Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01315:Cog5'

73835

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: 0.927) question?

Stock #

IGL01315

Quality Score

Status

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 31760986 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	T	C	5: 30,893,234	S409P	probably benign	Het
Ankdd1a	T	A	9: 65,508,702	H187L	probably damaging	Het
Ap2a1	A	T	7: 44,916,289	D51E	possibly damaging	Het
Eif3h	T	C	15: 51,842,485	D91G	probably damaging	Het
Ell2	A	G	13: 75,762,232		probably benign	Het
Epha4	A	G	1: 77,398,557	V551A	probably benign	Het
Gpc2	A	G	5: 138,276,039	S354P	probably benign	Het
Gramd1a	A	G	7: 31,142,568	F140L	probably damaging	Het
Hnmt	A	G	2: 24,019,168	Y78H	probably benign	Het
Ighe	T	A	12: 113,271,352	H396L	unknown	Het
Krt83	A	G	15: 101,486,967		probably benign	Het
Mgat5b	T	C	11: 116,923,389	S40P	probably damaging	Het
Mov10	A	G	3: 104,795,945	V876A	probably damaging	Het
Nbeal1	T	C	1: 60,281,341	V2031A	probably damaging	Het
Nov	T	C	15: 54,749,260	S222P	probably damaging	Het
Ntm	T	A	9: 29,014,184	S26C	probably damaging	Het
Pcsk5	G	A	19: 17,451,958	T1552I	probably damaging	Het
Pex1	A	T	5: 3,609,975	D453V	probably damaging	Het
Pkd2l1	C	T	19: 44,192,196	D27N	probably benign	Het
Plppr5	G	T	3: 117,662,526	C232F	probably damaging	Het
Slc39a2	G	T	14: 51,895,136	E179*	probably null	Het
Slc8a3	A	G	12: 81,314,395	V550A	probably damaging	Het
Smc5	T	A	19: 23,231,604	T626S	probably benign	Het
Tars	A	C	15: 11,389,734	Y363*	probably null	Het
Unc79	T	C	12: 103,088,521	I906T	possibly damaging	Het
Ush2a	C	T	1: 188,633,614	P2222S	possibly damaging	Het
Wdr31	A	C	4: 62,455,837	V306G	probably damaging	Het
Zdhhc1	C	A	8: 105,472,998	R389S	probably benign	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
IGL00763:Cog5	APN	12	31665532	splice site	probably benign
IGL00789:Cog5	APN	12	31760952	missense	possibly damaging	0.95
IGL01288:Cog5	APN	12	31886206	missense	probably benign	0.13
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
R8332:Cog5	UTSW	12	31833223	nonsense	probably null
X0062:Cog5	UTSW	12	31685692	missense	probably benign	0.01
Z1177:Cog5	UTSW	12	31801985	missense	probably damaging	1.00

Posted On

2013-10-07