Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Cog7'

551447

Institutional Source

Beutler Lab

Gene Symbol

Cog7

Ensembl Gene

ENSMUSG00000034951

Gene Name

component of oligomeric golgi complex 7

Synonyms

5630400E24Rik

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121522059-121580940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121534999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 562 (N562S)

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: N562S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: N562S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205438
AA Change: N562S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	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
R0658:Cog7	UTSW	7	121,555,363 (GRCm39)	splice site	probably benign
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
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'- TGACCAAGTAACTCTTCTGCC -3'
(R):5'- CTTGTGAATCTGTCTGCTAGCC -3'

Sequencing Primer
(F):5'- TGCATCTCATGGCAGGCAG -3'
(R):5'- AGCCTTTTCCCAGGTCAGG -3'

Posted On

2019-05-15