Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:Cog5'

683656

Institutional Source

Beutler Lab

Gene Symbol

Cog5

Ensembl Gene

ENSMUSG00000035933

Gene Name

component of oligomeric golgi complex 5

Synonyms

5430405C01Rik, GOLTC1, GTC90

MMRRC Submission

Accession Numbers

Ensembl: ENSMUST00000036862; MGI: 2145130

Is this an essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R8979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31790895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 240 (T240A)

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

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

AlphaFold

Q8C0L8

Predicted Effect

probably benign
Transcript: ENSMUST00000036862
AA Change: T240A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: T240A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 60,025,124	R353S	probably damaging	Het
Ablim3	C	T	18: 61,849,326	V183I	probably benign	Het
Adgrb3	T	A	1: 25,488,034	Q607L	probably benign	Het
Adgrl1	A	G	8: 83,938,386	D1234G	probably benign	Het
AI481877	T	C	4: 59,047,276	T1448A	possibly damaging	Het
Alms1	A	G	6: 85,621,027	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,339,548	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,498,925	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,963,139	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,948	Y380H	probably benign	Het
Ciapin1	A	T	8: 94,823,125	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,403,574	E151G	probably benign	Het
Cngb1	G	A	8: 95,278,285		probably benign	Het
Cntln	T	A	4: 85,130,673	V240E	probably damaging	Het
Col5a3	G	A	9: 20,775,301	P1343S	unknown	Het
Cspp1	T	A	1: 10,064,405	S127T	probably benign	Het
Dnah9	T	G	11: 66,005,152	M2466L	probably benign	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,184,129	W247R	probably damaging	Het
Gbp4	G	A	5: 105,119,382	T557M	probably benign	Het
Gm13762	C	T	2: 88,973,829	V21I	probably benign	Het
Gm7102	A	G	19: 61,175,731	Y89H	probably damaging	Het
Ide	G	A	19: 37,325,312	A133V		Het
Il2rb	C	A	15: 78,491,852		probably benign	Het
Itgb1	A	G	8: 128,722,470	E519G	probably benign	Het
Kifc1	A	G	17: 33,883,254	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,846,905	F473S	probably benign	Het
Llgl1	C	T	11: 60,710,303	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,503,007	V531L	possibly damaging	Het
Mid1	C	G	X: 169,985,007	P384A	probably benign	Het
Mid1	G	A	X: 169,985,013	A386T	probably benign	Het
Mms22l	C	T	4: 24,580,070	L760F	probably benign	Het
Mst1r	C	T	9: 107,915,279	R951C	probably damaging	Het
Naalad2	G	A	9: 18,330,850	T586M	probably damaging	Het
Oxct2b	A	G	4: 123,117,376	N363S	probably benign	Het
Padi6	T	G	4: 140,739,163	N145T	probably benign	Het
Plcl2	T	A	17: 50,640,117	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,551,092	S435P	probably damaging	Het
Prkacb	C	A	3: 146,812,656	G10C	probably benign	Het
Psg29	A	T	7: 17,203,619		probably benign	Het
Ptpn4	T	C	1: 119,743,390	T213A	probably damaging	Het
Ptpro	A	G	6: 137,368,142	I49V	probably benign	Het
Rassf1	A	G	9: 107,551,805	D70G	probably benign	Het
Rbm24	A	T	13: 46,419,055	T9S	probably damaging	Het
Rp1	T	C	1: 4,148,714	T948A	unknown	Het
Ryr2	A	T	13: 11,595,038	C4301S	probably benign	Het
S100pbp	T	C	4: 129,182,340	D64G	probably damaging	Het
Samd3	A	G	10: 26,244,530	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,441,852	K65*	probably null	Het
Slc51b	T	C	9: 65,412,928	N86D	probably benign	Het
Slc6a3	G	A	13: 73,567,601	V452I	probably benign	Het
Sobp	A	G	10: 43,020,980		probably null	Het
Spats2	T	C	15: 99,212,242	S507P	possibly damaging	Het
Spns3	C	T	11: 72,529,590	A357T	probably damaging	Het
Suox	A	T	10: 128,671,498	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,170,982	S1106C	probably benign	Het
Tbx1	T	C	16: 18,587,995	D9G	unknown	Het
Tcaf2	A	T	6: 42,624,470	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,616,279	T73A	probably benign	Het
Tigd3	G	A	19: 5,891,825	P426S	probably benign	Het
Tmem233	T	A	5: 116,083,201		probably benign	Het
Tnfrsf11a	A	G	1: 105,827,100	D299G	possibly damaging	Het
Trim32	T	C	4: 65,613,455	V83A	possibly damaging	Het
Unc13a	A	T	8: 71,660,481	M242K	probably benign	Het
Vat1	C	T	11: 101,462,215	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,754,467	V186D	possibly damaging	Het
Wdfy3	A	G	5: 101,948,898	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,875,177	T1510I	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
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
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
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'- AAAACTTGTCCCAAACTGTCTTCTC -3'
(R):5'- AACGGTGCCACAGCTTAGAC -3'

Sequencing Primer
(F):5'- GTCCCAAACTGTCTTCTCCCTTAC -3'
(R):5'- CCACAGCTTAGACATCTTTTCTAGAG -3'

Posted On

2021-10-11