Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Cog7'

279541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cog7

Ensembl Gene

ENSMUSG00000034951

Gene Name

component of oligomeric golgi complex 7

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

121879363-121981711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121963247 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 234 (A234E)

Ref Sequence

ENSEMBL: ENSMUSP00000058990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057576] [ENSMUST00000205438]

Predicted Effect

probably benign
Transcript: ENSMUST00000057576
AA Change: A234E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: A234E

Domain	Start	End	E-Value	Type
Pfam:COG7	2	767	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148634

Predicted Effect

probably benign
Transcript: ENSMUST00000205438
AA Change: A234E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	Het

Other mutations in Cog7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Cog7	APN	7	121943777	critical splice donor site	probably null
IGL02113:Cog7	APN	7	121925480	missense	probably damaging	1.00
IGL02151:Cog7	APN	7	121943808	missense	probably damaging	0.97
IGL02365:Cog7	APN	7	121977736	missense	possibly damaging	0.56
IGL02398:Cog7	APN	7	121964209	missense	probably damaging	1.00
IGL02732:Cog7	APN	7	121923367	missense	probably benign	0.05
IGL02887:Cog7	APN	7	121943844	missense	possibly damaging	0.83
R0143:Cog7	UTSW	7	121951164	missense	probably damaging	1.00
R0446:Cog7	UTSW	7	121937072	missense	probably benign
R0521:Cog7	UTSW	7	121941169	critical splice donor site	probably null
R0526:Cog7	UTSW	7	121963271	splice site	probably null
R0658:Cog7	UTSW	7	121956140	splice site	probably benign
R0782:Cog7	UTSW	7	121943797	missense	possibly damaging	0.86
R1029:Cog7	UTSW	7	121930529	critical splice donor site	probably null
R1419:Cog7	UTSW	7	121955992	missense	probably damaging	0.99
R1521:Cog7	UTSW	7	121930574	missense	possibly damaging	0.57
R1639:Cog7	UTSW	7	121981419	missense	probably damaging	1.00
R2023:Cog7	UTSW	7	121936970	missense	probably damaging	0.99
R3896:Cog7	UTSW	7	121941169	critical splice donor site	probably benign
R4240:Cog7	UTSW	7	121925484	missense	possibly damaging	0.50
R4731:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4732:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4733:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4838:Cog7	UTSW	7	121971381	missense	probably damaging	1.00
R5001:Cog7	UTSW	7	121949886	missense	probably damaging	1.00
R5237:Cog7	UTSW	7	121951221	missense	probably damaging	1.00
R5353:Cog7	UTSW	7	121941247	splice site	probably null
R5609:Cog7	UTSW	7	121925460	missense	probably benign	0.12
R5964:Cog7	UTSW	7	121956029	missense	probably damaging	0.99
R6544:Cog7	UTSW	7	121935743	missense	probably damaging	0.99
R6784:Cog7	UTSW	7	121964293	splice site	probably null
R7110:Cog7	UTSW	7	121935776	missense	probably damaging	0.98
R7212:Cog7	UTSW	7	121977314	missense	probably damaging	0.98
R7304:Cog7	UTSW	7	121937139	missense	probably benign	0.04
R8185:Cog7	UTSW	7	121977746	missense	probably damaging	1.00
R8207:Cog7	UTSW	7	121977292	missense	possibly damaging	0.70
X0066:Cog7	UTSW	7	121977624	missense	probably damaging	1.00

Posted On

2015-04-16