Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Cog8'

562360

Institutional Source

Beutler Lab

Gene Symbol

Cog8

Ensembl Gene

ENSMUSG00000031916

Gene Name

component of oligomeric golgi complex 8

Synonyms

C87832

MMRRC Submission

045301-MU

Accession Numbers

Essential gene?

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

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107775341-107783369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107782984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 102 (C102S)

Ref Sequence

ENSEMBL: ENSMUSP00000034391 (fasta)

Gene Model

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

AlphaFold

Q9JJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034391
AA Change: C102S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: C102S

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 damaging
Transcript: ENSMUST00000095517
AA Change: C102S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: C102S

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: 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

0.4779

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,832,809 (GRCm39)	E122G	probably benign	Het
Adamts2	T	C	11: 50,682,647 (GRCm39)	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,239,723 (GRCm39)	S830P	probably benign	Het
Atp1a3	T	A	7: 24,687,410 (GRCm39)	Q696L	probably benign	Het
Brox	G	A	1: 183,073,523 (GRCm39)	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,747,439 (GRCm39)	I197V	probably benign	Het
Cand2	G	A	6: 115,768,153 (GRCm39)	V433M	probably damaging	Het
Cep83	A	G	10: 94,555,527 (GRCm39)	K74E	probably damaging	Het
Chrng	A	T	1: 87,137,166 (GRCm39)	T275S	probably benign	Het
Clca3a2	T	C	3: 144,789,869 (GRCm39)	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,914,398 (GRCm39)		probably null	Het
Cnga1	T	C	5: 72,775,592 (GRCm39)	N43S	probably benign	Het
Cpsf3	G	A	12: 21,346,738 (GRCm39)		probably null	Het
Cyp26b1	G	A	6: 84,554,132 (GRCm39)	Q162*	probably null	Het
Elmod3	A	G	6: 72,571,736 (GRCm39)	F14S	probably benign	Het
Eps8	A	G	6: 137,516,354 (GRCm39)	S9P	probably benign	Het
Fam184b	T	C	5: 45,741,517 (GRCm39)	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,884,676 (GRCm39)	L654S	unknown	Het
Foxp1	A	T	6: 98,912,373 (GRCm39)	L580Q	unknown	Het
Galr1	A	G	18: 82,423,789 (GRCm39)	S163P	probably damaging	Het
Ganc	T	C	2: 120,258,256 (GRCm39)	F201L	possibly damaging	Het
Gin1	T	C	1: 97,712,876 (GRCm39)	F310L	probably benign	Het
Grik2	A	T	10: 48,977,512 (GRCm39)		probably null	Het
Haus1	A	T	18: 77,851,834 (GRCm39)	F94I	probably benign	Het
Hcn4	A	G	9: 58,760,682 (GRCm39)	Y409C	unknown	Het
Hspa1l	A	G	17: 35,196,231 (GRCm39)	K90R	probably benign	Het
Icam5	T	C	9: 20,948,297 (GRCm39)	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,296,444 (GRCm39)	H315R	probably benign	Het
Klra9	T	C	6: 130,168,224 (GRCm39)	H14R	probably damaging	Het
Krt78	A	G	15: 101,855,829 (GRCm39)	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,367,813 (GRCm39)	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,168,560 (GRCm39)	S598I	unknown	Het
Lama1	A	T	17: 68,059,441 (GRCm39)	D608V		Het
Lrrc55	G	A	2: 85,026,784 (GRCm39)	T80I	probably damaging	Het
Lyst	A	T	13: 13,818,094 (GRCm39)	T1255S	probably benign	Het
Magi2	T	C	5: 20,670,586 (GRCm39)	V310A	probably damaging	Het
Med23	C	A	10: 24,777,902 (GRCm39)	A750D	probably benign	Het
Mmp2	G	A	8: 93,558,414 (GRCm39)	R161Q	probably damaging	Het
Myo15a	A	T	11: 60,387,321 (GRCm39)	I733F	probably benign	Het
Ncan	A	T	8: 70,552,961 (GRCm39)	F1090L	possibly damaging	Het
Or2ag2b	T	G	7: 106,418,202 (GRCm39)	V304G	probably damaging	Het
Otulinl	G	A	15: 27,658,273 (GRCm39)	T199M	probably benign	Het
Pafah1b1	A	G	11: 74,573,104 (GRCm39)	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,399,740 (GRCm39)	Y564N	probably damaging	Het
Pear1	A	G	3: 87,657,596 (GRCm39)	S988P	probably benign	Het
Pgam2	A	C	11: 5,753,013 (GRCm39)	V194G	probably damaging	Het
Plvap	A	T	8: 71,964,221 (GRCm39)	I47N	probably damaging	Het
Prdx6	A	T	1: 161,074,867 (GRCm39)	L71H	probably damaging	Het
Psmb11	G	A	14: 54,863,408 (GRCm39)	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,190,845 (GRCm39)		probably null	Het
Rcn2	T	A	9: 55,964,763 (GRCm39)	N240K	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Slc12a4	T	G	8: 106,673,369 (GRCm39)	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,323,917 (GRCm39)	M1085K	unknown	Het
Smg1	A	T	7: 117,776,178 (GRCm39)	C1371S	probably benign	Het
Spg11	A	T	2: 121,938,585 (GRCm39)	F456L	probably damaging	Het
Srsf10	C	T	4: 135,583,528 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,673,931 (GRCm39)	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,179,705 (GRCm39)	D881V	unknown	Het
Tmem171	T	C	13: 98,829,133 (GRCm39)	T6A	probably benign	Het
Tmem220	T	C	11: 66,916,989 (GRCm39)	L55P	unknown	Het
Ttn	G	T	2: 76,677,125 (GRCm39)	P11037Q	unknown	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp47	T	C	7: 111,692,084 (GRCm39)	S849P	probably benign	Het
Vcan	G	A	13: 89,853,389 (GRCm39)	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,367,083 (GRCm39)	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,761,225 (GRCm39)	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,392,463 (GRCm39)	R178C	probably damaging	Het
Wdr76	G	A	2: 121,359,401 (GRCm39)	V231I	probably damaging	Het
Xirp2	A	T	2: 67,355,895 (GRCm39)	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,088,969 (GRCm39)	T933A	probably benign	Het
Zmynd8	A	G	2: 165,699,973 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,968,630 (GRCm39)	I95K	probably benign	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
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'- ACTGGGATCACAAGTGTCAATAAG -3'
(R):5'- GTACCGTGCTTGAGAGATGG -3'

Sequencing Primer
(F):5'- TGACGCTACCTACCTAGATGG -3'
(R):5'- TGGAAGATGAGGGCCTCCTG -3'

Posted On

2019-06-26