Mutagenetix > Incidental Mutation

Incidental Mutation 'R5326:Cog6'

421933

Institutional Source

Beutler Lab

Gene Symbol

Cog6

Ensembl Gene

ENSMUSG00000027742

Gene Name

component of oligomeric golgi complex 6

Synonyms

MMRRC Submission

042909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52889544-52924644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52921237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 123 (Q123L)

Ref Sequence

ENSEMBL: ENSMUSP00000141339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036665] [ENSMUST00000036665] [ENSMUST00000036665] [ENSMUST00000036665] [ENSMUST00000193432] [ENSMUST00000193432] [ENSMUST00000193432] [ENSMUST00000193432] [ENSMUST00000195183]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036665
AA Change: Q123L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	656	N/A	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000036665
AA Change: Q123L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	656	N/A	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000036665
AA Change: Q123L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	656	N/A	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000036665
AA Change: Q123L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048603
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	656	N/A	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193043

Predicted Effect

probably null
Transcript: ENSMUST00000193432
AA Change: Q123L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	625	5e-289	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000193432
AA Change: Q123L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	625	5e-289	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000193432
AA Change: Q123L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	625	5e-289	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000193432
AA Change: Q123L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141339
Gene: ENSMUSG00000027742
AA Change: Q123L

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
COG6	55	625	5e-289	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195183

SMART Domains

Protein: ENSMUSP00000141733
Gene: ENSMUSG00000027742

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
Pfam:COG6	39	174	5.5e-32	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,336 (GRCm39)	T127A	probably damaging	Het
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Actl6b	T	C	5: 137,565,313 (GRCm39)	S366P	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Adgrf5	T	A	17: 43,750,965 (GRCm39)	I510N	probably damaging	Het
Adra2a	A	G	19: 54,035,112 (GRCm39)	Y156C	probably damaging	Het
Angpt4	T	C	2: 151,767,464 (GRCm39)		probably null	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Brd3	A	G	2: 27,340,556 (GRCm39)	L551P	probably benign	Het
Calb2	C	T	8: 110,883,610 (GRCm39)	G38D	possibly damaging	Het
Cand1	G	A	10: 119,047,933 (GRCm39)	A519V	probably benign	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Depdc1a	T	C	3: 159,232,286 (GRCm39)	V679A	probably damaging	Het
Dyrk1a	A	G	16: 94,487,440 (GRCm39)	D512G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Frs2	T	C	10: 116,913,468 (GRCm39)	S121G	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Ggt1	T	C	10: 75,421,540 (GRCm39)		probably null	Het
Gigyf2	T	C	1: 87,352,860 (GRCm39)		probably benign	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm9476	T	A	10: 100,142,996 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,703,127 (GRCm39)	N102K	possibly damaging	Het
Gml	T	C	15: 74,688,299 (GRCm39)	N56S	probably damaging	Het
Gpam	A	C	19: 55,079,597 (GRCm39)	S128R	probably benign	Het
Gucy1b2	C	T	14: 62,690,779 (GRCm39)		probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hmx3	C	T	7: 131,146,146 (GRCm39)	Q285*	probably null	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighv5-17	T	C	12: 113,822,878 (GRCm39)	D81G	possibly damaging	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Iqcd	A	G	5: 120,740,440 (GRCm39)	Q257R	probably damaging	Het
Itpk1	T	C	12: 102,540,225 (GRCm39)	N286S	possibly damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Knop1	T	C	7: 118,452,495 (GRCm39)	K23E	possibly damaging	Het
Ksr2	T	A	5: 117,846,305 (GRCm39)	V724E	probably damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,355,907 (GRCm39)	T622S	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtmr2	A	G	9: 13,699,943 (GRCm39)	Y38C	probably damaging	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nadsyn1	T	A	7: 143,362,567 (GRCm39)	R279W	probably benign	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56b35	T	A	7: 104,963,646 (GRCm39)	F145Y	probably damaging	Het
Or7a38	G	A	10: 78,753,420 (GRCm39)	V249I	possibly damaging	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Prkar1b	T	C	5: 139,113,544 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,828,076 (GRCm39)	Y467H	probably damaging	Het
Rin1	A	G	19: 5,102,652 (GRCm39)	E387G	probably damaging	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Seh1l	C	T	18: 67,908,069 (GRCm39)		probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Snrnp70	GCGGTCCCGGTCCCGGTC	GCGGTCCCGGTC	7: 45,026,657 (GRCm39)		probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Spin1	A	G	13: 51,293,563 (GRCm39)	Y91C	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trim30c	T	A	7: 104,037,511 (GRCm39)	M152L	possibly damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Wdr11	T	C	7: 129,226,973 (GRCm39)	S812P	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zdbf2	T	G	1: 63,343,570 (GRCm39)	C650G	possibly damaging	Het
Zfp282	T	A	6: 47,882,261 (GRCm39)	N649K	probably benign	Het

Other mutations in Cog6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Cog6	APN	3	52,893,846 (GRCm39)	missense	probably benign	0.03
IGL01946:Cog6	APN	3	52,909,825 (GRCm39)	intron	probably benign
IGL02122:Cog6	APN	3	52,905,763 (GRCm39)	missense	probably benign	0.04
IGL02589:Cog6	APN	3	52,914,691 (GRCm39)	missense	probably damaging	1.00
IGL02819:Cog6	APN	3	52,916,966 (GRCm39)	missense	probably damaging	0.98
R0045:Cog6	UTSW	3	52,900,171 (GRCm39)	splice site	probably null
R0045:Cog6	UTSW	3	52,900,171 (GRCm39)	splice site	probably null
R0086:Cog6	UTSW	3	52,900,991 (GRCm39)	missense	probably damaging	0.98
R0545:Cog6	UTSW	3	52,903,496 (GRCm39)	missense	probably damaging	1.00
R0707:Cog6	UTSW	3	52,921,283 (GRCm39)	missense	possibly damaging	0.71
R0718:Cog6	UTSW	3	52,918,050 (GRCm39)	missense	probably benign	0.35
R1169:Cog6	UTSW	3	52,921,265 (GRCm39)	missense	probably benign	0.30
R1451:Cog6	UTSW	3	52,916,534 (GRCm39)	missense	possibly damaging	0.78
R1891:Cog6	UTSW	3	52,890,601 (GRCm39)	missense	probably benign
R2249:Cog6	UTSW	3	52,907,900 (GRCm39)	critical splice donor site	probably null
R2264:Cog6	UTSW	3	52,900,332 (GRCm39)	nonsense	probably null
R3745:Cog6	UTSW	3	52,900,240 (GRCm39)	missense	probably benign	0.05
R4027:Cog6	UTSW	3	52,909,950 (GRCm39)	missense	possibly damaging	0.95
R4230:Cog6	UTSW	3	52,900,229 (GRCm39)	missense	probably benign	0.13
R4400:Cog6	UTSW	3	52,920,362 (GRCm39)	missense	probably benign	0.11
R4551:Cog6	UTSW	3	52,905,741 (GRCm39)	missense	probably damaging	1.00
R4866:Cog6	UTSW	3	52,918,019 (GRCm39)	missense	probably benign	0.10
R6169:Cog6	UTSW	3	52,914,722 (GRCm39)	missense	probably benign	0.03
R6273:Cog6	UTSW	3	52,903,473 (GRCm39)	missense	probably damaging	1.00
R7169:Cog6	UTSW	3	52,897,387 (GRCm39)	missense	possibly damaging	0.94
R7199:Cog6	UTSW	3	52,890,610 (GRCm39)	missense	probably benign	0.21
R7243:Cog6	UTSW	3	52,909,736 (GRCm39)	missense	probably damaging	1.00
R7299:Cog6	UTSW	3	52,909,928 (GRCm39)	missense	probably benign	0.01
R8254:Cog6	UTSW	3	52,900,938 (GRCm39)	missense	probably benign
R8687:Cog6	UTSW	3	52,892,338 (GRCm39)	missense	probably benign
R8759:Cog6	UTSW	3	52,897,465 (GRCm39)	missense	probably damaging	1.00
R8827:Cog6	UTSW	3	52,890,535 (GRCm39)	missense	probably benign
R9539:Cog6	UTSW	3	52,914,722 (GRCm39)	missense	probably benign	0.03
R9688:Cog6	UTSW	3	52,916,528 (GRCm39)	missense	probably benign	0.03
R9729:Cog6	UTSW	3	52,900,907 (GRCm39)	missense	probably damaging	0.98
Z1177:Cog6	UTSW	3	52,921,285 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCATCTATGAAGCAGATCCC -3'
(R):5'- GACCAGTATCTTTAATGCAACACAC -3'

Sequencing Primer
(F):5'- CTATAGAATAGGACAAACCAGGCGC -3'
(R):5'- CAACAAAAATTGTGGGATGTGGC -3'

Posted On

2016-08-04