Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Golga2'

719722

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgi autoantigen, golgin subfamily a, 2

Synonyms

GM130

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32287384-32307921 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 32288301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050410] [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000113397] [ENSMUST00000113400] [ENSMUST00000129193] [ENSMUST00000139494] [ENSMUST00000140406] [ENSMUST00000183946]

AlphaFold

Q921M4

Predicted Effect

probably benign
Transcript: ENSMUST00000050410

SMART Domains

Protein: ENSMUSP00000057512
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	9	89	7.5e-28	PFAM

Predicted Effect

probably benign
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: 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: 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 benign
Transcript: ENSMUST00000113397

SMART Domains

Protein: ENSMUSP00000109024
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	1	59	9.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113400

SMART Domains

Protein: ENSMUSP00000109027
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	45	120	1.5e-26	PFAM

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: ENSMUST00000139494

SMART Domains

Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	55	61	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140406

SMART Domains

Protein: ENSMUSP00000139369
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	47	120	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147707

SMART Domains

Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
coiled coil region	165	205	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183946

SMART Domains

Protein: ENSMUSP00000139299
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	9	89	7.5e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,317,239	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Hapln2	T	A	3: 88,024,473		probably null	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Mier1	A	G	4: 103,162,561	N494S	probably benign	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Smu1	A	G	4: 40,755,671	S65P	probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfp112	T	C	7: 24,127,087	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596	T355S		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
R0265:Golga2	UTSW	2	32304952	splice site	probably null
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
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'- GCAGCTCTCGTCGTTAACTC -3'
(R):5'- GCTGAGAAGACTTCACTGGG -3'

Sequencing Primer
(F):5'- GTCGTTAACTCCACCCGTCG -3'
(R):5'- CGTGTGTCTCGGGAAAGACTC -3'

Posted On

2022-07-18