Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Golga4'

24560

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgi autoantigen, golgin subfamily a, 4

Synonyms

golgin-245, Olp-1

MMRRC Submission

038501-MU

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0279 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118568993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 52 (R52S)

Ref Sequence

ENSEMBL: ENSMUSP00000148276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000211846]

AlphaFold

Q91VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000084820
AA Change: R2152S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: R2152S

Domain	Start	End	E-Value	Type
low complexity region	10	41	N/A	INTRINSIC
coiled coil region	157	241	N/A	INTRINSIC
internal_repeat_1	271	299	2.93e-5	PROSPERO
low complexity region	339	351	N/A	INTRINSIC
low complexity region	513	532	N/A	INTRINSIC
low complexity region	547	566	N/A	INTRINSIC
low complexity region	705	715	N/A	INTRINSIC
low complexity region	739	755	N/A	INTRINSIC
low complexity region	882	895	N/A	INTRINSIC
SCOP:d1epua_	940	1076	2e-3	SMART
low complexity region	1138	1152	N/A	INTRINSIC
low complexity region	1161	1182	N/A	INTRINSIC
low complexity region	1204	1228	N/A	INTRINSIC
coiled coil region	1283	1496	N/A	INTRINSIC
internal_repeat_2	1500	1525	5.98e-5	PROSPERO
coiled coil region	1541	1715	N/A	INTRINSIC
low complexity region	1756	1778	N/A	INTRINSIC
internal_repeat_1	1811	1839	2.93e-5	PROSPERO
coiled coil region	1844	1883	N/A	INTRINSIC
internal_repeat_2	1899	1924	5.98e-5	PROSPERO
coiled coil region	1933	2160	N/A	INTRINSIC
Grip	2181	2225	1.38e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211838

Predicted Effect

unknown
Transcript: ENSMUST00000211840
AA Change: R1162S

Predicted Effect

probably benign
Transcript: ENSMUST00000211846
AA Change: R52S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212151

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212692

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

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 protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610528J11Rik	A	T	4: 118,529,293	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,179,202		probably benign	Het
Acrbp	T	C	6: 125,053,954		probably null	Het
Acss3	A	G	10: 107,084,871	I126T	possibly damaging	Het
Aff3	T	C	1: 38,535,569	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,409,252	I113V	probably benign	Het
Aplp2	T	C	9: 31,157,790	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,729,702		probably benign	Het
Atp8a1	C	T	5: 67,813,092		probably null	Het
Bhmt	A	G	13: 93,625,464	C104R	probably damaging	Het
Ccdc151	A	G	9: 21,990,247		probably benign	Het
Cct5	T	G	15: 31,591,031	E508A	probably damaging	Het
Celsr1	T	A	15: 85,902,864	E2761D	probably benign	Het
Clstn1	T	C	4: 149,643,674	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,136,929	S232P	probably damaging	Het
Crybb3	T	C	5: 113,079,753		probably null	Het
Csmd1	A	G	8: 16,223,235	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,405,339	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,235,304	D206G	probably damaging	Het
Dnah1	G	T	14: 31,302,375	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,911,789		probably null	Het
Epb42	G	A	2: 121,029,044		probably benign	Het
Etnppl	A	G	3: 130,629,413	R248G	probably damaging	Het
Eya3	T	C	4: 132,719,247	F369L	probably damaging	Het
Fam129a	T	C	1: 151,709,206		probably null	Het
Fam170b	T	C	14: 32,834,068		probably benign	Het
Fli1	A	T	9: 32,461,427	V105D	probably damaging	Het
Fmo1	T	C	1: 162,830,272	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Foxe3	T	C	4: 114,925,568	D149G	probably damaging	Het
Gk5	T	C	9: 96,174,804		probably benign	Het
Gm14226	A	G	2: 155,025,452	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,697,995		noncoding transcript	Het
Hey2	C	A	10: 30,834,010	C249F	probably damaging	Het
Ipo9	A	T	1: 135,420,363		probably benign	Het
Ireb2	C	A	9: 54,886,593	T269K	probably benign	Het
Kansl3	A	G	1: 36,351,969	V274A	probably damaging	Het
Kcnk2	C	T	1: 189,209,972	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,130,696	E903G	probably benign	Het
Lepr	A	G	4: 101,750,344	K253R	probably benign	Het
Lmntd2	T	C	7: 141,213,623		probably benign	Het
Lrrc39	A	T	3: 116,578,303	T240S	probably benign	Het
Lrrc43	A	G	5: 123,497,022		probably null	Het
Maf	T	C	8: 115,705,756	M370V	possibly damaging	Het
Mib2	G	A	4: 155,661,216	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867	T63I	probably damaging	Het
Morc2a	T	A	11: 3,683,989	S700R	probably benign	Het
Mpz	A	G	1: 171,159,929		probably benign	Het
Ncam2	T	C	16: 81,623,337		probably benign	Het
Nudt14	C	T	12: 112,938,417	A123T	probably damaging	Het
Olfr1016	A	T	2: 85,799,535	I245N	possibly damaging	Het
Olfr13	G	A	6: 43,174,758	M257I	probably benign	Het
Olfr239	C	T	17: 33,199,324	T92I	probably benign	Het
Otoa	T	C	7: 121,111,079		probably benign	Het
Pik3cg	G	A	12: 32,204,791	T399I	probably damaging	Het
Pkn3	C	T	2: 30,083,297	A377V	probably benign	Het
Ppan	A	G	9: 20,891,529	N327S	probably benign	Het
Prkca	T	C	11: 108,054,111		probably benign	Het
Prrc2c	A	T	1: 162,715,464	V320E	probably damaging	Het
Ptprq	A	G	10: 107,608,417	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,726,227	R834C	probably damaging	Het
Rbms1	G	T	2: 60,842,410	N44K	probably damaging	Het
Rfwd3	A	C	8: 111,282,733	F404V	probably benign	Het
Rimbp3	G	T	16: 17,209,453	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,093,713	S310P	possibly damaging	Het
Smtn	C	A	11: 3,530,235	V329L	probably damaging	Het
Snapc2	T	C	8: 4,254,979		probably benign	Het
Spam1	A	T	6: 24,800,419	M386L	probably benign	Het
Syne2	A	G	12: 76,095,613	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,892,623	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 52,055,916	N258I	possibly damaging	Het
Trpm4	C	T	7: 45,322,048	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,748,960	H491Q	probably benign	Het
Urgcp	C	T	11: 5,716,989	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,776,375	N294D	probably benign	Het
Wdfy3	A	T	5: 101,868,092	C2606S	probably damaging	Het
Wdr33	T	A	18: 31,888,324	H642Q	unknown	Het
Zbtb46	A	G	2: 181,411,774	S382P	possibly damaging	Het
Zfp217	A	G	2: 170,119,780	I209T	probably benign	Het
Zranb3	T	A	1: 127,963,773	N822I	probably benign	Het

Other mutations in Golga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00711:Golga4	APN	9	118514271	critical splice donor site	probably null
IGL00801:Golga4	APN	9	118538926	missense	probably damaging	0.98
IGL01395:Golga4	APN	9	118535373	missense	probably damaging	1.00
IGL01472:Golga4	APN	9	118532574	missense	probably damaging	1.00
IGL01519:Golga4	APN	9	118527092	missense	probably damaging	1.00
IGL01563:Golga4	APN	9	118527006	splice site	probably benign
IGL02593:Golga4	APN	9	118555566	unclassified	probably benign
IGL02803:Golga4	APN	9	118535460	missense	probably benign
IGL02939:Golga4	APN	9	118535454	missense	probably benign	0.01
IGL02939:Golga4	APN	9	118534632	missense	probably damaging	1.00
IGL03123:Golga4	APN	9	118536885	missense	probably damaging	1.00
IGL03334:Golga4	APN	9	118537233	splice site	probably benign
F5770:Golga4	UTSW	9	118556075	missense	possibly damaging	0.62
F6893:Golga4	UTSW	9	118553457	missense	probably damaging	1.00
PIT4382001:Golga4	UTSW	9	118553453	missense	possibly damaging	0.88
R0179:Golga4	UTSW	9	118560740	critical splice acceptor site	probably null
R0362:Golga4	UTSW	9	118555785	missense	probably benign	0.13
R0973:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R0973:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R0974:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R1128:Golga4	UTSW	9	118548784	missense	probably benign	0.40
R1384:Golga4	UTSW	9	118565651	missense	probably damaging	0.99
R1435:Golga4	UTSW	9	118535440	missense	probably benign	0.00
R1513:Golga4	UTSW	9	118555732	missense	probably benign	0.02
R1818:Golga4	UTSW	9	118572987	missense	probably damaging	1.00
R2083:Golga4	UTSW	9	118532590	missense	probably damaging	1.00
R2243:Golga4	UTSW	9	118556904	missense	probably benign	0.06
R2355:Golga4	UTSW	9	118560742	missense	probably benign	0.00
R2518:Golga4	UTSW	9	118556612	missense	probably damaging	1.00
R2921:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R2922:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R2923:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R3121:Golga4	UTSW	9	118557380	missense	possibly damaging	0.68
R3424:Golga4	UTSW	9	118534647	missense	probably benign	0.16
R3909:Golga4	UTSW	9	118558736	missense	possibly damaging	0.82
R3913:Golga4	UTSW	9	118538971	missense	probably damaging	0.99
R4321:Golga4	UTSW	9	118556435	missense	probably damaging	1.00
R4358:Golga4	UTSW	9	118551878	missense	probably benign	0.16
R4483:Golga4	UTSW	9	118514186	missense	probably damaging	1.00
R4515:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4518:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4519:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4545:Golga4	UTSW	9	118556845	missense	probably damaging	1.00
R4546:Golga4	UTSW	9	118556845	missense	probably damaging	1.00
R4580:Golga4	UTSW	9	118557259	missense	probably benign	0.00
R4918:Golga4	UTSW	9	118558145	missense	probably damaging	1.00
R5007:Golga4	UTSW	9	118558300	missense	probably benign
R5045:Golga4	UTSW	9	118565656	missense	probably benign
R5232:Golga4	UTSW	9	118506558	critical splice donor site	probably null
R5256:Golga4	UTSW	9	118556501	missense	possibly damaging	0.93
R5502:Golga4	UTSW	9	118559057	nonsense	probably null
R5567:Golga4	UTSW	9	118558183	missense	probably damaging	1.00
R5576:Golga4	UTSW	9	118553534	missense	probably benign	0.13
R5771:Golga4	UTSW	9	118558283	missense	probably damaging	0.96
R5807:Golga4	UTSW	9	118527130	missense	probably damaging	0.99
R5860:Golga4	UTSW	9	118558106	missense	probably damaging	1.00
R6012:Golga4	UTSW	9	118559696	missense	possibly damaging	0.90
R6285:Golga4	UTSW	9	118558627	nonsense	probably null
R6299:Golga4	UTSW	9	118557370	missense	probably benign	0.03
R6467:Golga4	UTSW	9	118536792	missense	probably damaging	1.00
R6552:Golga4	UTSW	9	118514231	missense	probably damaging	1.00
R6688:Golga4	UTSW	9	118514210	missense	possibly damaging	0.66
R6965:Golga4	UTSW	9	118548779	missense	probably damaging	1.00
R6987:Golga4	UTSW	9	118558532	missense	probably benign
R7212:Golga4	UTSW	9	118536840	missense	possibly damaging	0.80
R7426:Golga4	UTSW	9	118559495	missense	probably benign
R7431:Golga4	UTSW	9	118559731	missense	probably damaging	1.00
R7641:Golga4	UTSW	9	118557575	missense	probably benign	0.05
R7727:Golga4	UTSW	9	118548702	missense	probably damaging	1.00
R7729:Golga4	UTSW	9	118556063	missense	possibly damaging	0.51
R7811:Golga4	UTSW	9	118532575	missense	probably damaging	1.00
R7849:Golga4	UTSW	9	118559311	missense	possibly damaging	0.93
R7891:Golga4	UTSW	9	118556366	missense	probably damaging	1.00
R7976:Golga4	UTSW	9	118536768	missense	possibly damaging	0.49
R8275:Golga4	UTSW	9	118532559	missense	probably damaging	1.00
R8378:Golga4	UTSW	9	118558322	missense	probably benign	0.03
R8514:Golga4	UTSW	9	118555796	missense	possibly damaging	0.47
R8698:Golga4	UTSW	9	118555961	missense	probably damaging	0.97
R8856:Golga4	UTSW	9	118556711	missense	probably damaging	0.98
R9227:Golga4	UTSW	9	118556873	missense	possibly damaging	0.94
R9282:Golga4	UTSW	9	118556825	missense	probably damaging	1.00
RF022:Golga4	UTSW	9	118557989	missense	probably damaging	1.00
V7583:Golga4	UTSW	9	118556075	missense	possibly damaging	0.62

Predicted Primers

Posted On

2013-04-16