Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Cog5'

577244

Institutional Source

Beutler Lab

Gene Symbol

Cog5

Ensembl Gene

ENSMUSG00000035933

Gene Name

component of oligomeric golgi complex 5

Synonyms

GTC90, GOLTC1, 5430405C01Rik

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31704868-31987629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31969671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 730 (S730R)

Ref Sequence

ENSEMBL: ENSMUSP00000044797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036862] [ENSMUST00000218428]

AlphaFold

Q8C0L8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036862
AA Change: S730R

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
AA Change: S730R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218428

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,962 (GRCm39)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,793,553 (GRCm39)	C29S	probably damaging	Het
Acsbg3	G	A	17: 57,189,973 (GRCm39)	R333Q	possibly damaging	Het
Ank3	A	G	10: 69,827,954 (GRCm39)	T2208A		Het
Ap4s1	T	C	12: 51,785,424 (GRCm39)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,764,364 (GRCm39)	R4C	probably benign	Het
Brd7	A	T	8: 89,088,336 (GRCm39)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 28,780,575 (GRCm39)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,228,748 (GRCm39)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,516,400 (GRCm39)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,369,170 (GRCm39)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,429,260 (GRCm39)	R126H	possibly damaging	Het
Col11a1	A	T	3: 113,987,578 (GRCm39)	E1374D	unknown	Het
Csmd1	A	G	8: 16,208,268 (GRCm39)	I1229T	possibly damaging	Het
Degs1l	A	G	1: 180,882,577 (GRCm39)	N113S	possibly damaging	Het
Dnajc30	T	C	5: 135,093,232 (GRCm39)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,533,865 (GRCm39)	T76M	unknown	Het
Ermap	G	A	4: 119,045,907 (GRCm39)	T42I	unknown	Het
Gpd1l	C	T	9: 114,749,742 (GRCm39)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,445,919 (GRCm39)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,744,286 (GRCm39)	D29G		Het
Ipo8	T	C	6: 148,691,315 (GRCm39)	D685G	probably benign	Het
Klra10	T	C	6: 130,252,819 (GRCm39)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,375,693 (GRCm39)	S82C	probably damaging	Het
Maip1	T	C	1: 57,446,190 (GRCm39)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Mei4	A	G	9: 81,772,292 (GRCm39)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,280,336 (GRCm39)	K741Q	probably benign	Het
Mtcl3	T	C	10: 29,072,999 (GRCm39)	S764P	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,382,888 (GRCm39)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm39)	M145K	probably damaging	Het
Nmur2	A	G	11: 55,923,766 (GRCm39)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,994,576 (GRCm39)	E164G	probably benign	Het
Or2ag1	A	G	7: 106,472,549 (GRCm39)	L301S	possibly damaging	Het
Or4c58	T	A	2: 89,674,616 (GRCm39)	T234S	probably damaging	Het
Or6c5b	A	T	10: 129,245,754 (GRCm39)	D173V	probably benign	Het
P3h2	T	A	16: 25,803,815 (GRCm39)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,190,644 (GRCm39)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,368,661 (GRCm39)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,283,801 (GRCm39)	D131G	probably benign	Het
Ppl	T	C	16: 4,906,932 (GRCm39)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,463,942 (GRCm39)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,135,222 (GRCm39)	N395K	probably benign	Het
Ptprq	A	T	10: 107,426,820 (GRCm39)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,304,227 (GRCm39)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,719,704 (GRCm39)	D778G	probably benign	Het
Rbm46	T	A	3: 82,771,517 (GRCm39)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,568,550 (GRCm39)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,608,528 (GRCm39)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,105,881 (GRCm39)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,204,734 (GRCm39)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,597,543 (GRCm39)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,445,526 (GRCm39)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,062,757 (GRCm39)	H81Q	probably damaging	Het
Stk16	T	C	1: 75,190,296 (GRCm39)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm39)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,502,471 (GRCm39)	A463T	probably benign	Het
Tmem117	T	C	15: 94,612,799 (GRCm39)	F112L	probably benign	Het
Tmem72	A	G	6: 116,675,291 (GRCm39)	I67T	probably benign	Het
Tnik	A	G	3: 28,718,058 (GRCm39)		probably null	Het
Trav14-2	A	G	14: 53,878,515 (GRCm39)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,598,276 (GRCm39)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,839,157 (GRCm39)	S278N	unknown	Het
Wdfy4	C	T	14: 32,792,575 (GRCm39)	W2157*	probably null	Het

Other mutations in Cog5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cog5	APN	12	31,735,703 (GRCm39)	missense	probably damaging	1.00
IGL00495:Cog5	APN	12	31,887,308 (GRCm39)	missense	probably benign	0.06
IGL00763:Cog5	APN	12	31,715,531 (GRCm39)	splice site	probably benign
IGL00789:Cog5	APN	12	31,810,951 (GRCm39)	missense	possibly damaging	0.95
IGL01288:Cog5	APN	12	31,936,205 (GRCm39)	missense	probably benign	0.13
IGL01315:Cog5	APN	12	31,810,985 (GRCm39)	splice site	probably benign
IGL01396:Cog5	APN	12	31,944,095 (GRCm39)	missense	probably benign	0.01
IGL02468:Cog5	APN	12	31,887,357 (GRCm39)	critical splice donor site	probably null
IGL03030:Cog5	APN	12	31,840,921 (GRCm39)	missense	probably damaging	0.99
IGL03346:Cog5	APN	12	31,944,037 (GRCm39)	missense	possibly damaging	0.88
R0201:Cog5	UTSW	12	31,889,840 (GRCm39)	missense	probably damaging	0.99
R0356:Cog5	UTSW	12	31,887,180 (GRCm39)	splice site	probably benign
R0492:Cog5	UTSW	12	31,919,460 (GRCm39)	missense	probably damaging	1.00
R0646:Cog5	UTSW	12	31,887,358 (GRCm39)	splice site	probably benign
R0971:Cog5	UTSW	12	31,969,677 (GRCm39)	missense	probably benign	0.11
R1158:Cog5	UTSW	12	31,920,056 (GRCm39)	splice site	probably benign
R1997:Cog5	UTSW	12	31,710,848 (GRCm39)	missense	possibly damaging	0.66
R2167:Cog5	UTSW	12	31,887,288 (GRCm39)	missense	probably damaging	0.99
R4414:Cog5	UTSW	12	31,710,853 (GRCm39)	nonsense	probably null
R4755:Cog5	UTSW	12	31,919,405 (GRCm39)	splice site	probably null
R4836:Cog5	UTSW	12	31,969,732 (GRCm39)	missense	probably benign	0.07
R5017:Cog5	UTSW	12	31,970,604 (GRCm39)	missense	probably benign	0.29
R5256:Cog5	UTSW	12	31,936,204 (GRCm39)	missense	probably benign
R5986:Cog5	UTSW	12	31,710,716 (GRCm39)	missense	probably benign	0.03
R6131:Cog5	UTSW	12	31,936,220 (GRCm39)	missense	possibly damaging	0.47
R6885:Cog5	UTSW	12	31,944,198 (GRCm39)	missense	probably damaging	1.00
R7056:Cog5	UTSW	12	31,715,468 (GRCm39)	missense	possibly damaging	0.65
R7177:Cog5	UTSW	12	31,810,888 (GRCm39)	missense	probably damaging	1.00
R7182:Cog5	UTSW	12	31,735,707 (GRCm39)	missense	probably damaging	1.00
R7418:Cog5	UTSW	12	31,883,240 (GRCm39)	missense	probably damaging	1.00
R7585:Cog5	UTSW	12	31,810,888 (GRCm39)	missense	probably damaging	1.00
R8332:Cog5	UTSW	12	31,883,222 (GRCm39)	nonsense	probably null
R8722:Cog5	UTSW	12	31,969,703 (GRCm39)	missense	possibly damaging	0.82
R8781:Cog5	UTSW	12	31,883,249 (GRCm39)	missense	probably damaging	1.00
R8911:Cog5	UTSW	12	31,883,238 (GRCm39)	missense	probably damaging	1.00
R8979:Cog5	UTSW	12	31,840,894 (GRCm39)	missense	probably benign	0.00
R9153:Cog5	UTSW	12	31,710,810 (GRCm39)	missense	possibly damaging	0.87
X0062:Cog5	UTSW	12	31,735,691 (GRCm39)	missense	probably benign	0.01
Z1177:Cog5	UTSW	12	31,851,984 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGCTTCAAACACCTATCTAG -3'
(R):5'- ACTCACTAAAGCTGGAGGGAGC -3'

Sequencing Primer
(F):5'- CTGAGTTCCAGCATAGTCTACAGAG -3'
(R):5'- GAGCCAGCAGCCCACTC -3'

Posted On

2019-10-07