Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Cog8'

557382

Institutional Source

Beutler Lab

Gene Symbol

Cog8

Ensembl Gene

ENSMUSG00000031916

Gene Name

component of oligomeric golgi complex 8

Synonyms

C87832

MMRRC Submission

045258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107775341-107783369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107779131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 382 (I382T)

Ref Sequence

ENSEMBL: ENSMUSP00000034391 (fasta)

Gene Model

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

AlphaFold

Q9JJA2

Predicted Effect

probably benign
Transcript: ENSMUST00000034391
AA Change: I382T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
AA Change: I382T

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 benign
Transcript: ENSMUST00000095517
AA Change: I382T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
AA Change: I382T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,276,400 (GRCm39)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,399,348 (GRCm39)	K2077*	probably null	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,789,916 (GRCm39)	Q511K	possibly damaging	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kbtbd12	C	T	6: 88,595,650 (GRCm39)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mocs2	A	T	13: 114,961,143 (GRCm39)	I47L	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	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
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'- ATCCTGTGCTAGAGCCACAG -3'
(R):5'- CTGCAGAAAATCTCACAGTTCC -3'

Sequencing Primer
(F):5'- CAACCAAAATGTTGTTGAGGAAAC -3'
(R):5'- GAAAATCTCACAGTTCCTGCAGGTG -3'

Posted On

2019-06-26