Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Cog8'

689801

Institutional Source

Beutler Lab

Gene Symbol

Cog8

Ensembl Gene

ENSMUSG00000031916

Gene Name

component of oligomeric golgi complex 8

Synonyms

C87832

MMRRC Submission

068897-MU

Accession Numbers

Essential gene?

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

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107775341-107783369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107779208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 356 (M356I)

Ref Sequence

ENSEMBL: ENSMUSP00000034391 (fasta)

Gene Model

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

AlphaFold

Q9JJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034391
AA Change: M356I

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

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: M356I

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: M356I

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

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: M356I

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: 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

Meta Mutation Damage Score

0.7412

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	A	8: 89,054,336 (GRCm39)	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,106,687 (GRCm39)	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,570,247 (GRCm39)		probably null	Het
Apbb2	A	C	5: 66,469,507 (GRCm39)	L554W	probably damaging	Het
Arhgef10	C	T	8: 15,024,993 (GRCm39)	P722S	probably damaging	Het
B3galt9	A	T	2: 34,729,209 (GRCm39)	Y336F	probably damaging	Het
Capns1	A	C	7: 29,893,510 (GRCm39)	M1R	probably null	Het
Chst1	C	T	2: 92,443,761 (GRCm39)	Q78*	probably null	Het
Clec12b	A	G	6: 129,356,580 (GRCm39)	S195P	possibly damaging	Het
Cyp4b1	T	C	4: 115,482,424 (GRCm39)	N452D	probably damaging	Het
Defb40	A	T	8: 19,024,994 (GRCm39)	Y71N	probably benign	Het
Dhx8	G	T	11: 101,629,021 (GRCm39)	R190L		Het
Disp1	G	A	1: 182,868,799 (GRCm39)	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,008,464 (GRCm39)	Y787F	probably benign	Het
Egflam	T	C	15: 7,237,155 (GRCm39)	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,603,254 (GRCm39)	Y272N	probably damaging	Het
Fat1	T	C	8: 45,492,938 (GRCm39)	Y3887H	probably damaging	Het
Fpr3	T	A	17: 18,191,725 (GRCm39)	I332N	probably benign	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Fv1	T	C	4: 147,953,628 (GRCm39)	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,198,289 (GRCm39)	A387V	probably benign	Het
Gna11	T	C	10: 81,366,715 (GRCm39)	T332A		Het
Gpr161	T	A	1: 165,133,757 (GRCm39)	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Heatr3	A	T	8: 88,876,827 (GRCm39)	M290L	probably benign	Het
Ifi47	T	G	11: 48,986,842 (GRCm39)	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,337,962 (GRCm39)	M234V	possibly damaging	Het
Klra4	A	G	6: 130,039,107 (GRCm39)	I95T	possibly damaging	Het
Krt84	A	G	15: 101,438,098 (GRCm39)	F286L	probably damaging	Het
Lrp2	A	G	2: 69,350,260 (GRCm39)	V704A	probably benign	Het
Lypd6b	A	T	2: 49,837,534 (GRCm39)	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,024,611 (GRCm39)	E22G	probably benign	Het
Ncapg	T	C	5: 45,833,983 (GRCm39)	C340R	probably benign	Het
Ncor2	A	G	5: 125,111,086 (GRCm39)	L394P		Het
Nek1	T	G	8: 61,481,768 (GRCm39)	S228A	probably damaging	Het
Or2ak7	T	C	11: 58,574,722 (GRCm39)	C8R	probably benign	Het
Or2t29	A	T	11: 58,433,782 (GRCm39)	C186*	probably null	Het
Or2t44	T	A	11: 58,677,559 (GRCm39)	F166L	possibly damaging	Het
Or4c119	C	T	2: 88,986,719 (GRCm39)	E267K	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdha8	C	A	18: 37,126,285 (GRCm39)	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Ptprn	A	T	1: 75,229,018 (GRCm39)	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,083,473 (GRCm39)		probably benign	Het
Sae1	A	G	7: 16,070,668 (GRCm39)	F281L	probably benign	Het
Slc25a23	A	G	17: 57,354,309 (GRCm39)	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,309,175 (GRCm39)	T222K	probably damaging	Het
Smarca2	T	A	19: 26,659,452 (GRCm39)	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,091 (GRCm39)	V897L	probably benign	Het
Spon2	C	A	5: 33,374,054 (GRCm39)	E110*	probably null	Het
Sstr2	A	G	11: 113,515,177 (GRCm39)	N32S	probably benign	Het
Stk4	T	C	2: 163,959,985 (GRCm39)	V415A	probably benign	Het
Tcaf1	T	G	6: 42,654,372 (GRCm39)	T607P	probably benign	Het
Ush1c	C	A	7: 45,850,480 (GRCm39)	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354 (GRCm39)	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,340,231 (GRCm39)	S81P	probably damaging	Het
Vps45	A	G	3: 95,960,345 (GRCm39)		probably benign	Het
Wdr6	A	G	9: 108,451,627 (GRCm39)	V752A	probably benign	Het
Xkr4	G	A	1: 3,286,358 (GRCm39)	R611*	probably null	Het
Zc3h6	T	G	2: 128,859,096 (GRCm39)	Y1042*	probably null	Het
Zfp236	A	G	18: 82,638,469 (GRCm39)	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,215 (GRCm39)	N583K	probably benign	Het
Zpld1	T	C	16: 55,061,764 (GRCm39)	S206G	probably benign	Het
Zxdc	T	A	6: 90,349,821 (GRCm39)	S372R	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
R1457:Cog8	UTSW	8	107,779,528 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTTACTGCTGCCCAGGATG -3'
(R):5'- AAAACCATTGAGGCTTGCCG -3'

Sequencing Primer
(F):5'- ATGGCTGCAGTCGAGATG -3'
(R):5'- ACCGTGCTATTTTCTCAGATGAGGAC -3'

Posted On

2021-11-19