Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Cog1'

275122

Institutional Source

Beutler Lab

Gene Symbol

Cog1

Ensembl Gene

ENSMUSG00000018661

Gene Name

component of oligomeric golgi complex 1

Synonyms

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113539995-113557880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113545836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 370 (M370I)

Ref Sequence

ENSEMBL: ENSMUSP00000018805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018805] [ENSMUST00000063776] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000148736] [ENSMUST00000152653] [ENSMUST00000146031]

AlphaFold

Q9Z160

Predicted Effect

probably benign
Transcript: ENSMUST00000018805
AA Change: M370I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018805
Gene: ENSMUSG00000018661
AA Change: M370I

Domain	Start	End	E-Value	Type
Pfam:Vps51	12	93	1.5e-17	PFAM
low complexity region	95	110	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	518	530	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063776

SMART Domains

Protein: ENSMUSP00000068394
Gene: ENSMUSG00000018661

Domain	Start	End	E-Value	Type
Pfam:Vps51	12	93	4.7e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123153

Predicted Effect

probably benign
Transcript: ENSMUST00000125890

SMART Domains

Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
Pfam:Zip	7	200	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134418

Predicted Effect

probably benign
Transcript: ENSMUST00000136392

Predicted Effect

probably benign
Transcript: ENSMUST00000137878

Predicted Effect

probably benign
Transcript: ENSMUST00000148736

Predicted Effect

probably benign
Transcript: ENSMUST00000152653

Predicted Effect

probably benign
Transcript: ENSMUST00000146031

SMART Domains

Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142069

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Col6a6	C	G	9: 105,657,891 (GRCm39)	V774L	probably damaging	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,418,113 (GRCm39)	F94S	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rnf217	T	A	10: 31,379,804 (GRCm39)	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Tinag	C	T	9: 76,859,187 (GRCm39)	D474N	probably benign	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	probably benign	Het

Other mutations in Cog1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02407:Cog1	APN	11	113,544,852 (GRCm39)	missense	probably benign	0.02
IGL02631:Cog1	APN	11	113,547,304 (GRCm39)	nonsense	probably null
IGL03258:Cog1	APN	11	113,545,919 (GRCm39)	nonsense	probably null
R0243:Cog1	UTSW	11	113,547,821 (GRCm39)	unclassified	probably benign
R0336:Cog1	UTSW	11	113,553,076 (GRCm39)	missense	probably benign	0.28
R1061:Cog1	UTSW	11	113,542,863 (GRCm39)	missense	probably benign
R1539:Cog1	UTSW	11	113,543,058 (GRCm39)	missense	possibly damaging	0.93
R1757:Cog1	UTSW	11	113,543,130 (GRCm39)	missense	possibly damaging	0.71
R1782:Cog1	UTSW	11	113,544,792 (GRCm39)	missense	probably benign
R1924:Cog1	UTSW	11	113,547,038 (GRCm39)	missense	probably benign
R2120:Cog1	UTSW	11	113,540,424 (GRCm39)	missense	probably damaging	0.98
R2121:Cog1	UTSW	11	113,540,424 (GRCm39)	missense	probably damaging	0.98
R2137:Cog1	UTSW	11	113,550,127 (GRCm39)	missense	probably damaging	1.00
R4042:Cog1	UTSW	11	113,551,836 (GRCm39)	missense	probably damaging	1.00
R4287:Cog1	UTSW	11	113,544,853 (GRCm39)	missense	probably damaging	0.99
R4679:Cog1	UTSW	11	113,543,116 (GRCm39)	missense	probably damaging	1.00
R4716:Cog1	UTSW	11	113,547,923 (GRCm39)	missense	probably damaging	1.00
R4774:Cog1	UTSW	11	113,548,253 (GRCm39)	missense	possibly damaging	0.84
R6575:Cog1	UTSW	11	113,546,887 (GRCm39)	missense	probably benign	0.36
R7026:Cog1	UTSW	11	113,540,415 (GRCm39)	missense	probably damaging	1.00
R7233:Cog1	UTSW	11	113,540,556 (GRCm39)	missense	probably damaging	1.00
R8013:Cog1	UTSW	11	113,546,990 (GRCm39)	missense	probably damaging	1.00
R8014:Cog1	UTSW	11	113,546,990 (GRCm39)	missense	probably damaging	1.00
R8027:Cog1	UTSW	11	113,543,215 (GRCm39)	missense	probably damaging	1.00
R8865:Cog1	UTSW	11	113,549,324 (GRCm39)	missense	probably benign	0.33
R9071:Cog1	UTSW	11	113,546,939 (GRCm39)	missense	probably damaging	0.99
R9110:Cog1	UTSW	11	113,544,807 (GRCm39)	missense	possibly damaging	0.80
R9255:Cog1	UTSW	11	113,547,019 (GRCm39)	missense	probably benign
Z1176:Cog1	UTSW	11	113,542,808 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCGACATACTTAGTTCAAAGG -3'
(R):5'- CCTGTAACCGATCCAGGAAGAG -3'

Sequencing Primer
(F):5'- ATACCAGGTGTGCTGGCATAC -3'
(R):5'- ATCCAGGAAGAGCTGCTGCATC -3'

Posted On

2015-04-02