Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Golga3'

478085

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

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110205777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 934 (S934P)

Ref Sequence

ENSEMBL: ENSMUSP00000031477 (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: S934P

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

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: S934P

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: S894P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: S894P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199123

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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 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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,198,434	V499M	possibly damaging	Het
Aff4	T	C	11: 53,404,357	S795P	probably damaging	Het
Ank	G	A	15: 27,562,733	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,441,442	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,533,016	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,823,648	Y1856N	probably damaging	Het
Atf3	T	C	1: 191,177,275	T66A	probably benign	Het
Atf7ip	T	C	6: 136,561,388	C548R	probably damaging	Het
Bag6	A	G	17: 35,145,176	T841A	probably damaging	Het
Bbof1	A	T	12: 84,426,856	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,053,142	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,986,652	N874K	possibly damaging	Het
Calr4	G	A	4: 109,238,982		probably null	Het
Camk1d	T	C	2: 5,313,101	I248V	possibly damaging	Het
Ccdc130	G	A	8: 84,258,675	P322S	probably benign	Het
Ccdc177	G	A	12: 80,757,386	R705C	unknown	Het
Cdk18	C	T	1: 132,118,849		probably null	Het
Cers4	A	G	8: 4,515,565	S4G	probably benign	Het
Cfap54	A	G	10: 92,964,534	V1604A	probably benign	Het
Chd8	C	T	14: 52,203,915	G907S	probably benign	Het
Cnksr3	G	A	10: 7,126,746	Q149*	probably null	Het
Cntd1	T	C	11: 101,285,731	V218A	possibly damaging	Het
Cog7	A	T	7: 121,949,886	V384E	probably damaging	Het
Col5a2	A	G	1: 45,502,898	V6A	unknown	Het
Col7a1	T	C	9: 108,965,078		probably null	Het
Cpsf6	T	A	10: 117,367,961	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,898,916	T379A	probably benign	Het
Ddx46	T	C	13: 55,652,919	S296P	probably damaging	Het
Dmbt1	A	G	7: 131,050,012	D328G	probably damaging	Het
Dnah8	T	G	17: 30,787,185	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 78,059,731	S368R	probably null	Het
Egfr	A	G	11: 16,904,434	K869E	probably damaging	Het
Ehd1	G	A	19: 6,297,694	M359I	probably benign	Het
F5	A	T	1: 164,195,570	T1566S	probably benign	Het
Fam207a	A	G	10: 77,490,016	V154A	probably benign	Het
Flrt2	T	C	12: 95,778,951	I21T	probably benign	Het
Galnt1	T	A	18: 24,271,755	I383K	probably benign	Het
Ghdc	G	T	11: 100,766,834	A523D	probably damaging	Het
Gm24022	A	G	12: 113,429,779		probably benign	Het
Gpr135	T	A	12: 72,070,508	T162S	probably benign	Het
Gucd1	G	A	10: 75,517,202		probably null	Het
Hcrtr2	T	A	9: 76,230,604	I410F	probably benign	Het
Ick	T	C	9: 78,131,519	S17P	probably damaging	Het
Igkv6-15	T	C	6: 70,406,649	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,733,104	Y57F	probably damaging	Het
Irak4	A	G	15: 94,558,273	E247G	possibly damaging	Het
Kank3	T	C	17: 33,821,772	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,136,610	S667T	probably damaging	Het
Klhl6	T	G	16: 19,946,991	*620C	probably null	Het
Lct	A	G	1: 128,308,241	L343P	probably damaging	Het
Lgr6	G	T	1: 134,990,632	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,491,420		probably null	Het
Lin7a	G	T	10: 107,382,669	G25*	probably null	Het
Lmnb2	G	A	10: 80,918,112	T36M	probably damaging	Het
Manba	T	C	3: 135,567,630	F775S	probably benign	Het
March6	A	G	15: 31,465,322	V812A	probably damaging	Het
Megf6	T	A	4: 154,268,060	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,761,340	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,653,701	M59V	probably damaging	Het
Naa35	T	C	13: 59,625,531	I100T	possibly damaging	Het
Nox4	A	T	7: 87,360,803	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,260,532	Y441C	probably damaging	Het
Olfr1329	C	A	4: 118,917,243	V75F	probably damaging	Het
Olfr351	T	C	2: 36,860,070	T93A	probably benign	Het
Olfr984	G	A	9: 40,101,227	H88Y	probably benign	Het
Onecut3	A	G	10: 80,495,320	T105A	unknown	Het
Pabpc1l	A	G	2: 164,042,518	S392G	probably benign	Het
Pan3	T	A	5: 147,526,682		probably null	Het
Pcdha4	G	A	18: 36,954,948	S728N	probably benign	Het
Pds5a	T	C	5: 65,696,785	D38G	probably damaging	Het
Pgm2l1	A	G	7: 100,272,376	I605V	probably benign	Het
Phip	T	C	9: 82,896,019		probably null	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Ppig	T	A	2: 69,741,486	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,022,308	L313*	probably null	Het
Ppp4c	A	G	7: 126,787,537	F126S	probably damaging	Het
Ptger2	C	A	14: 44,989,367	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,347,806	E506D	probably damaging	Het
Rdh12	G	A	12: 79,212,742	G133R	probably damaging	Het
Rims2	A	T	15: 39,452,428	D610V	probably benign	Het
Saa1	T	A	7: 46,740,708	Y122F	probably damaging	Het
Sept10	A	T	10: 59,176,989	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,408,739	D23E	probably benign	Het
Serpinb11	A	G	1: 107,376,868	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,463,779	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,022,620	N225K	probably benign	Het
Slc4a1	T	A	11: 102,351,503	I797F	probably benign	Het
Spic	A	G	10: 88,675,899	M165T	possibly damaging	Het
Timm44	A	T	8: 4,275,886	M1K	probably null	Het
Tmc6	A	G	11: 117,770,784	L572P	probably benign	Het
Tnc	G	A	4: 63,984,489	T1517I	probably damaging	Het
Tnc	G	A	4: 64,000,062	T1204M	probably benign	Het
Trip11	A	T	12: 101,884,910	L680*	probably null	Het
Trps1	T	A	15: 50,661,307	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,325,068	V330G	probably damaging	Het
Upf1	A	G	8: 70,334,700	S835P	probably damaging	Het
Wdr64	A	G	1: 175,792,959		probably null	Het
Zbtb40	A	G	4: 136,996,150	L643P	probably damaging	Het
Zc3h18	A	T	8: 122,383,520	D36V	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
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
R7078:Golga3	UTSW	5	110193087	missense	probably damaging	0.99
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
R9755:Golga3	UTSW	5	110192981	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- TAATGGCCTGGAAATAGTGGTC -3'
(R):5'- TGTTAGGAACACAGCAACACCG -3'

Sequencing Primer
(F):5'- GCCTGGAAATAGTGGTCAAATTTG -3'
(R):5'- GAGGACTATCCAAACTAATCCCTCTC -3'

Posted On

2017-05-23