Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Cog3'

202587

Institutional Source

Beutler Lab

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

MMRRC Submission

039841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75939790-75991998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75979784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 182 (E182D)

Ref Sequence

ENSEMBL: ENSMUSP00000045016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049168] [ENSMUST00000227473]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049168
AA Change: E182D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: E182D

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Sec34	130	277	9.5e-57	PFAM
Blast:HisKA	745	810	1e-5	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226686

Predicted Effect

probably benign
Transcript: ENSMUST00000227473
AA Change: E172D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.1928

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,543,236 (GRCm39)	N595Y	probably benign	Het
Abca6	A	G	11: 110,124,671 (GRCm39)		probably benign	Het
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Brip1	T	C	11: 86,077,906 (GRCm39)	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,788,601 (GRCm39)	D536G	probably benign	Het
Cd109	A	G	9: 78,524,287 (GRCm39)	N67S	probably benign	Het
Cd8a	G	T	6: 71,350,947 (GRCm39)	M137I	possibly damaging	Het
Ces2g	T	C	8: 105,693,569 (GRCm39)	F417L	probably benign	Het
Clec2g	A	G	6: 128,925,660 (GRCm39)	N23S	unknown	Het
Cntnap2	T	C	6: 46,507,567 (GRCm39)	Y61C	probably damaging	Het
Dbpht2	A	G	12: 74,342,624 (GRCm39)		noncoding transcript	Het
Dock4	A	T	12: 40,686,227 (GRCm39)	N154I	probably damaging	Het
Dysf	T	G	6: 84,128,906 (GRCm39)	V1422G	possibly damaging	Het
E2f3	T	C	13: 30,104,159 (GRCm39)	D140G	probably damaging	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Epb41l2	T	A	10: 25,317,466 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,035,857 (GRCm39)	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,355,487 (GRCm39)	D444G	probably benign	Het
Fam163a	T	C	1: 155,955,787 (GRCm39)	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Gcm2	T	C	13: 41,259,367 (GRCm39)	H34R	probably benign	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gli3	T	C	13: 15,823,276 (GRCm39)	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Htra2	G	T	6: 83,028,583 (GRCm39)	A318D	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lama4	T	A	10: 38,909,121 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Nxpe4	A	G	9: 48,304,678 (GRCm39)	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Or2ab1	A	G	11: 58,489,133 (GRCm39)	I304V	probably damaging	Het
Or8b41	T	A	9: 38,055,025 (GRCm39)	I198N	possibly damaging	Het
Pkig	T	A	2: 163,563,147 (GRCm39)	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,369,750 (GRCm39)	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,859,220 (GRCm39)	A446T	probably damaging	Het
Psme4	T	A	11: 30,754,353 (GRCm39)	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,787,880 (GRCm39)	K137E	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc35f1	C	T	10: 52,809,291 (GRCm39)	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,393,710 (GRCm39)	Y551F	probably benign	Het
Spata31	T	C	13: 65,069,612 (GRCm39)	S587P	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Taf5l	A	G	8: 124,730,152 (GRCm39)	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,641,271 (GRCm39)	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,119,493 (GRCm39)	C160*	probably null	Het
Trim45	A	G	3: 100,830,283 (GRCm39)	N19S	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Usp25	A	G	16: 76,911,838 (GRCm39)	I956V	probably benign	Het
Utf1	C	A	7: 139,524,213 (GRCm39)	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Wasf1	T	A	10: 40,802,585 (GRCm39)	V80D	probably damaging	Het
Wdr72	G	A	9: 74,183,298 (GRCm39)	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,675,422 (GRCm39)	M1V	probably null	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,734,525 (GRCm39)	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,538,505 (GRCm39)	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,791,328 (GRCm39)	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,739,616 (GRCm39)	T474A	possibly damaging	Het

Other mutations in Cog3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Cog3	APN	14	75,968,044 (GRCm39)	missense	possibly damaging	0.79
IGL02637:Cog3	APN	14	75,959,636 (GRCm39)	splice site	probably benign
IGL02934:Cog3	APN	14	75,979,129 (GRCm39)	missense	probably damaging	0.99
R0105:Cog3	UTSW	14	75,959,580 (GRCm39)	missense	probably damaging	0.99
R0105:Cog3	UTSW	14	75,959,580 (GRCm39)	missense	probably damaging	0.99
R0403:Cog3	UTSW	14	75,979,767 (GRCm39)	splice site	probably benign
R0972:Cog3	UTSW	14	75,954,610 (GRCm39)	missense	probably benign
R1735:Cog3	UTSW	14	75,966,761 (GRCm39)	nonsense	probably null
R1896:Cog3	UTSW	14	75,979,784 (GRCm39)	missense	probably benign	0.03
R2517:Cog3	UTSW	14	75,979,182 (GRCm39)	missense	probably benign	0.01
R2567:Cog3	UTSW	14	75,991,730 (GRCm39)	missense	probably benign
R2962:Cog3	UTSW	14	75,977,974 (GRCm39)	critical splice donor site	probably null
R3103:Cog3	UTSW	14	75,984,641 (GRCm39)	critical splice acceptor site	probably null
R3689:Cog3	UTSW	14	75,991,878 (GRCm39)	start codon destroyed	probably null
R3691:Cog3	UTSW	14	75,991,878 (GRCm39)	start codon destroyed	probably null
R3927:Cog3	UTSW	14	75,980,998 (GRCm39)	splice site	probably benign
R4581:Cog3	UTSW	14	75,970,391 (GRCm39)	missense	probably benign	0.04
R4932:Cog3	UTSW	14	75,970,394 (GRCm39)	missense	probably damaging	0.98
R5560:Cog3	UTSW	14	75,966,833 (GRCm39)	missense	probably damaging	1.00
R5654:Cog3	UTSW	14	75,962,239 (GRCm39)	missense	probably benign	0.03
R6253:Cog3	UTSW	14	75,957,152 (GRCm39)	missense	probably damaging	1.00
R6419:Cog3	UTSW	14	75,962,178 (GRCm39)	nonsense	probably null
R6791:Cog3	UTSW	14	75,968,118 (GRCm39)	missense	probably damaging	1.00
R6803:Cog3	UTSW	14	75,941,479 (GRCm39)	missense	probably benign	0.00
R7015:Cog3	UTSW	14	75,950,716 (GRCm39)	missense	possibly damaging	0.81
R7998:Cog3	UTSW	14	75,984,533 (GRCm39)	missense	possibly damaging	0.94
R7999:Cog3	UTSW	14	75,984,533 (GRCm39)	missense	possibly damaging	0.94
R8075:Cog3	UTSW	14	75,968,142 (GRCm39)	missense	probably damaging	1.00
R8294:Cog3	UTSW	14	75,954,619 (GRCm39)	missense	probably damaging	1.00
R8329:Cog3	UTSW	14	75,978,003 (GRCm39)	missense	probably damaging	0.99
R8434:Cog3	UTSW	14	75,979,836 (GRCm39)	missense	probably damaging	1.00
R9170:Cog3	UTSW	14	75,966,802 (GRCm39)	missense	probably damaging	1.00
X0017:Cog3	UTSW	14	75,979,181 (GRCm39)	missense	probably benign	0.01
X0021:Cog3	UTSW	14	75,981,033 (GRCm39)	missense	possibly damaging	0.87
X0066:Cog3	UTSW	14	75,979,181 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAAAACAAGGAAGTCTGCCG -3'
(R):5'- AGCAGTGGGTCAGATTTACACC -3'

Sequencing Primer
(F):5'- AAGTCTGCCGGGGCTCTG -3'
(R):5'- GGGGGAAAATATTATTGCCAATCCCC -3'

Posted On

2014-06-23