Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Golga2'

34828

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgi autoantigen, golgin subfamily a, 2

Synonyms

GM130

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R0265 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

32287384-32307921 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 32304952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000081670] [ENSMUST00000091089] [ENSMUST00000100194] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000113377] [ENSMUST00000113377] [ENSMUST00000129156] [ENSMUST00000129193] [ENSMUST00000139624] [ENSMUST00000201494] [ENSMUST00000202578] [ENSMUST00000201433]

AlphaFold

Q921M4

Predicted Effect

probably benign
Transcript: ENSMUST00000078352

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000081670

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
coiled coil region	105	173	N/A	INTRINSIC
low complexity region	189	202	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
Pfam:GOLGA2L5	337	955	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091089

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	516	623	2.7e-10	SMART
GED	650	741	9.51e-32	SMART
low complexity region	743	757	N/A	INTRINSIC
low complexity region	779	812	N/A	INTRINSIC
low complexity region	815	826	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100194

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
coiled coil region	176	244	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	372	384	N/A	INTRINSIC
Pfam:GOLGA2L5	408	1026	2.1e-299	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113350

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113352

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113365

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113377

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	71	86	N/A	INTRINSIC
coiled coil region	149	217	N/A	INTRINSIC
low complexity region	233	246	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:GOLGA2L5	381	999	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113377

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	71	86	N/A	INTRINSIC
coiled coil region	149	217	N/A	INTRINSIC
low complexity region	233	246	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:GOLGA2L5	381	999	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126276

Predicted Effect

probably benign
Transcript: ENSMUST00000129156

SMART Domains

Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
PH	1	96	2.75e-2	SMART
GED	123	214	9.51e-32	SMART
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129193

SMART Domains

Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	31	37	N/A	INTRINSIC
low complexity region	57	72	N/A	INTRINSIC
coiled coil region	136	176	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
coiled coil region	226	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131712

SMART Domains

Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
coiled coil region	106	146	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
coiled coil region	196	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139291

SMART Domains

Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:GED	1	43	3.3e-7	PFAM
low complexity region	45	59	N/A	INTRINSIC
low complexity region	81	114	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139624

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146544

Predicted Effect

probably benign
Transcript: ENSMUST00000155269

SMART Domains

Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
GED	1	53	1.63e-1	SMART
low complexity region	55	69	N/A	INTRINSIC
low complexity region	91	124	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201494

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	6.9e-180	SMART
Pfam:Dynamin_M	413	473	2.1e-14	PFAM
PH	491	598	1.2e-12	SMART
GED	625	716	6.1e-34	SMART
low complexity region	718	732	N/A	INTRINSIC
low complexity region	754	787	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	822	832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202578

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201433

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in Golga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Golga2	APN	2	32305214	missense	probably benign	0.01
IGL01561:Golga2	APN	2	32296677	missense	probably benign	0.00
IGL02396:Golga2	APN	2	32298644	splice site	probably benign
IGL02636:Golga2	APN	2	32296723	critical splice donor site	probably null
IGL02712:Golga2	APN	2	32304213	missense	probably damaging	1.00
IGL03172:Golga2	APN	2	32292156	missense	probably benign	0.04
IGL03193:Golga2	APN	2	32305008	missense	probably damaging	1.00
little	UTSW	2	32305984	nonsense	probably null
R0050:Golga2	UTSW	2	32292127	missense	probably damaging	0.96
R0050:Golga2	UTSW	2	32292127	missense	probably damaging	0.96
R0440:Golga2	UTSW	2	32302933	missense	probably damaging	1.00
R0644:Golga2	UTSW	2	32297521	missense	probably damaging	1.00
R0825:Golga2	UTSW	2	32304791	missense	probably damaging	1.00
R1179:Golga2	UTSW	2	32303695	missense	possibly damaging	0.50
R1447:Golga2	UTSW	2	32297776	missense	possibly damaging	0.69
R1459:Golga2	UTSW	2	32297795	splice site	probably null
R1517:Golga2	UTSW	2	32305984	nonsense	probably null
R1522:Golga2	UTSW	2	32302204	missense	probably benign	0.01
R1599:Golga2	UTSW	2	32303173	missense	probably benign	0.00
R1702:Golga2	UTSW	2	32299275	missense	probably damaging	1.00
R1716:Golga2	UTSW	2	32302897	missense	probably damaging	1.00
R1777:Golga2	UTSW	2	32305470	splice site	probably null
R1781:Golga2	UTSW	2	32306576	missense	probably damaging	1.00
R2229:Golga2	UTSW	2	32306465	missense	probably benign	0.06
R2484:Golga2	UTSW	2	32304770	missense	probably benign	0.32
R2972:Golga2	UTSW	2	32305659	missense	probably benign	0.16
R3411:Golga2	UTSW	2	32302942	missense	probably damaging	0.98
R3851:Golga2	UTSW	2	32305611	missense	probably benign	0.30
R3852:Golga2	UTSW	2	32305611	missense	probably benign	0.30
R4130:Golga2	UTSW	2	32288166	missense	probably benign	0.07
R4783:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4784:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4785:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4808:Golga2	UTSW	2	32303214	missense	probably benign	0.00
R5103:Golga2	UTSW	2	32303746	missense	probably benign	0.09
R5261:Golga2	UTSW	2	32304154	missense	probably benign	0.02
R5315:Golga2	UTSW	2	32303761	missense	probably damaging	1.00
R5508:Golga2	UTSW	2	32288187	nonsense	probably null
R5627:Golga2	UTSW	2	32306047	nonsense	probably null
R5921:Golga2	UTSW	2	32297755	missense	probably benign	0.00
R6678:Golga2	UTSW	2	32299060	missense	probably damaging	0.99
R7365:Golga2	UTSW	2	32303001	nonsense	probably null
R7390:Golga2	UTSW	2	32288190	missense
R7395:Golga2	UTSW	2	32305587	missense	possibly damaging	0.94
R7555:Golga2	UTSW	2	32288166	missense	probably benign	0.07
R7640:Golga2	UTSW	2	32306239	missense	probably benign
R8219:Golga2	UTSW	2	32306480	missense	probably damaging	1.00
R8554:Golga2	UTSW	2	32293345	missense	probably damaging	1.00
R9071:Golga2	UTSW	2	32288352	missense	probably damaging	1.00
R9127:Golga2	UTSW	2	32306067	missense
R9214:Golga2	UTSW	2	32305810	missense	probably damaging	1.00
R9537:Golga2	UTSW	2	32288301	unclassified	probably benign
R9643:Golga2	UTSW	2	32303862	missense	probably damaging	0.97
R9716:Golga2	UTSW	2	32299275	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTACAAAGGCACTGCCCTCATTC -3'
(R):5'- GGTCAGCCCAATCAAAGCTTCTCC -3'

Sequencing Primer
(F):5'- GCTGCTTACCAACAGCACTTG -3'
(R):5'- CTTCTCCAAATACATCAACTCTAGTC -3'

Posted On

2013-05-09