Mutagenetix > Incidental Mutation

Incidental Mutation 'R7585:Cog5'

587080

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 #

R7585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31760889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 194 (I194K)

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

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

AlphaFold

Q8C0L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036862
AA Change: I194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: I194K

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: 100.0%
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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,953,353	T64A	probably benign	Het
A930009A15Rik	T	A	10: 115,578,325	V52D	unknown	Het
Acacb	A	G	5: 114,246,012	I2201V	probably damaging	Het
Aco2	A	C	15: 81,872,484		probably benign	Het
Acod1	C	T	14: 103,054,741	Q234*	probably null	Het
Actr6	T	C	10: 89,725,796	S163G	probably benign	Het
Agmat	T	C	4: 141,749,745	V154A	probably benign	Het
Agrn	T	C	4: 156,170,674	N1584S	probably benign	Het
Alg6	A	T	4: 99,738,134	S60C	probably damaging	Het
Ap5s1	T	C	2: 131,212,562	F98L	probably damaging	Het
Atp6v1f	G	A	6: 29,467,928	V38I	possibly damaging	Het
B3gnt3	T	C	8: 71,693,328	T186A	probably damaging	Het
Brpf1	T	C	6: 113,315,046	V351A	possibly damaging	Het
Cacna1g	A	G	11: 94,473,542	S26P	probably benign	Het
Camta1	G	A	4: 151,144,830	S515L	probably damaging	Het
Ccdc122	C	A	14: 77,091,699	A64E	probably damaging	Het
Ccdc89	C	A	7: 90,427,302	T240K	possibly damaging	Het
Cercam	T	C	2: 29,881,731	L521P	probably damaging	Het
Cfb	T	C	17: 34,857,761	N561S	probably benign	Het
Clk3	T	C	9: 57,761,836	E159G	probably damaging	Het
Cntf	A	T	19: 12,764,223	L91*	probably null	Het
Cntn4	T	A	6: 106,489,611	I158N	probably damaging	Het
Col22a1	T	A	15: 71,892,205	D66V	probably damaging	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Csmd3	T	C	15: 48,622,075	T145A	possibly damaging	Het
D130043K22Rik	A	G	13: 24,885,585	I876V	probably benign	Het
Dlec1	T	C	9: 119,142,751	S1335P	probably benign	Het
Dnah5	A	T	15: 28,401,868	T3392S	probably benign	Het
Dnal1	A	G	12: 84,124,493	K21E	probably benign	Het
Dspp	T	C	5: 104,175,525	V178A	possibly damaging	Het
Dst	A	G	1: 34,114,015	D119G	possibly damaging	Het
Dyrk4	T	A	6: 126,890,044	I342F	probably damaging	Het
Eif3b	A	G	5: 140,440,002	D649G	probably damaging	Het
Exoc7	T	C	11: 116,300,298	D259G	probably benign	Het
Fancm	T	C	12: 65,106,247	V1159A	possibly damaging	Het
Fat3	T	C	9: 15,998,262	D2148G	probably benign	Het
Fdps	C	A	3: 89,093,806	R300L	probably benign	Het
Gfm2	T	C	13: 97,179,032	L736P	probably benign	Het
Gm11397	G	T	13: 33,404,316	D295Y	probably benign	Het
Gm5538	C	A	3: 59,743,722	D88E	possibly damaging	Het
Grin2b	T	A	6: 135,779,303	T475S	probably damaging	Het
H2-M3	T	G	17: 37,270,708	L87R	probably damaging	Het
Hao1	T	A	2: 134,501,156	I272F	probably damaging	Het
Hapln2	C	T	3: 88,022,673	G299S	probably damaging	Het
Hdac3	A	T	18: 37,945,355	I154N	probably damaging	Het
Herc1	A	G	9: 66,445,547	D2105G	probably damaging	Het
Kcna2	T	C	3: 107,105,342	F413S	probably damaging	Het
Kctd13	A	G	7: 126,929,286	T78A	possibly damaging	Het
Kif20a	A	G	18: 34,625,538	D20G	probably benign	Het
Kif26b	A	T	1: 178,916,496	I1386F	probably benign	Het
Klc4	T	A	17: 46,631,884	M585L	probably benign	Het
Lrp4	A	G	2: 91,492,588	Y1139C	probably damaging	Het
Lrp5	A	T	19: 3,604,094	I1111N	possibly damaging	Het
Lrriq1	A	T	10: 103,214,946	D648E	possibly damaging	Het
Mfsd7a	T	C	5: 108,448,819	T16A	probably benign	Het
Mmp2	G	A	8: 92,836,936	G346D	probably damaging	Het
Mrgpra4	T	A	7: 47,981,629	I75L	probably benign	Het
Muc4	T	A	16: 32,765,702	V537D		Het
Myh2	T	A	11: 67,179,411		probably null	Het
Myrf	T	C	19: 10,216,727	T487A	probably damaging	Het
Nalcn	A	T	14: 123,515,638	L312H	probably damaging	Het
Nop14	G	A	5: 34,644,780	P560L	probably damaging	Het
Nufip1	C	G	14: 76,110,987	P19A	probably benign	Het
Olfr1263	A	T	2: 90,015,049	I40F	probably damaging	Het
Olfr1274-ps	T	A	2: 90,401,023	Y121N	probably damaging	Het
Olfr1415	A	G	1: 92,491,320	V145A	probably benign	Het
Olfr293	T	C	7: 86,664,672	*337Q	probably null	Het
Olfr503	C	A	7: 108,545,391	P289T	probably damaging	Het
Olfr611	C	A	7: 103,517,959	V142L	possibly damaging	Het
Olfr633	A	G	7: 103,947,400	N278S	probably benign	Het
Olfr869	T	C	9: 20,129,011			Het
Oosp3	G	T	19: 11,700,958	M99I	probably benign	Het
Panx2	A	G	15: 89,067,966	K212R	probably damaging	Het
Paxip1	A	C	5: 27,772,004	H353Q	unknown	Het
Pbx4	C	A	8: 69,832,825	D39E	probably damaging	Het
Phc2	G	A	4: 128,711,139	A223T	probably benign	Het
Plcl1	A	G	1: 55,406,449	D21G	probably benign	Het
Plec	G	A	15: 76,173,432	R4102W	probably damaging	Het
Plekhh2	A	G	17: 84,577,180	Y774C	probably benign	Het
Polr2a	A	T	11: 69,740,002	Y1197N	probably damaging	Het
Psmg4	A	T	13: 34,163,212	H46L	probably benign	Het
Ptprk	A	G	10: 28,560,088	Y815C	probably damaging	Het
Qrich2	T	C	11: 116,455,721	I1426V	probably benign	Het
Rbm43	T	C	2: 51,926,751	D68G	probably benign	Het
Rgs6	T	C	12: 83,106,870	S360P	probably damaging	Het
Rp1l1	T	G	14: 64,030,139	L1058R	probably damaging	Het
Rreb1	A	G	13: 37,893,898	S29G	probably benign	Het
Scube1	C	A	15: 83,638,787	R284L	possibly damaging	Het
Slc13a3	T	C	2: 165,430,322	Q267R	probably benign	Het
Slc5a1	A	T	5: 33,160,944	N647I	probably damaging	Het
Sphk2	A	T	7: 45,711,582	S333T	probably benign	Het
Sptan1	A	G	2: 30,000,056	D1050G	probably benign	Het
Tdo2	G	T	3: 81,962,758	A269E	probably damaging	Het
Tnc	A	T	4: 64,020,411	C64S	probably damaging	Het
Trim47	T	A	11: 116,107,557	E360D	probably damaging	Het
Trp53i13	T	A	11: 77,508,303	T374S	possibly damaging	Het
Try5	A	G	6: 41,311,814	L157P	probably benign	Het
Ttn	A	T	2: 76,747,832	V24239D	probably damaging	Het
Ttn	T	C	2: 76,943,323	Y2318C	unknown	Het
Txn1	T	C	4: 57,945,199	D68G	possibly damaging	Het
Upf3a	A	G	8: 13,787,418	D121G	probably damaging	Het
Vmn2r114	T	C	17: 23,291,265	Y747C	probably damaging	Het
Vmn2r68	A	G	7: 85,232,379	W498R	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Zp2	A	T	7: 120,133,944	F591L	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
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
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'- CCAGCATTTGGGAGACAGAG -3'
(R):5'- TCCTCCATGATAAAACTCACCTATG -3'

Sequencing Primer
(F):5'- GAGTTCCAGGACTGTCTGCTC -3'
(R):5'- CACCTATGTATGACCGTGAATGC -3'

Posted On

2019-10-24