Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00763:Cog5'

9796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cog5

Ensembl Gene

ENSMUSG00000035933

Gene Name

component of oligomeric golgi complex 5

Synonyms

5430405C01Rik, GOLTC1, GTC90

Accession Numbers

Ensembl: ENSMUST00000036862; MGI: 2145130

Is this an essential gene?

Probably essential (E-score: 0.916) question?

Stock #

IGL00763

Quality Score

Status

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 31665532 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036862]

Predicted Effect

probably benign
Transcript: ENSMUST00000036862

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:COG5	35	158	3.8e-37	PFAM
Pfam:Vps51	37	120	1.8e-12	PFAM

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 is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

Allele List at MGI

All alleles(99) : Gene trapped(99)

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	G	11: 58,612,881		probably benign	Het
Bmp3	A	C	5: 98,872,379	R220S	possibly damaging	Het
Bms1	A	G	6: 118,418,402		probably benign	Het
Ccdc138	T	A	10: 58,575,715	F635Y	probably damaging	Het
Ccdc81	T	C	7: 89,869,615		probably benign	Het
Cntnap5a	T	C	1: 116,117,677	I341T	possibly damaging	Het
Dcaf4	G	A	12: 83,539,333	R358H	probably damaging	Het
Ddx10	A	C	9: 53,160,026		probably benign	Het
Fgf15	T	A	7: 144,899,892	F201I	probably damaging	Het
Galp	A	G	7: 6,208,500	Y40C	probably damaging	Het
Ints6	A	G	14: 62,700,865		probably benign	Het
Iqcb1	A	T	16: 36,856,287		probably benign	Het
Kif19a	G	A	11: 114,767,168	V18I	probably benign	Het
Morc1	A	C	16: 48,612,326	Q719P	probably damaging	Het
Pla2g4a	T	C	1: 149,851,325	D568G	probably damaging	Het
Plscr4	A	G	9: 92,484,945	E204G	probably null	Het
Rasgrf1	A	G	9: 89,971,020	T403A	probably benign	Het
Sec16b	A	G	1: 157,529,257	T12A	probably benign	Het
Slc12a7	A	T	13: 73,794,082	N359I	possibly damaging	Het
Slc14a2	G	T	18: 78,192,238	D241E	probably damaging	Het
Slc23a2	G	T	2: 132,101,500	A27E	probably benign	Het
Slc38a8	T	C	8: 119,494,219	I200M	probably benign	Het
Thrap3	C	T	4: 126,165,578	G892S	probably benign	Het
Tmc6	A	G	11: 117,779,046	L20P	probably damaging	Het
Tnfsfm13	T	C	11: 69,684,710	D256G	probably benign	Het
Tonsl	C	T	15: 76,633,868	A605T	probably damaging	Het
Usp28	A	G	9: 49,028,163	T240A	probably benign	Het
Zap70	A	T	1: 36,779,252	D340V	possibly damaging	Het
Zfp512b	A	T	2: 181,590,151	F100I	probably damaging	Het

Other mutations in Cog5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cog5	APN	12	31685704	missense	probably damaging	1.00
IGL00495:Cog5	APN	12	31837309	missense	probably benign	0.06
IGL00789:Cog5	APN	12	31760952	missense	possibly damaging	0.95
IGL01288:Cog5	APN	12	31886206	missense	probably benign	0.13
IGL01315:Cog5	APN	12	31760986	splice site	probably benign
IGL01396:Cog5	APN	12	31894096	missense	probably benign	0.01
IGL02468:Cog5	APN	12	31837358	critical splice donor site	probably null
IGL03030:Cog5	APN	12	31790922	missense	probably damaging	0.99
IGL03346:Cog5	APN	12	31894038	missense	possibly damaging	0.88
R0201:Cog5	UTSW	12	31839841	missense	probably damaging	0.99
R0356:Cog5	UTSW	12	31837181	splice site	probably benign
R0492:Cog5	UTSW	12	31869461	missense	probably damaging	1.00
R0646:Cog5	UTSW	12	31837359	splice site	probably benign
R0971:Cog5	UTSW	12	31919678	missense	probably benign	0.11
R1158:Cog5	UTSW	12	31870057	splice site	probably benign
R1997:Cog5	UTSW	12	31660849	missense	possibly damaging	0.66
R2167:Cog5	UTSW	12	31837289	missense	probably damaging	0.99
R4414:Cog5	UTSW	12	31660854	nonsense	probably null
R4755:Cog5	UTSW	12	31869406	splice site	probably null
R4836:Cog5	UTSW	12	31919733	missense	probably benign	0.07
R5017:Cog5	UTSW	12	31920605	missense	probably benign	0.29
R5256:Cog5	UTSW	12	31886205	missense	probably benign
R5986:Cog5	UTSW	12	31660717	missense	probably benign	0.03
R6131:Cog5	UTSW	12	31886221	missense	possibly damaging	0.47
R6885:Cog5	UTSW	12	31894199	missense	probably damaging	1.00
R7056:Cog5	UTSW	12	31665469	missense	possibly damaging	0.65
R7177:Cog5	UTSW	12	31760889	missense	probably damaging	1.00
R7182:Cog5	UTSW	12	31685708	missense	probably damaging	1.00
R7418:Cog5	UTSW	12	31833241	missense	probably damaging	1.00
R7445:Cog5	UTSW	12	31919672	missense	possibly damaging	0.64
R7585:Cog5	UTSW	12	31760889	missense	probably damaging	1.00
X0062:Cog5	UTSW	12	31685692	missense	probably benign	0.01
Z1177:Cog5	UTSW	12	31801985	missense	probably damaging	1.00

Posted On

2012-12-06