Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Golga4'

204620

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

039846-MU

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118572987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 91 (V91G)

Ref Sequence

ENSEMBL: ENSMUSP00000148276 (fasta)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084820
AA Change: V2191G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: V2191G

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: ENSMUST00000211826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211838

Predicted Effect

unknown
Transcript: ENSMUST00000211840
AA Change: V1201G

Predicted Effect

probably damaging
Transcript: ENSMUST00000211846
AA Change: V91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212151

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212692

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,858		probably null	Het
Adam6b	T	A	12: 113,491,256	N564K	probably benign	Het
Ahi1	A	G	10: 20,988,562	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,420,425	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,886,831	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,121	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,471,704	N561S	possibly damaging	Het
Apob	A	G	12: 8,006,834	N1739S	probably damaging	Het
Apob	A	G	12: 8,013,064	T236A	possibly damaging	Het
Birc6	G	A	17: 74,649,849	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,291,874	F778L	possibly damaging	Het
Capn2	T	A	1: 182,472,597	K609N	probably benign	Het
Car9	G	T	4: 43,512,439		probably null	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccl20	A	G	1: 83,117,808	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,745,576	T106I	probably damaging	Het
Cebpz	A	G	17: 78,935,376	L283P	probably damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Clec4e	T	A	6: 123,285,493	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,585,737		probably null	Het
Cyp2j11	A	T	4: 96,297,739	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,315,636	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Denr	T	A	5: 123,917,220	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,523,569		probably null	Het
Dnaaf3	G	T	7: 4,523,570	L503M	probably benign	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Ehd4	C	T	2: 120,102,404	W180*	probably null	Het
Ephb2	A	G	4: 136,655,336	S984P	probably benign	Het
Eva1a	T	C	6: 82,071,144	M1T	probably null	Het
Fam90a1a	C	G	8: 21,963,771	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 21,963,772	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,448	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,095,346	L612Q	probably damaging	Het
Fubp1	T	A	3: 152,222,169	N419K	probably damaging	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gm11639	T	A	11: 104,721,507	L652Q	probably benign	Het
Gm4847	T	A	1: 166,638,219	H267L	probably damaging	Het
Hip1r	T	C	5: 123,995,955		probably null	Het
Ice2	A	G	9: 69,432,101	S967G	probably benign	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Impdh2	T	G	9: 108,563,212		probably null	Het
Inmt	C	A	6: 55,173,419	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,397,874	S637G	probably benign	Het
Kansl1	T	C	11: 104,342,457	H748R	possibly damaging	Het
Kif28	T	C	1: 179,705,754	K541E	possibly damaging	Het
Kifc1	G	A	17: 33,884,711	R195C	probably benign	Het
Kifc2	T	C	15: 76,666,081	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,737,710	Y71H	probably damaging	Het
Ly75	T	G	2: 60,311,777	T1330P	probably damaging	Het
Macf1	A	G	4: 123,376,417	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,261,284	I198T	possibly damaging	Het
Morc3	A	G	16: 93,855,510	Y367C	probably damaging	Het
Mpp6	T	G	6: 50,163,431	F144V	probably benign	Het
Mtfr1	A	G	3: 19,215,673	T162A	probably damaging	Het
Myrip	C	T	9: 120,388,162	S49L	probably damaging	Het
Nup153	A	T	13: 46,681,637	N1397K	possibly damaging	Het
Olfr196	T	C	16: 59,167,880	K88E	probably benign	Het
Olfr883	T	C	9: 38,026,507	S234P	probably damaging	Het
Olfr935	T	C	9: 38,994,606	I276M	possibly damaging	Het
Olfr986	T	C	9: 40,187,262	V49A	probably benign	Het
Pabpc2	G	T	18: 39,774,110	V143L	probably damaging	Het
Panx3	T	C	9: 37,664,026	K180R	probably benign	Het
Patj	G	A	4: 98,623,648	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,126,892	K651*	probably null	Het
Pde4c	A	G	8: 70,726,989	H63R	probably benign	Het
Pdha2	T	A	3: 141,211,199	K183*	probably null	Het
Pkd1l3	T	A	8: 109,648,406	C1504S	probably benign	Het
Plbd2	A	T	5: 120,487,509		probably null	Het
Poteg	G	A	8: 27,450,167	W121*	probably null	Het
Prf1	C	A	10: 61,302,983	T240N	probably damaging	Het
Ptprf	A	G	4: 118,209,871	Y1883H	probably damaging	Het
Puf60	T	C	15: 76,071,474	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,828,424	I281M	probably benign	Het
Rufy1	T	C	11: 50,414,572	I305V	probably benign	Het
Shisa9	A	C	16: 12,267,562	Q329P	probably damaging	Het
Siglech	G	A	7: 55,768,584	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,253,343	Y303F	probably benign	Het
Snx6	C	T	12: 54,783,474	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,926,454	Y310C	probably damaging	Het
Top1	T	A	2: 160,715,723	L575Q	probably damaging	Het
Usp16	C	T	16: 87,479,132	R452*	probably null	Het
Utrn	A	G	10: 12,709,964		probably null	Het
Vps13b	G	A	15: 35,877,577	G2899E	probably benign	Het
Wdr78	A	G	4: 103,072,657	V56A	possibly damaging	Het
Wipi2	T	A	5: 142,658,208	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,137,525	E228A	probably damaging	Het
Zfp26	T	C	9: 20,442,191	T101A	probably benign	Het
Zfp593	A	T	4: 134,245,083		probably null	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zfp948	G	A	17: 21,584,807	V20M	probably damaging	Het
Zranb3	A	T	1: 128,017,556		probably null	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
R0279:Golga4	UTSW	9	118568993	missense	probably benign	0.00
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
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

PCR Primer
(F):5'- TAGTGTGAGCATGTGCACAGC -3'
(R):5'- CTATCTGCAGGGCCCTAAAACC -3'

Sequencing Primer
(F):5'- CAGCTAATGGGGCACAAGC -3'
(R):5'- GGGCCCTAAAACCTCCTTAAAATAC -3'

Posted On

2014-06-23