Mutagenetix > Incidental Mutations

Incidental Mutation 'R7078:Golga3'

549335

Institutional Source

Beutler Lab

Gene Symbol

Golga3

Ensembl Gene

ENSMUSG00000029502

Gene Name

golgi autoantigen, golgin subfamily a, 3

Synonyms

repro27, G1-499-14, Mea-2, 5430416E01Rik, Mea2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110193087 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 549 (Q549R)

Ref Sequence

ENSEMBL: ENSMUSP00000108131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031477] [ENSMUST00000112512]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031477
AA Change: Q589R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: Q589R

Domain	Start	End	E-Value	Type
internal_repeat_1	24	49	7.67e-5	PROSPERO
internal_repeat_1	91	116	7.67e-5	PROSPERO
low complexity region	232	245	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC
low complexity region	312	321	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	422	441	N/A	INTRINSIC
internal_repeat_2	444	484	7.67e-5	PROSPERO
low complexity region	534	548	N/A	INTRINSIC
internal_repeat_2	587	624	7.67e-5	PROSPERO
coiled coil region	656	1379	N/A	INTRINSIC
coiled coil region	1417	1453	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112512
AA Change: Q549R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: Q549R

Domain	Start	End	E-Value	Type
internal_repeat_2	3	24	9.29e-5	PROSPERO
low complexity region	192	205	N/A	INTRINSIC
low complexity region	229	248	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
low complexity region	382	401	N/A	INTRINSIC
internal_repeat_1	404	444	4.91e-5	PROSPERO
low complexity region	494	508	N/A	INTRINSIC
internal_repeat_1	547	584	4.91e-5	PROSPERO
low complexity region	705	717	N/A	INTRINSIC
low complexity region	792	809	N/A	INTRINSIC
low complexity region	1105	1117	N/A	INTRINSIC
low complexity region	1220	1228	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
internal_repeat_2	1333	1359	9.29e-5	PROSPERO
coiled coil region	1377	1413	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile. Male mice homozygous for an ENU-induced mutation exhibit infertility with low sperm concentration, poor motility and abnormal shape. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,410,709	N210S	probably benign	Het
Acaca	G	A	11: 84,263,312	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,602,070	H20L	probably benign	Het
Ankrd52	T	A	10: 128,383,657	C487S	probably benign	Het
Ap1s3	T	C	1: 79,625,128	E54G	probably benign	Het
Arglu1	A	C	8: 8,667,361	M236R	probably benign	Het
Baz1b	T	A	5: 135,217,439	F581I	probably benign	Het
Bbox1	T	G	2: 110,292,539	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,423,823	V69E	probably damaging	Het
Brinp3	C	T	1: 146,514,889	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 50,792,267	K113*	probably null	Het
Cep128	T	C	12: 91,234,104	I830M	probably damaging	Het
Ces2f	C	T	8: 104,954,652	T541I	probably damaging	Het
Chsy3	C	A	18: 59,176,077	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,378,271	T112P	probably damaging	Het
Dcc	T	A	18: 71,547,398	K589I	probably benign	Het
Depdc1b	T	A	13: 108,386,971	I460K	possibly damaging	Het
Dlst	T	C	12: 85,110,931	F12S	probably benign	Het
Dnah1	G	C	14: 31,297,110	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,748,480	Q438R	possibly damaging	Het
Dusp4	C	A	8: 34,807,911	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,423,958	S512P	probably benign	Het
Eya1	C	T	1: 14,231,412		probably null	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fzr1	T	A	10: 81,368,629	D379V	probably damaging	Het
Gk2	T	A	5: 97,456,336	E214D	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gmnc	A	T	16: 26,960,522	V251E	probably benign	Het
Gsdmd	T	G	15: 75,864,355	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,645,742	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,697,939	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,241,151	V29A	probably damaging	Het
Hecw1	A	T	13: 14,434,459	M1K	probably null	Het
Hmcn1	T	C	1: 150,860,367	D117G	probably damaging	Het
Ifnab	T	A	4: 88,691,113	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,747,224	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,069,461	P103L	probably damaging	Het
Macf1	T	G	4: 123,432,143	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,563,139	E348G	probably damaging	Het
Med25	G	T	7: 44,884,901	A280D	probably damaging	Het
Mep1b	C	A	18: 21,100,051	A703E	probably benign	Het
Morn5	T	A	2: 36,054,978	N71K	probably benign	Het
Mtmr10	T	A	7: 64,320,627	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756	V302L	probably benign	Het
Notch4	A	G	17: 34,582,546	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,579,012	M88K	possibly damaging	Het
Olfr1452-ps1	A	T	19: 13,016,733	D170V	possibly damaging	Het
Olfr212	T	A	6: 116,516,671	L298Q	probably damaging	Het
Olfr361	A	G	2: 37,085,596	S51P	possibly damaging	Het
Olfr967	A	T	9: 39,750,491	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,659,885	N694S	probably benign	Het
Pecam1	T	A	11: 106,688,947	T430S	probably benign	Het
Plaa	T	G	4: 94,574,051	T530P	probably benign	Het
Ppfia3	G	T	7: 45,360,595	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,866,313	S331P	probably benign	Het
Prg4	T	C	1: 150,458,263	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,213,519	D1003V	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rasef	T	C	4: 73,780,389	I12V	probably benign	Het
Robo2	T	G	16: 74,352,616	Y108S	probably damaging	Het
Rp1	T	A	1: 4,206,791	E762V	unknown	Het
Rsg1	A	T	4: 141,219,848	Y180F	probably benign	Het
Rsrc1	T	C	3: 66,994,654	S46P	unknown	Het
Rttn	A	T	18: 89,009,422	T554S	probably benign	Het
Sall3	C	T	18: 80,974,099	V205M	probably damaging	Het
Scn3a	C	A	2: 65,497,600	V849L	probably damaging	Het
Sec23a	A	G	12: 58,992,283	C277R	probably benign	Het
Sf3b3	C	T	8: 110,813,007	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,332,384	D113G	unknown	Het
Slc22a22	C	T	15: 57,263,480	M64I	probably benign	Het
Slc5a11	C	T	7: 123,258,446	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,593,069	F449S	probably damaging	Het
Sspo	C	T	6: 48,460,379	T1357M	probably damaging	Het
Styx	C	T	14: 45,372,416	T179I	probably benign	Het
Syt7	A	T	19: 10,435,599	T297S	probably benign	Het
Tbx19	T	A	1: 165,160,566		probably benign	Het
Tg	T	A	15: 66,673,543	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,249,238	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmem219	T	A	7: 126,891,803	T161S	probably damaging	Het
Tox2	T	A	2: 163,320,581	L68H		Het
Trim5	T	A	7: 104,278,474	D153V	possibly damaging	Het
Ttn	T	C	2: 76,750,307	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,751,809	N22913K	probably damaging	Het
Ubr2	A	C	17: 46,955,853	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 86,166,360	S99P	probably damaging	Het
Wdr83	T	C	8: 85,076,051	D219G	probably damaging	Het
Wdr90	C	T	17: 25,849,649	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,460,755	L62F	probably damaging	Het

Other mutations in Golga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Golga3	APN	5	110220887	missense	probably damaging	1.00
IGL00594:Golga3	APN	5	110204975	missense	probably benign	0.37
IGL00672:Golga3	APN	5	110212244	missense	probably damaging	1.00
IGL00821:Golga3	APN	5	110204933	missense	possibly damaging	0.74
IGL01015:Golga3	APN	5	110187717	missense	probably benign	0.04
IGL01408:Golga3	APN	5	110217809	critical splice acceptor site	probably null
IGL01651:Golga3	APN	5	110192905	critical splice acceptor site	probably null
IGL02617:Golga3	APN	5	110188746	missense	probably benign	0.26
cles	UTSW	5	110188707	nonsense	probably null
tenta	UTSW	5	110218130	nonsense	probably null
PIT4544001:Golga3	UTSW	5	110188690	missense	possibly damaging	0.94
R0058:Golga3	UTSW	5	110202777	missense	possibly damaging	0.85
R0058:Golga3	UTSW	5	110202777	missense	possibly damaging	0.85
R0591:Golga3	UTSW	5	110188743	missense	probably damaging	1.00
R1219:Golga3	UTSW	5	110184349	nonsense	probably null
R1297:Golga3	UTSW	5	110204843	missense	probably benign	0.04
R1299:Golga3	UTSW	5	110204843	missense	probably benign	0.04
R1465:Golga3	UTSW	5	110209878	missense	probably damaging	1.00
R1465:Golga3	UTSW	5	110209878	missense	probably damaging	1.00
R1589:Golga3	UTSW	5	110181783	missense	probably damaging	1.00
R1795:Golga3	UTSW	5	110207627	missense	possibly damaging	0.47
R1992:Golga3	UTSW	5	110192973	missense	probably damaging	0.96
R2116:Golga3	UTSW	5	110187395	missense	probably damaging	0.97
R2130:Golga3	UTSW	5	110202939	critical splice donor site	probably null
R2153:Golga3	UTSW	5	110187990	splice site	probably null
R2158:Golga3	UTSW	5	110187361	missense	probably damaging	1.00
R2357:Golga3	UTSW	5	110202648	missense	probably damaging	1.00
R2397:Golga3	UTSW	5	110205877	splice site	probably benign
R2418:Golga3	UTSW	5	110201868	missense	probably damaging	1.00
R2495:Golga3	UTSW	5	110207596	missense	probably damaging	0.99
R2763:Golga3	UTSW	5	110204895	missense	possibly damaging	0.87
R3276:Golga3	UTSW	5	110201998	splice site	probably benign
R3614:Golga3	UTSW	5	110220908	missense	probably damaging	1.00
R4520:Golga3	UTSW	5	110203751	nonsense	probably null
R5001:Golga3	UTSW	5	110205777	missense	probably damaging	1.00
R5046:Golga3	UTSW	5	110192940	missense	probably damaging	0.99
R5157:Golga3	UTSW	5	110202671	missense	probably benign	0.00
R5191:Golga3	UTSW	5	110184307	intron	probably benign
R5376:Golga3	UTSW	5	110220945	critical splice donor site	probably null
R5399:Golga3	UTSW	5	110205024	missense	probably damaging	0.96
R5407:Golga3	UTSW	5	110201990	nonsense	probably null
R5884:Golga3	UTSW	5	110216895	missense	probably damaging	1.00
R6087:Golga3	UTSW	5	110204946	missense	probably damaging	0.99
R6526:Golga3	UTSW	5	110204895	missense	probably damaging	0.98
R6651:Golga3	UTSW	5	110218130	nonsense	probably null
R7041:Golga3	UTSW	5	110208584	critical splice donor site	probably null
R7057:Golga3	UTSW	5	110188663	missense	probably damaging	1.00
R7114:Golga3	UTSW	5	110202712	missense	probably benign	0.01
R7190:Golga3	UTSW	5	110209855	missense	probably damaging	1.00
R7405:Golga3	UTSW	5	110208446	missense	probably damaging	0.97
R7528:Golga3	UTSW	5	110212232	missense	probably damaging	1.00
R7638:Golga3	UTSW	5	110205828	missense	probably benign
R7760:Golga3	UTSW	5	110205850	missense	probably benign	0.39
R8099:Golga3	UTSW	5	110188707	nonsense	probably null
R8144:Golga3	UTSW	5	110185879	missense	probably damaging	0.99
R8558:Golga3	UTSW	5	110208555	missense	possibly damaging	0.83
R8708:Golga3	UTSW	5	110202855	missense	probably benign	0.05
R8887:Golga3	UTSW	5	110205760	intron	probably benign
R9039:Golga3	UTSW	5	110204933	missense	probably benign	0.00
R9045:Golga3	UTSW	5	110193097	missense	probably benign	0.00
R9057:Golga3	UTSW	5	110184599	missense	probably damaging	1.00
R9100:Golga3	UTSW	5	110189678	missense	probably benign	0.31
R9112:Golga3	UTSW	5	110185891	missense	probably benign	0.08
R9198:Golga3	UTSW	5	110207753	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CACTTTCAGTGCATGACCTG -3'
(R):5'- GGAAGGCATGAGAAGCTCTC -3'

Sequencing Primer
(F):5'- GCGGCAGCAGATGACAGC -3'
(R):5'- ATGGGTATTGGCTGTAGAGTAATCAG -3'

Posted On

2019-05-15