Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Cog7'

62614

Institutional Source

Beutler Lab

Gene Symbol

Cog7

Ensembl Gene

ENSMUSG00000034951

Gene Name

component of oligomeric golgi complex 7

Synonyms

5630400E24Rik

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0658 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121522059-121580940 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 121555363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146193 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057576

SMART Domains

Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148634

Predicted Effect

probably benign
Transcript: ENSMUST00000205438

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Cog7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Cog7	APN	7	121,543,000 (GRCm39)	critical splice donor site	probably null
IGL02094:Cog7	APN	7	121,562,470 (GRCm39)	missense	probably benign	0.21
IGL02113:Cog7	APN	7	121,524,703 (GRCm39)	missense	probably damaging	1.00
IGL02151:Cog7	APN	7	121,543,031 (GRCm39)	missense	probably damaging	0.97
IGL02365:Cog7	APN	7	121,576,959 (GRCm39)	missense	possibly damaging	0.56
IGL02398:Cog7	APN	7	121,563,432 (GRCm39)	missense	probably damaging	1.00
IGL02732:Cog7	APN	7	121,522,590 (GRCm39)	missense	probably benign	0.05
IGL02887:Cog7	APN	7	121,543,067 (GRCm39)	missense	possibly damaging	0.83
R0143:Cog7	UTSW	7	121,550,387 (GRCm39)	missense	probably damaging	1.00
R0446:Cog7	UTSW	7	121,536,295 (GRCm39)	missense	probably benign
R0521:Cog7	UTSW	7	121,540,392 (GRCm39)	critical splice donor site	probably null
R0526:Cog7	UTSW	7	121,562,494 (GRCm39)	splice site	probably null
R0782:Cog7	UTSW	7	121,543,020 (GRCm39)	missense	possibly damaging	0.86
R1029:Cog7	UTSW	7	121,529,752 (GRCm39)	critical splice donor site	probably null
R1419:Cog7	UTSW	7	121,555,215 (GRCm39)	missense	probably damaging	0.99
R1521:Cog7	UTSW	7	121,529,797 (GRCm39)	missense	possibly damaging	0.57
R1639:Cog7	UTSW	7	121,580,642 (GRCm39)	missense	probably damaging	1.00
R2023:Cog7	UTSW	7	121,536,193 (GRCm39)	missense	probably damaging	0.99
R3896:Cog7	UTSW	7	121,540,392 (GRCm39)	critical splice donor site	probably benign
R4240:Cog7	UTSW	7	121,524,707 (GRCm39)	missense	possibly damaging	0.50
R4731:Cog7	UTSW	7	121,563,467 (GRCm39)	missense	probably benign	0.00
R4732:Cog7	UTSW	7	121,563,467 (GRCm39)	missense	probably benign	0.00
R4733:Cog7	UTSW	7	121,563,467 (GRCm39)	missense	probably benign	0.00
R4838:Cog7	UTSW	7	121,570,604 (GRCm39)	missense	probably damaging	1.00
R5001:Cog7	UTSW	7	121,549,109 (GRCm39)	missense	probably damaging	1.00
R5237:Cog7	UTSW	7	121,550,444 (GRCm39)	missense	probably damaging	1.00
R5353:Cog7	UTSW	7	121,540,470 (GRCm39)	splice site	probably null
R5609:Cog7	UTSW	7	121,524,683 (GRCm39)	missense	probably benign	0.12
R5964:Cog7	UTSW	7	121,555,252 (GRCm39)	missense	probably damaging	0.99
R6544:Cog7	UTSW	7	121,534,966 (GRCm39)	missense	probably damaging	0.99
R6784:Cog7	UTSW	7	121,563,516 (GRCm39)	splice site	probably null
R7110:Cog7	UTSW	7	121,534,999 (GRCm39)	missense	probably damaging	0.98
R7212:Cog7	UTSW	7	121,576,537 (GRCm39)	missense	probably damaging	0.98
R7304:Cog7	UTSW	7	121,536,362 (GRCm39)	missense	probably benign	0.04
R8185:Cog7	UTSW	7	121,576,969 (GRCm39)	missense	probably damaging	1.00
R8207:Cog7	UTSW	7	121,576,515 (GRCm39)	missense	possibly damaging	0.70
R8838:Cog7	UTSW	7	121,549,106 (GRCm39)	missense	probably damaging	0.98
R9116:Cog7	UTSW	7	121,570,561 (GRCm39)	missense	probably damaging	0.99
R9582:Cog7	UTSW	7	121,536,200 (GRCm39)	missense	probably benign	0.00
R9752:Cog7	UTSW	7	121,580,639 (GRCm39)	critical splice donor site	probably null
X0066:Cog7	UTSW	7	121,576,847 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGTCGTAAAACTCCAGCAGTC -3'
(R):5'- TCACCTGAGTCCTCACTGATGACC -3'

Sequencing Primer
(F):5'- TAAAACTCCAGCAGTCTGGTG -3'
(R):5'- AGCGATAGAAGTGCCTTTCC -3'

Posted On

2013-07-30