Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Cog5'

235563

Institutional Source

Beutler Lab

Gene Symbol

Cog5

Ensembl Gene

ENSMUSG00000035933

Gene Name

component of oligomeric golgi complex 5

Synonyms

5430405C01Rik, GOLTC1, GTC90

MMRRC Submission

040170-MU

Accession Numbers

Ensembl: ENSMUST00000036862; MGI: 2145130

Is this an essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31837289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 470 (F470L)

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

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

AlphaFold

Q8C0L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036862
AA Change: F470L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: F470L

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

Meta Mutation Damage Score

0.5465

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,288,532	T710M	probably benign	Het
Acan	A	G	7: 79,099,957	E1492G	probably benign	Het
Acsl1	A	G	8: 46,533,590	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,327,157	T207K	probably benign	Het
Ahnak	A	T	19: 9,011,494	K3381*	probably null	Het
Art1	T	C	7: 102,106,824	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,662,504	W270R	probably benign	Het
Calm2	T	C	17: 87,435,145	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,854,084	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,317,677	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,413,193	T768A	probably damaging	Het
Cpne5	T	C	17: 29,162,332	D374G	probably damaging	Het
Disp2	A	C	2: 118,791,685	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,873,919		probably benign	Het
Eif2b3	T	A	4: 117,028,540	I93N	probably damaging	Het
Elfn2	C	A	15: 78,672,446	V634L	probably benign	Het
Fasl	T	G	1: 161,787,138	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,902	P701A	probably damaging	Het
Helz	T	A	11: 107,672,964		probably benign	Het
Kctd6	T	C	14: 8,222,683	V175A	probably benign	Het
Leo1	A	G	9: 75,445,709	N178S	probably benign	Het
Lhx6	C	A	2: 36,103,359	R80L	probably damaging	Het
Man1a2	A	G	3: 100,591,900	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,597,482	F231L	probably damaging	Het
Mknk2	A	G	10: 80,668,701	Y256H	probably damaging	Het
Msh6	A	G	17: 87,989,483	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,638,308	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,568,481	Q66K	probably benign	Het
Nsd2	T	A	5: 33,882,919	H933Q	probably damaging	Het
Olfr1341	T	C	4: 118,710,055	V216A	probably benign	Het
Olfr1564	T	A	17: 33,215,568	I262F	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr709-ps1	A	G	7: 106,926,590	Y290H	probably damaging	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rassf6	C	T	5: 90,603,938	E308K	probably damaging	Het
Rb1	T	C	14: 73,211,651	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,110,853	I104F	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnase6	A	C	14: 51,130,517	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sec31b	G	A	19: 44,543,353	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,173,681	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,491,501	Y261*	probably null	Het
Supt6	G	A	11: 78,208,167	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,326,455		probably benign	Het
Telo2	A	G	17: 25,110,818	V240A	probably benign	Het
Trhr	C	T	15: 44,229,242	L292F	probably damaging	Het
Trps1	G	A	15: 50,831,730	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429		probably benign	Het
Yeats2	T	C	16: 20,213,401		probably benign	Het
Zbtb39	G	A	10: 127,742,975	E473K	probably benign	Het
Zfp235	T	A	7: 24,140,962	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,053,064	P141Q	possibly 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
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
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
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
R8722:Cog5	UTSW	12	31919704	missense	possibly damaging	0.82
R8781:Cog5	UTSW	12	31833250	missense	probably damaging	1.00
R8911:Cog5	UTSW	12	31833239	missense	probably damaging	1.00
R8979:Cog5	UTSW	12	31790895	missense	probably benign	0.00
R9153:Cog5	UTSW	12	31660811	missense	possibly damaging	0.87
X0062:Cog5	UTSW	12	31685692	missense	probably benign	0.01
Z1177:Cog5	UTSW	12	31801985	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGGTGTTCAGTTATGAAGCATGC -3'
(R):5'- ATTGAACCCTAATCACTAGACTGG -3'

Sequencing Primer
(F):5'- TGAAGCATGCTTGTAAATGTGC -3'
(R):5'- CCCTAATCACTAGACTGGTTTGAGG -3'

Posted On

2014-10-01