Mutagenetix > Incidental Mutation

Incidental Mutation 'R0492:Cog5'

42573

Institutional Source

Beutler Lab

Gene Symbol

Cog5

Ensembl Gene

ENSMUSG00000035933

Gene Name

component of oligomeric golgi complex 5

Synonyms

5430405C01Rik, GOLTC1, GTC90

MMRRC Submission

038690-MU

Accession Numbers

Ensembl: ENSMUST00000036862; MGI: 2145130

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0492 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31654869-31937630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31869461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 540 (T540A)

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

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

AlphaFold

Q8C0L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036862
AA Change: T540A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: T540A

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

0.8362

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

99% (99/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	T	5: 24,554,628 (GRCm38)	L48Q	probably damaging	Het
Adgrb2	C	G	4: 130,007,831 (GRCm38)	P416R	probably damaging	Het
Adgre1	A	G	17: 57,402,742 (GRCm38)	D133G	unknown	Het
AI314180	A	G	4: 58,864,418 (GRCm38)	W288R	probably damaging	Het
Alpl	A	C	4: 137,749,576 (GRCm38)		probably null	Het
Ankrd65	T	C	4: 155,790,676 (GRCm38)		probably benign	Het
Baalc	A	T	15: 38,934,085 (GRCm38)		probably benign	Het
Bpifb5	A	G	2: 154,228,900 (GRCm38)	T204A	probably benign	Het
Bud31	A	G	5: 145,146,455 (GRCm38)	Y77C	probably damaging	Het
Capsl	A	G	15: 9,461,844 (GRCm38)		probably benign	Het
Ccna1	A	G	3: 55,048,583 (GRCm38)	V116A	probably damaging	Het
Cdc42bpa	C	A	1: 180,101,190 (GRCm38)	H723N	probably benign	Het
Cfap161	T	C	7: 83,794,037 (GRCm38)	I40V	possibly damaging	Het
CK137956	C	T	4: 127,951,300 (GRCm38)	V217I	probably benign	Het
Cps1	T	C	1: 67,157,836 (GRCm38)	W349R	probably damaging	Het
Crispld2	G	T	8: 120,026,067 (GRCm38)	V285L	probably benign	Het
Crtc2	T	A	3: 90,263,497 (GRCm38)	F626I	probably damaging	Het
Daam1	G	A	12: 71,944,380 (GRCm38)	R256H	unknown	Het
Dhx38	G	T	8: 109,561,944 (GRCm38)		probably benign	Het
Dok4	G	A	8: 94,865,136 (GRCm38)	A324V	probably benign	Het
Dscam	T	C	16: 96,825,782 (GRCm38)		probably null	Het
Dusp16	A	T	6: 134,718,402 (GRCm38)	S489T	probably benign	Het
Erbin	A	T	13: 103,834,358 (GRCm38)	Y917N	probably damaging	Het
F13b	A	T	1: 139,522,559 (GRCm38)		probably null	Het
Fam26f	G	A	10: 34,127,651 (GRCm38)	R87*	probably null	Het
Fdx1	C	A	9: 51,963,425 (GRCm38)	A15S	probably benign	Het
Ffar4	A	T	19: 38,097,182 (GRCm38)	Q19L	probably benign	Het
Folh1	A	C	7: 86,746,192 (GRCm38)	V344G	probably damaging	Het
Fscb	T	A	12: 64,473,518 (GRCm38)	E391D	possibly damaging	Het
Gigyf2	G	A	1: 87,440,846 (GRCm38)	G1083R	probably damaging	Het
Gm14403	C	A	2: 177,508,566 (GRCm38)	H102N	probably benign	Het
Gm4847	A	G	1: 166,630,392 (GRCm38)	F464S	probably damaging	Het
Gpam	A	T	19: 55,096,179 (GRCm38)	M56K	possibly damaging	Het
Gpr165	T	A	X: 96,717,172 (GRCm38)	F352I	probably damaging	Het
Grik2	T	G	10: 49,101,164 (GRCm38)	I891L	probably damaging	Het
Gsr	T	C	8: 33,681,575 (GRCm38)		probably benign	Het
Hhla1	A	G	15: 65,936,291 (GRCm38)	F302L	probably benign	Het
Impg1	T	C	9: 80,345,308 (GRCm38)	D453G	possibly damaging	Het
Inpp5d	T	A	1: 87,698,150 (GRCm38)	V495E	possibly damaging	Het
Iqce	A	T	5: 140,675,235 (GRCm38)	L450H	probably damaging	Het
Itfg2	A	G	6: 128,413,523 (GRCm38)		probably null	Het
Kif13a	A	G	13: 46,812,742 (GRCm38)	V400A	possibly damaging	Het
Kif7	T	C	7: 79,713,881 (GRCm38)	Y93C	probably damaging	Het
Krt33a	A	G	11: 100,016,083 (GRCm38)	V22A	probably benign	Het
Lct	T	C	1: 128,300,582 (GRCm38)	D1058G	probably damaging	Het
Lrp6	G	T	6: 134,480,518 (GRCm38)	D774E	possibly damaging	Het
Lrrc9	T	A	12: 72,478,763 (GRCm38)	S828R	possibly damaging	Het
Ly75	A	G	2: 60,308,276 (GRCm38)	W1416R	probably damaging	Het
Mdh2	T	C	5: 135,790,150 (GRCm38)	I320T	possibly damaging	Het
Med13l	T	A	5: 118,738,495 (GRCm38)	V912E	probably damaging	Het
Mgarp	T	C	3: 51,389,035 (GRCm38)	D182G	possibly damaging	Het
Mllt10	T	C	2: 18,146,887 (GRCm38)		probably benign	Het
Mmp28	G	A	11: 83,443,803 (GRCm38)	A375V	probably damaging	Het
Mrps23	T	A	11: 88,210,685 (GRCm38)	H133Q	probably benign	Het
Msh6	T	C	17: 87,975,251 (GRCm38)	S35P	probably benign	Het
Myo3a	A	G	2: 22,323,636 (GRCm38)	D347G	possibly damaging	Het
Npc1l1	T	C	11: 6,223,040 (GRCm38)	K800E	possibly damaging	Het
Olfr1034	T	C	2: 86,046,587 (GRCm38)	V35A	probably benign	Het
Olfr1034	T	C	2: 86,046,934 (GRCm38)	F151L	possibly damaging	Het
Olfr1086	G	A	2: 86,676,490 (GRCm38)	P281L	probably damaging	Het
Olfr152	T	G	2: 87,782,822 (GRCm38)	I94S	probably damaging	Het
Olfr414	T	A	1: 174,430,563 (GRCm38)	I45N	possibly damaging	Het
Olfr632	T	C	7: 103,937,764 (GRCm38)	I128T	probably benign	Het
Olfr695	A	T	7: 106,873,877 (GRCm38)	Y123N	probably damaging	Het
Osmr	A	C	15: 6,824,518 (GRCm38)	W570G	probably damaging	Het
Otol1	A	T	3: 70,027,784 (GRCm38)	I370F	probably damaging	Het
Pank2	A	G	2: 131,280,260 (GRCm38)	Y235C	probably damaging	Het
Pias2	T	C	18: 77,105,885 (GRCm38)	S187P	probably damaging	Het
Pkhd1l1	A	G	15: 44,519,690 (GRCm38)	N1115S	probably benign	Het
Pld1	G	T	3: 28,109,817 (GRCm38)	A800S	probably damaging	Het
Prex2	T	C	1: 11,186,633 (GRCm38)		probably benign	Het
Ptpn3	T	C	4: 57,194,304 (GRCm38)	Q908R	probably benign	Het
Rab3gap2	T	A	1: 185,252,392 (GRCm38)		probably benign	Het
Rbm24	A	T	13: 46,420,350 (GRCm38)	N82Y	probably damaging	Het
Rpl27	T	C	11: 101,445,255 (GRCm38)	V47A	possibly damaging	Het
Serpina1f	A	G	12: 103,693,567 (GRCm38)	V152A	possibly damaging	Het
Serpina5	A	G	12: 104,102,133 (GRCm38)	Y151C	probably damaging	Het
Serpinb7	A	G	1: 107,452,007 (GRCm38)	*381W	probably null	Het
Sh2b2	A	G	5: 136,232,263 (GRCm38)	F33S	probably damaging	Het
Slc22a2	A	C	17: 12,615,272 (GRCm38)	I476L	probably benign	Het
Slc6a12	A	T	6: 121,355,372 (GRCm38)	I222F	probably benign	Het
Smim26	G	A	2: 144,595,113 (GRCm38)	D61N	probably damaging	Het
Soat1	A	T	1: 156,441,354 (GRCm38)	Y209N	probably benign	Het
Sorl1	T	C	9: 41,991,371 (GRCm38)	H1630R	probably null	Het
Sptlc2	A	T	12: 87,346,806 (GRCm38)		probably null	Het
Strn3	G	A	12: 51,610,404 (GRCm38)	T642I	probably damaging	Het
Syce1l	T	A	8: 113,654,068 (GRCm38)	D137E	possibly damaging	Het
Syne2	T	C	12: 75,982,063 (GRCm38)		probably null	Het
Tcf25	C	A	8: 123,381,464 (GRCm38)	P86Q	probably benign	Het
Tmem19	A	T	10: 115,361,810 (GRCm38)	Y43*	probably null	Het
Tmem30b	T	C	12: 73,546,168 (GRCm38)	N58D	probably benign	Het
Tnn	A	C	1: 160,120,757 (GRCm38)	I795M	probably damaging	Het
Tnpo1	A	G	13: 98,855,446 (GRCm38)	Y641H	probably damaging	Het
Tra2a	A	T	6: 49,250,955 (GRCm38)		probably benign	Het
Trappc8	A	T	18: 20,866,186 (GRCm38)	F295I	probably benign	Het
Vmn2r101	T	A	17: 19,588,983 (GRCm38)	W125R	probably damaging	Het
Vps8	C	A	16: 21,442,357 (GRCm38)	F82L	probably damaging	Het
Ythdf2	A	T	4: 132,204,468 (GRCm38)	S460R	probably damaging	Het

Other mutations in Cog5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cog5	APN	12	31,685,704 (GRCm38)	missense	probably damaging	1.00
IGL00495:Cog5	APN	12	31,837,309 (GRCm38)	missense	probably benign	0.06
IGL00763:Cog5	APN	12	31,665,532 (GRCm38)	splice site	probably benign
IGL00789:Cog5	APN	12	31,760,952 (GRCm38)	missense	possibly damaging	0.95
IGL01288:Cog5	APN	12	31,886,206 (GRCm38)	missense	probably benign	0.13
IGL01315:Cog5	APN	12	31,760,986 (GRCm38)	splice site	probably benign
IGL01396:Cog5	APN	12	31,894,096 (GRCm38)	missense	probably benign	0.01
IGL02468:Cog5	APN	12	31,837,358 (GRCm38)	critical splice donor site	probably null
IGL03030:Cog5	APN	12	31,790,922 (GRCm38)	missense	probably damaging	0.99
IGL03346:Cog5	APN	12	31,894,038 (GRCm38)	missense	possibly damaging	0.88
R0201:Cog5	UTSW	12	31,839,841 (GRCm38)	missense	probably damaging	0.99
R0356:Cog5	UTSW	12	31,837,181 (GRCm38)	splice site	probably benign
R0646:Cog5	UTSW	12	31,837,359 (GRCm38)	splice site	probably benign
R0971:Cog5	UTSW	12	31,919,678 (GRCm38)	missense	probably benign	0.11
R1158:Cog5	UTSW	12	31,870,057 (GRCm38)	splice site	probably benign
R1997:Cog5	UTSW	12	31,660,849 (GRCm38)	missense	possibly damaging	0.66
R2167:Cog5	UTSW	12	31,837,289 (GRCm38)	missense	probably damaging	0.99
R4414:Cog5	UTSW	12	31,660,854 (GRCm38)	nonsense	probably null
R4755:Cog5	UTSW	12	31,869,406 (GRCm38)	splice site	probably null
R4836:Cog5	UTSW	12	31,919,733 (GRCm38)	missense	probably benign	0.07
R5017:Cog5	UTSW	12	31,920,605 (GRCm38)	missense	probably benign	0.29
R5256:Cog5	UTSW	12	31,886,205 (GRCm38)	missense	probably benign
R5986:Cog5	UTSW	12	31,660,717 (GRCm38)	missense	probably benign	0.03
R6131:Cog5	UTSW	12	31,886,221 (GRCm38)	missense	possibly damaging	0.47
R6885:Cog5	UTSW	12	31,894,199 (GRCm38)	missense	probably damaging	1.00
R7056:Cog5	UTSW	12	31,665,469 (GRCm38)	missense	possibly damaging	0.65
R7177:Cog5	UTSW	12	31,760,889 (GRCm38)	missense	probably damaging	1.00
R7182:Cog5	UTSW	12	31,685,708 (GRCm38)	missense	probably damaging	1.00
R7418:Cog5	UTSW	12	31,833,241 (GRCm38)	missense	probably damaging	1.00
R7445:Cog5	UTSW	12	31,919,672 (GRCm38)	missense	possibly damaging	0.64
R7585:Cog5	UTSW	12	31,760,889 (GRCm38)	missense	probably damaging	1.00
R8332:Cog5	UTSW	12	31,833,223 (GRCm38)	nonsense	probably null
R8722:Cog5	UTSW	12	31,919,704 (GRCm38)	missense	possibly damaging	0.82
R8781:Cog5	UTSW	12	31,833,250 (GRCm38)	missense	probably damaging	1.00
R8911:Cog5	UTSW	12	31,833,239 (GRCm38)	missense	probably damaging	1.00
R8979:Cog5	UTSW	12	31,790,895 (GRCm38)	missense	probably benign	0.00
R9153:Cog5	UTSW	12	31,660,811 (GRCm38)	missense	possibly damaging	0.87
X0062:Cog5	UTSW	12	31,685,692 (GRCm38)	missense	probably benign	0.01
Z1177:Cog5	UTSW	12	31,801,985 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGATTTGTCTTGTGCCTGAAGCCC -3'
(R):5'- TGAAGGAAATGGAATGTGCAGCCTC -3'

Sequencing Primer
(F):5'- GCCCAACGCTATATTTAATGTGACC -3'
(R):5'- tggcctcccaaagcctc -3'

Posted On

2013-05-23