Mutagenetix > Incidental Mutation

Incidental Mutation 'R7998:Cog3'

616218

Institutional Source

Beutler Lab

Gene Symbol

Cog3

Ensembl Gene

ENSMUSG00000034893

Gene Name

component of oligomeric golgi complex 3

Synonyms

MMRRC Submission

046038-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75939790-75991998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75984533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 94 (S94Y)

Ref Sequence

ENSEMBL: ENSMUSP00000045016 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049168
AA Change: S94Y

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045016
Gene: ENSMUSG00000034893
AA Change: S94Y

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

possibly damaging
Transcript: ENSMUST00000227473
AA Change: S84Y

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,649 (GRCm39)	R216C	probably benign	Het
Acsl3	C	T	1: 78,671,988 (GRCm39)	P294L	probably damaging	Het
Alox12b	T	C	11: 69,059,663 (GRCm39)	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,377,959 (GRCm39)	D1236G	probably damaging	Het
Astl	T	C	2: 127,192,419 (GRCm39)	L254P	probably damaging	Het
Btbd7	A	C	12: 102,761,499 (GRCm39)	L562R	probably damaging	Het
Chl1	T	C	6: 103,706,250 (GRCm39)	V1195A	probably benign	Het
Ciao2b	T	A	8: 105,367,668 (GRCm39)	S94C	probably damaging	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpne6	A	C	14: 55,753,751 (GRCm39)	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,670,328 (GRCm39)	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,167,720 (GRCm39)	Q724H	possibly damaging	Het
Fbxw16	A	G	9: 109,265,766 (GRCm39)	V351A	probably damaging	Het
G2e3	A	T	12: 51,400,624 (GRCm39)	E59D	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm10837	G	T	14: 122,728,053 (GRCm39)		probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr18	T	C	14: 122,149,393 (GRCm39)	I211V	probably benign	Het
Gstm7	T	A	3: 107,837,657 (GRCm39)	D98V	probably damaging	Het
Hspa8	A	G	9: 40,715,810 (GRCm39)	Y525C	probably damaging	Het
Itga7	T	C	10: 128,770,020 (GRCm39)	S55P	probably damaging	Het
Itpr1	T	C	6: 108,394,909 (GRCm39)	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,647,824 (GRCm39)	G893C	unknown	Het
Kcnc1	A	G	7: 46,047,223 (GRCm39)	D41G	probably benign	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Leo1	G	T	9: 75,352,558 (GRCm39)	G34C	probably benign	Het
Map4	G	A	9: 109,908,929 (GRCm39)	V1050M	probably damaging	Het
Mast3	A	G	8: 71,236,214 (GRCm39)	V722A	probably benign	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mier1	T	C	4: 103,019,812 (GRCm39)	F512S	probably benign	Het
Mix23	T	A	16: 35,905,403 (GRCm39)	V65D	probably benign	Het
Mov10l1	T	A	15: 88,937,642 (GRCm39)	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,568,478 (GRCm39)	E409G	probably benign	Het
Muc16	G	T	9: 18,551,188 (GRCm39)	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,529,358 (GRCm39)	S213R	probably damaging	Het
Npffr2	T	C	5: 89,731,149 (GRCm39)	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,559,905 (GRCm39)	V1221A	probably damaging	Het
Nup107	A	G	10: 117,593,899 (GRCm39)	F765L	probably damaging	Het
Nup188	T	C	2: 30,220,983 (GRCm39)	L991P	probably damaging	Het
Or13f5	A	T	4: 52,825,970 (GRCm39)	D191V	possibly damaging	Het
Or5ac23	T	A	16: 59,149,633 (GRCm39)	M80L	probably benign	Het
Pla2g7	A	T	17: 43,922,209 (GRCm39)	I363L	probably benign	Het
Ppp2r1a	T	C	17: 21,181,901 (GRCm39)	F473S	possibly damaging	Het
Prex1	A	G	2: 166,428,965 (GRCm39)		probably null	Het
Ptov1	A	G	7: 44,514,353 (GRCm39)	V263A	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Sdk2	T	A	11: 113,750,764 (GRCm39)	I550F	probably benign	Het
Shprh	T	A	10: 11,061,085 (GRCm39)	W1133R	probably damaging	Het
Slc28a2b	T	C	2: 122,324,839 (GRCm39)	L137P	probably damaging	Het
Syne2	T	C	12: 76,134,632 (GRCm39)	V1297A	probably damaging	Het
Themis2	A	G	4: 132,519,875 (GRCm39)	I50T	probably damaging	Het
Tmprss15	C	A	16: 78,798,731 (GRCm39)	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,572,711 (GRCm39)	N694K	probably benign	Het
Ttll9	T	C	2: 152,833,546 (GRCm39)	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,733,653 (GRCm39)	V4541L	unknown	Het
Usp32	G	T	11: 84,885,252 (GRCm39)	A1265E	probably damaging	Het
Vcan	T	A	13: 89,852,446 (GRCm39)	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,651,565 (GRCm39)	I293T		Het
Wdr36	T	G	18: 32,985,572 (GRCm39)	D496E	probably damaging	Het
Wrn	T	C	8: 33,782,671 (GRCm39)	N753S	probably benign	Het
Zmat3	T	C	3: 32,395,815 (GRCm39)	R231G	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
R1813:Cog3	UTSW	14	75,979,784 (GRCm39)	missense	probably benign	0.03
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
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'- CTGCAGGTGTTAAGCTATGTTC -3'
(R):5'- ATCCTGGAGAGGCCTAGTAGAG -3'

Sequencing Primer
(F):5'- CATAGATACCCTAGGATACATGTAGC -3'
(R):5'- CTTGTTCTGTAGACCAAGTAAGCAGG -3'

Posted On

2020-01-23