	Het
Obscn	T	C	11: 58,891,325 (GRCm39)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,556,160 (GRCm39)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,184,479 (GRCm39)	I175T	probably benign	Het
Osgep	A	G	14: 51,157,209 (GRCm39)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,347,675 (GRCm39)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,350,443 (GRCm39)	E197V	probably null	Het
Pkn1	G	A	8: 84,407,835 (GRCm39)	Q425*	probably null	Het
Pramel22	T	C	4: 143,380,685 (GRCm39)	Y446C	probably benign	Het
Prss35	T	C	9: 86,637,491 (GRCm39)	I87T	probably benign	Het
Psmc3	T	C	2: 90,888,184 (GRCm39)	F304S	probably damaging	Het
Psmd11	T	A	11: 80,351,539 (GRCm39)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,292,385 (GRCm39)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,428,894 (GRCm39)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,848,913 (GRCm39)	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,405,044 (GRCm39)	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,562,388 (GRCm39)	V255A	probably damaging	Het
Smc3	T	A	19: 53,622,517 (GRCm39)	N697K	probably benign	Het
Snai1	C	A	2: 167,380,831 (GRCm39)	P108Q	probably benign	Het
Stim2	T	G	5: 54,276,021 (GRCm39)	L732R	probably damaging	Het
Syde1	A	G	10: 78,421,938 (GRCm39)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,845,996 (GRCm39)	M200K	probably benign	Het
Tenm2	T	A	11: 36,030,517 (GRCm39)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,666,262 (GRCm39)	N261K	probably benign	Het
Tlr2	C	A	3: 83,745,455 (GRCm39)	E209D	probably benign	Het
Tpp2	T	C	1: 44,022,739 (GRCm39)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,304,704 (GRCm39)		probably benign	Het
Unc45a	A	C	7: 79,978,511 (GRCm39)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,534,910 (GRCm39)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,104,382 (GRCm39)	V335A	probably benign	Het
Wwc2	A	T	8: 48,311,878 (GRCm39)	S762T	unknown	Het
Yeats2	A	G	16: 20,038,417 (GRCm39)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,251,558 (GRCm39)	V198A	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
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
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'- CTGATTAAGCCACTCAGCTGC -3'
(R):5'- CTTTGAACATAGGGGATTTGCAGG -3'

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

Posted On

2017-10-10