Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Cog8'

158579

Institutional Source

Beutler Lab

Gene Symbol

Cog8

Ensembl Gene

ENSMUSG00000031916

Gene Name

component of oligomeric golgi complex 8

Synonyms

C87832

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107775341-107783369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107779528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 250 (R250G)

Ref Sequence

ENSEMBL: ENSMUSP00000093173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000055316] [ENSMUST00000095517] [ENSMUST00000170962]

AlphaFold

Q9JJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034391
AA Change: R250G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: R250G

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034392

SMART Domains

Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917

Domain	Start	End	E-Value	Type
PUA	95	170	4.36e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055316

SMART Domains

Protein: ENSMUSP00000138676
Gene: ENSMUSG00000078931

Domain	Start	End	E-Value	Type
Pfam:Pep_deformylase	52	222	2.3e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095517
AA Change: R250G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: R250G

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122903

Predicted Effect

probably benign
Transcript: ENSMUST00000134772

Predicted Effect

probably benign
Transcript: ENSMUST00000170962

SMART Domains

Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917

Domain	Start	End	E-Value	Type
PDB:1T5Y\|A	1	133	7e-87	PDB
Blast:PUA	95	123	5e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212281

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(22) : Targeted, other(2) Gene trapped(20)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,888,683 (GRCm39)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,433,705 (GRCm39)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,811,972 (GRCm39)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,497,782 (GRCm39)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,350,381 (GRCm39)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,616,594 (GRCm39)	V149E	probably damaging	Het
Cd22	G	T	7: 30,572,595 (GRCm39)	P338Q	probably benign	Het
Cntln	G	T	4: 85,015,076 (GRCm39)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,012,768 (GRCm39)	N302S	probably benign	Het
Cracdl	A	T	1: 37,665,093 (GRCm39)	Y268*	probably null	Het
Creld2	T	C	15: 88,707,956 (GRCm39)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,372,574 (GRCm39)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,688 (GRCm39)		probably null	Het
Eml6	C	T	11: 29,974,459 (GRCm39)	V40I	probably damaging	Het
Epb42	C	T	2: 120,860,448 (GRCm39)		probably null	Het
Fcrla	A	G	1: 170,748,573 (GRCm39)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,378,635 (GRCm39)	Y40*	probably null	Het
Gdf7	A	T	12: 8,348,073 (GRCm39)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,675,156 (GRCm39)		probably null	Het
Gpam	T	A	19: 55,076,608 (GRCm39)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,822,255 (GRCm39)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,710,352 (GRCm39)	A134T	probably benign	Het
Kat6a	T	C	8: 23,428,668 (GRCm39)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,575,502 (GRCm39)	L542P	probably benign	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,499,064 (GRCm39)	D234G	probably benign	Het
Map3k19	A	C	1: 127,745,635 (GRCm39)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,677,330 (GRCm39)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,261,767 (GRCm39)	L61*	probably null	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,221,872 (GRCm39)	I199T	probably damaging	Het
Myh4	T	A	11: 67,139,287 (GRCm39)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,120,347 (GRCm39)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,807,971 (GRCm39)	V54D	probably damaging	Het
Nbea	A	G	3: 55,992,748 (GRCm39)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,680,998 (GRCm39)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,098,279 (GRCm39)	N1410K	possibly damaging	Het
Oca2	A	T	7: 55,971,269 (GRCm39)	T399S	probably damaging	Het
Or10al2	A	T	17: 37,983,816 (GRCm39)	K301*	probably null	Het
Or1af1	A	C	2: 37,109,671 (GRCm39)	T57P	possibly damaging	Het
Or51a43	A	T	7: 103,717,666 (GRCm39)	C191S	probably damaging	Het
Or52h7	T	A	7: 104,214,278 (GRCm39)	N283K	probably damaging	Het
Or8c10	G	A	9: 38,279,492 (GRCm39)	V217I	probably benign	Het
Or8j3	A	G	2: 86,028,596 (GRCm39)	S167P	probably damaging	Het
Otogl	A	C	10: 107,714,013 (GRCm39)		probably null	Het
Pde4b	C	T	4: 102,462,373 (GRCm39)	T511I	probably damaging	Het
Proser3	A	G	7: 30,239,172 (GRCm39)		probably null	Het
Psmd12	G	A	11: 107,370,472 (GRCm39)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,598,272 (GRCm39)	M170K	probably benign	Het
Rims2	C	T	15: 39,374,710 (GRCm39)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,834,573 (GRCm39)	V281M	probably damaging	Het
Rreb1	C	A	13: 38,130,904 (GRCm39)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,054,965 (GRCm39)	D383G	probably benign	Het
Sik3	C	T	9: 46,132,446 (GRCm39)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,291,968 (GRCm39)	V63E	probably damaging	Het
Son	A	G	16: 91,453,974 (GRCm39)	D907G	probably damaging	Het
Src	G	A	2: 157,311,132 (GRCm39)	V401M	probably damaging	Het
St3gal4	T	C	9: 34,966,053 (GRCm39)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,494,114 (GRCm39)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,247,333 (GRCm39)		probably null	Het
Tlk2	G	A	11: 105,147,778 (GRCm39)		probably null	Het
Tmbim6	T	A	15: 99,299,496 (GRCm39)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,221,026 (GRCm39)	I334F	probably damaging	Het
Ttn	T	C	2: 76,670,659 (GRCm39)		probably null	Het
Ubl7	T	A	9: 57,821,894 (GRCm39)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 87,983,433 (GRCm39)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,890 (GRCm39)	C217R	probably damaging	Het
Usp50	T	C	2: 126,603,554 (GRCm39)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,012,156 (GRCm39)	V26A	probably benign	Het
Wdfy3	A	C	5: 102,065,445 (GRCm39)	V1241G	possibly damaging	Het
Wtap	A	C	17: 13,200,631 (GRCm39)		probably null	Het
Zbtb40	C	A	4: 136,712,148 (GRCm39)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,316,990 (GRCm39)	S20P	probably damaging	Het
Zfp592	A	G	7: 80,674,227 (GRCm39)	D397G	probably damaging	Het
Zfp747	A	T	7: 126,973,676 (GRCm39)	S165T	probably benign	Het
Zfp949	C	T	9: 88,451,891 (GRCm39)	T487I	probably damaging	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het

Other mutations in Cog8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Cog8	APN	8	107,780,697 (GRCm39)	missense	probably benign	0.23
IGL01959:Cog8	APN	8	107,783,010 (GRCm39)	missense	probably damaging	1.00
IGL02563:Cog8	APN	8	107,783,055 (GRCm39)	missense	possibly damaging	0.70
IGL02961:Cog8	APN	8	107,782,885 (GRCm39)	unclassified	probably benign
R0076:Cog8	UTSW	8	107,780,765 (GRCm39)	missense	possibly damaging	0.96
R0255:Cog8	UTSW	8	107,775,777 (GRCm39)	unclassified	probably benign
R0433:Cog8	UTSW	8	107,783,110 (GRCm39)	missense	possibly damaging	0.52
R0990:Cog8	UTSW	8	107,779,119 (GRCm39)	splice site	probably null
R1567:Cog8	UTSW	8	107,780,740 (GRCm39)	nonsense	probably null
R2239:Cog8	UTSW	8	107,782,993 (GRCm39)	missense	probably damaging	1.00
R2380:Cog8	UTSW	8	107,782,993 (GRCm39)	missense	probably damaging	1.00
R2910:Cog8	UTSW	8	107,780,853 (GRCm39)	missense	probably benign	0.25
R3978:Cog8	UTSW	8	107,779,669 (GRCm39)	missense	probably damaging	1.00
R4560:Cog8	UTSW	8	107,778,843 (GRCm39)	critical splice donor site	probably null
R4863:Cog8	UTSW	8	107,776,806 (GRCm39)	missense	probably damaging	1.00
R4879:Cog8	UTSW	8	107,782,984 (GRCm39)	missense	probably damaging	0.99
R5026:Cog8	UTSW	8	107,775,757 (GRCm39)	missense	probably benign
R5721:Cog8	UTSW	8	107,776,780 (GRCm39)	missense	probably benign	0.00
R6489:Cog8	UTSW	8	107,776,933 (GRCm39)	missense	probably benign	0.00
R7146:Cog8	UTSW	8	107,779,005 (GRCm39)	missense	possibly damaging	0.47
R7157:Cog8	UTSW	8	107,779,131 (GRCm39)	missense	probably benign	0.04
R7229:Cog8	UTSW	8	107,782,984 (GRCm39)	missense	probably damaging	0.99
R7592:Cog8	UTSW	8	107,776,861 (GRCm39)	missense	possibly damaging	0.91
R8237:Cog8	UTSW	8	107,782,923 (GRCm39)	missense	probably benign	0.03
R8835:Cog8	UTSW	8	107,773,920 (GRCm39)	unclassified	probably benign
R8941:Cog8	UTSW	8	107,783,202 (GRCm39)	missense	probably damaging	1.00
R9075:Cog8	UTSW	8	107,779,208 (GRCm39)	missense	probably damaging	1.00
R9076:Cog8	UTSW	8	107,779,208 (GRCm39)	missense	probably damaging	1.00
R9077:Cog8	UTSW	8	107,779,208 (GRCm39)	missense	probably damaging	1.00
R9255:Cog8	UTSW	8	107,779,383 (GRCm39)	missense	probably damaging	1.00
R9672:Cog8	UTSW	8	107,780,658 (GRCm39)	missense	probably damaging	1.00
T0722:Cog8	UTSW	8	107,775,625 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGGAAGATGGCACCCTCATTCAC -3'
(R):5'- AAGCTGCCGAAGCTGGAGAATC -3'

Sequencing Primer
(F):5'- ATGGCAGGTGGCAGCAG -3'
(R):5'- CAAGAATGTTAGCTTCCAGTGTCC -3'

Posted On

2014-03-14