Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Cog7'

22443

Institutional Source

Beutler Lab

Gene Symbol

Cog7

Ensembl Gene

ENSMUSG00000034951

Gene Name

component of oligomeric golgi complex 7

Synonyms

5630400E24Rik

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

121522059-121580940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121550387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 379 (L379Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146193 (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: L379Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058990
Gene: ENSMUSG00000034951
AA Change: L379Q

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: L379Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1559

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	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
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
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'- CTGACAGAGATGTCCTTGAGCAACC -3'
(R):5'- TGTGCCAGCAGAATACCTTTCCC -3'

Sequencing Primer
(F):5'- AAGCACACGGGTAGCTTC -3'
(R):5'- CAGCAGAATACCTTTCCCTATTG -3'

Posted On

2013-04-16