Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Golga4'

595719

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

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118556063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 751 (H751R)

Ref Sequence

ENSEMBL: ENSMUSP00000081880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097]

AlphaFold

Q91VW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084820
AA Change: H751R

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: H751R

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

probably benign
Transcript: ENSMUST00000211840

Predicted Effect

probably benign
Transcript: ENSMUST00000212097
AA Change: H723R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,741,623	M794I	not run	Het
1810024B03Rik	T	G	2: 127,186,790	D163A	possibly damaging	Het
Abce1	A	T	8: 79,687,908	I454N	probably damaging	Het
Acaca	A	G	11: 84,371,513	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,992,124	T19M	probably benign	Het
Agmo	T	A	12: 37,414,975	S417T	probably benign	Het
Akap8l	T	C	17: 32,333,094	E403G	probably damaging	Het
Art5	C	T	7: 102,098,504	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,184,560	T681A	probably benign	Het
Atp11b	A	G	3: 35,778,107	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,491,766	E80G	probably benign	Het
AW551984	G	A	9: 39,599,775	P172L	possibly damaging	Het
Bace1	C	T	9: 45,858,445	R296C	probably damaging	Het
Ccser1	T	A	6: 61,311,856	H334Q	probably benign	Het
Chtf18	C	T	17: 25,723,517	R449H	probably damaging	Het
Cit	A	G	5: 115,984,822	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,721,648	I524T	probably benign	Het
Dctn1	T	A	6: 83,183,060	I94N	probably damaging	Het
Ddx58	T	A	4: 40,206,034	I853F	possibly damaging	Het
Dnhd1	A	T	7: 105,705,265	D3078V	probably damaging	Het
Dock7	G	A	4: 99,055,446	P520S		Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Eprs	T	A	1: 185,413,169	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 45,095,373	T224A	probably damaging	Het
Flt1	T	A	5: 147,700,367	T39S	probably benign	Het
Fxyd1	T	C	7: 31,053,471	Y33C	probably damaging	Het
Gab2	T	A	7: 97,301,426	V442E	probably damaging	Het
Ganab	A	G	19: 8,914,712	D800G	probably benign	Het
Gata4	C	A	14: 63,240,737	A138S	probably benign	Het
Hist1h1t	A	G	13: 23,696,472	R203G	possibly damaging	Het
Htra4	A	G	8: 25,037,077	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,184,970	Y72N	probably damaging	Het
Iqsec3	T	C	6: 121,383,981	K973E	probably damaging	Het
Khdc1b	C	A	1: 21,384,841	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Kyat3	A	G	3: 142,726,305		probably null	Het
Lrba	T	A	3: 86,318,167	V666E	probably damaging	Het
Mettl25	T	A	10: 105,766,010	Y528F	probably benign	Het
Mms19	A	T	19: 41,952,465	Y619*	probably null	Het
Nlrp12	A	C	7: 3,228,388		probably null	Het
Nol10	C	T	12: 17,424,675	L623F	possibly damaging	Het
Oas1g	A	G	5: 120,886,000	F82S	probably damaging	Het
Olfr1537	G	A	9: 39,238,250	P58L	probably benign	Het
Olfr195	C	T	16: 59,149,207	A119V	probably damaging	Het
Olfr335-ps	T	G	2: 36,301,760	S74A	probably benign	Het
Oxr1	G	A	15: 41,823,467	E582K	probably damaging	Het
Pdia3	A	G	2: 121,432,357	D268G	possibly damaging	Het
Pramef12	T	C	4: 144,392,864	S378G	probably damaging	Het
Rcor3	A	G	1: 192,101,778	Y387H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Rsl1	T	C	13: 67,182,220	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,495,540	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985	A24V	probably benign	Het
Slc22a8	A	G	19: 8,593,959	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,214,847	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,497,523	T599S	probably damaging	Het
St18	T	A	1: 6,802,537	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,503	R86K	probably damaging	Het
Tectb	G	A	19: 55,192,672	V148M		Het
Tgfb2	C	A	1: 186,630,757	G290V	possibly damaging	Het
Tgm7	T	C	2: 121,093,710	H577R	probably benign	Het
Tle2	T	C	10: 81,587,147	S460P	probably damaging	Het
Tmem221	C	A	8: 71,558,802	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 60,974,734	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,491,507	K75E	probably benign	Het
Trip10	G	A	17: 57,262,442	G488S	probably damaging	Het
Usp34	A	C	11: 23,449,268	K2419T		Het
Vps13d	T	C	4: 145,075,052	Q3532R		Het
Vps4a	A	T	8: 107,040,897	I163L	probably damaging	Het
Wrn	T	C	8: 33,324,426	H330R	probably benign	Het
Xpr1	T	C	1: 155,312,872	I341V	probably benign	Het
Zfyve9	T	C	4: 108,691,776	E105G	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
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
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
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'- AAGACCTTGGAGAAGCTTGAC -3'
(R):5'- GCTCAGAGTGCAAGAGATCTAG -3'

Sequencing Primer
(F):5'- CCTTGGAGAAGCTTGACAAGAAG -3'
(R):5'- AGATCTAGTTTGGCCAAGGC -3'

Posted On

2019-11-12