Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Cog7'

471949

Institutional Source

Beutler Lab

Gene Symbol

Cog7

Ensembl Gene

ENSMUSG00000034951

Gene Name

component of oligomeric golgi complex 7

Synonyms

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

121879363-121981711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121956029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 304 (R304G)

Ref Sequence

ENSEMBL: ENSMUSP00000058990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057576] [ENSMUST00000205438]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057576
AA Change: R304G

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

SMART Domains

Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: R304G

Domain	Start	End	E-Value	Type
Pfam:COG7	2	767	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148634

Predicted Effect

probably damaging
Transcript: ENSMUST00000205438
AA Change: R304G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.4879

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	possibly damaging	Het

Other mutations in Cog7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Cog7	APN	7	121943777	critical splice donor site	probably null
IGL02094:Cog7	APN	7	121963247	missense	probably benign	0.21
IGL02113:Cog7	APN	7	121925480	missense	probably damaging	1.00
IGL02151:Cog7	APN	7	121943808	missense	probably damaging	0.97
IGL02365:Cog7	APN	7	121977736	missense	possibly damaging	0.56
IGL02398:Cog7	APN	7	121964209	missense	probably damaging	1.00
IGL02732:Cog7	APN	7	121923367	missense	probably benign	0.05
IGL02887:Cog7	APN	7	121943844	missense	possibly damaging	0.83
R0143:Cog7	UTSW	7	121951164	missense	probably damaging	1.00
R0446:Cog7	UTSW	7	121937072	missense	probably benign
R0521:Cog7	UTSW	7	121941169	critical splice donor site	probably null
R0526:Cog7	UTSW	7	121963271	splice site	probably null
R0658:Cog7	UTSW	7	121956140	splice site	probably benign
R0782:Cog7	UTSW	7	121943797	missense	possibly damaging	0.86
R1029:Cog7	UTSW	7	121930529	critical splice donor site	probably null
R1419:Cog7	UTSW	7	121955992	missense	probably damaging	0.99
R1521:Cog7	UTSW	7	121930574	missense	possibly damaging	0.57
R1639:Cog7	UTSW	7	121981419	missense	probably damaging	1.00
R2023:Cog7	UTSW	7	121936970	missense	probably damaging	0.99
R3896:Cog7	UTSW	7	121941169	critical splice donor site	probably benign
R4240:Cog7	UTSW	7	121925484	missense	possibly damaging	0.50
R4731:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4732:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4733:Cog7	UTSW	7	121964244	missense	probably benign	0.00
R4838:Cog7	UTSW	7	121971381	missense	probably damaging	1.00
R5001:Cog7	UTSW	7	121949886	missense	probably damaging	1.00
R5237:Cog7	UTSW	7	121951221	missense	probably damaging	1.00
R5353:Cog7	UTSW	7	121941247	splice site	probably null
R5609:Cog7	UTSW	7	121925460	missense	probably benign	0.12
R6544:Cog7	UTSW	7	121935743	missense	probably damaging	0.99
R6784:Cog7	UTSW	7	121964293	splice site	probably null
R7110:Cog7	UTSW	7	121935776	missense	probably damaging	0.98
R7212:Cog7	UTSW	7	121977314	missense	probably damaging	0.98
R7304:Cog7	UTSW	7	121937139	missense	probably benign	0.04
R8185:Cog7	UTSW	7	121977746	missense	probably damaging	1.00
R8207:Cog7	UTSW	7	121977292	missense	possibly damaging	0.70
R8838:Cog7	UTSW	7	121949883	missense	probably damaging	0.98
R9116:Cog7	UTSW	7	121971338	missense	probably damaging	0.99
R9582:Cog7	UTSW	7	121936977	missense	probably benign	0.00
R9752:Cog7	UTSW	7	121981416	critical splice donor site	probably null
X0066:Cog7	UTSW	7	121977624	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGAGACACCGACTCTTTC -3'
(R):5'- TAGGGTCTGCCTTGGAACATC -3'

Sequencing Primer
(F):5'- TTCCCTTCCACAGTTACTAGAAACAG -3'
(R):5'- TCTGCCTTGGAACATCAGGAGAC -3'

Posted On

2017-03-31