Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Golga3'

669350

Institutional Source

Beutler Lab

Gene Symbol

Golga3

Ensembl Gene

ENSMUSG00000029502

Gene Name

golgin A3

Synonyms

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

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110324723-110374336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110350721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 752 (A752E)

Ref Sequence

ENSEMBL: ENSMUSP00000108131 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031477
AA Change: A792E

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: A792E

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 benign
Transcript: ENSMUST00000112512
AA Change: A752E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: A752E

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,400 (GRCm39)	K230R	probably damaging	Het
Ajm1	C	A	2: 25,467,814 (GRCm39)	R699L	possibly damaging	Het
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Alg11	T	C	8: 22,555,129 (GRCm39)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,394,756 (GRCm39)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,727,344 (GRCm39)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,573,169 (GRCm39)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,343,238 (GRCm39)	T507A	probably benign	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Atad2b	T	A	12: 5,011,253 (GRCm39)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,635,687 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,964,139 (GRCm39)	S1685I	probably damaging	Het
Bptf	T	A	11: 106,964,140 (GRCm39)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,604,416 (GRCm39)	I1437N		Het
Capn1	T	C	19: 6,061,328 (GRCm39)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,805,891 (GRCm39)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,863,095 (GRCm39)	M9I	probably benign	Het
Celf1	T	A	2: 90,840,925 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,425,823 (GRCm39)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,251,020 (GRCm39)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,359,225 (GRCm39)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,036,049 (GRCm39)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,694,704 (GRCm39)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,661,266 (GRCm39)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,343,487 (GRCm39)	Y1610*	probably null	Het
Dock5	A	G	14: 68,004,820 (GRCm39)	V1529A	probably benign	Het
Egfr	G	T	11: 16,817,300 (GRCm39)		probably benign	Het
Exph5	T	A	9: 53,287,096 (GRCm39)	H1392Q	probably benign	Het
Fam78b	A	G	1: 166,906,332 (GRCm39)	K164E	possibly damaging	Het
Fignl2	C	A	15: 100,950,734 (GRCm39)	R516L	unknown	Het
Fndc7	C	T	3: 108,774,528 (GRCm39)	E577K	probably benign	Het
Fryl	T	C	5: 73,289,905 (GRCm39)	E107G	probably benign	Het
Gbp10	A	T	5: 105,368,831 (GRCm39)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,737,723 (GRCm39)	C156S		Het
Gper1	G	T	5: 139,411,690 (GRCm39)	V12L	probably benign	Het
Hmbox1	G	T	14: 65,061,089 (GRCm39)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,705,955 (GRCm39)	I77L	probably benign	Het
Ing4	A	T	6: 125,024,895 (GRCm39)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm39)		probably null	Het
Itpa	T	A	2: 130,517,639 (GRCm39)	V129E	probably damaging	Het
Itpripl1	T	A	2: 126,983,262 (GRCm39)	M287L	probably benign	Het
Klc3	T	C	7: 19,129,784 (GRCm39)	I362V	probably damaging	Het
Ky	T	A	9: 102,402,590 (GRCm39)		probably benign	Het
Lasp1	A	G	11: 97,697,709 (GRCm39)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,300,763 (GRCm39)	M380T	probably benign	Het
Lrp2	T	A	2: 69,289,957 (GRCm39)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 71,070,459 (GRCm39)	L80P	probably damaging	Het
Mcoln3	A	T	3: 145,846,276 (GRCm39)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm39)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,159,751 (GRCm39)	I1267V	probably benign	Het
Mei4	C	A	9: 81,809,595 (GRCm39)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm39)	V809M	probably benign	Het
Mmp17	G	A	5: 129,672,486 (GRCm39)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,218 (GRCm39)	Q36*	probably null	Het
Myo3a	T	A	2: 22,296,607 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,883,943 (GRCm39)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,322,564 (GRCm39)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,068,603 (GRCm39)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,874,758 (GRCm39)		probably null	Het
Or1af1	T	A	2: 37,109,956 (GRCm39)	S152T	probably damaging	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or5b124	T	C	19: 13,611,401 (GRCm39)	S309P	probably benign	Het
Or6c5	T	A	10: 129,074,678 (GRCm39)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,634,063 (GRCm39)	D107G	probably benign	Het
Pde2a	A	G	7: 101,159,588 (GRCm39)	D816G	probably damaging	Het
Phf10	T	A	17: 15,176,261 (GRCm39)	T131S	possibly damaging	Het
Phf11	A	T	14: 59,482,262 (GRCm39)	C164S	probably damaging	Het
Phrf1	A	G	7: 140,812,446 (GRCm39)	D70G	unknown	Het
Piezo2	A	G	18: 63,226,086 (GRCm39)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,596,473 (GRCm39)		probably benign	Het
Plekhh2	A	T	17: 84,882,421 (GRCm39)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm39)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,844,613 (GRCm39)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,618,066 (GRCm39)	H398R	unknown	Het
Rab26	A	T	17: 24,748,772 (GRCm39)	M208K	probably damaging	Het
Rab31	A	C	17: 65,974,859 (GRCm39)		probably benign	Het
Radil	A	G	5: 142,471,204 (GRCm39)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,960,780 (GRCm39)	I65T	probably damaging	Het
Sall1	A	T	8: 89,759,483 (GRCm39)	V207E	probably damaging	Het
Sart3	A	T	5: 113,882,728 (GRCm39)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,457 (GRCm39)	S277T	probably benign	Het
Septin5	A	G	16: 18,443,622 (GRCm39)	V100A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Ski	A	T	4: 155,245,119 (GRCm39)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,673,715 (GRCm39)	D566E	probably benign	Het
Srgap2	G	A	1: 131,273,544 (GRCm39)	Q372*	probably null	Het
Stard9	A	G	2: 120,534,059 (GRCm39)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,345,998 (GRCm39)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,570,191 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,732,632 (GRCm39)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,531,151 (GRCm39)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,696,964 (GRCm39)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,776,108 (GRCm39)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,682,687 (GRCm39)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 85,812,476 (GRCm39)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,689,489 (GRCm39)	V3016L		Het
Wdr11	A	G	7: 129,200,780 (GRCm39)	N77S	probably benign	Het
Wdr17	C	A	8: 55,093,127 (GRCm39)		probably benign	Het
Wrn	T	A	8: 33,782,671 (GRCm39)	N753I	probably damaging	Het
Zan	A	G	5: 137,461,539 (GRCm39)		probably null	Het
Zfat	T	A	15: 67,956,278 (GRCm39)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,312,509 (GRCm39)	S62A	probably benign	Het

Other mutations in Golga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Golga3	APN	5	110,368,753 (GRCm39)	missense	probably damaging	1.00
IGL00594:Golga3	APN	5	110,352,841 (GRCm39)	missense	probably benign	0.37
IGL00672:Golga3	APN	5	110,360,110 (GRCm39)	missense	probably damaging	1.00
IGL00821:Golga3	APN	5	110,352,799 (GRCm39)	missense	possibly damaging	0.74
IGL01015:Golga3	APN	5	110,335,583 (GRCm39)	missense	probably benign	0.04
IGL01408:Golga3	APN	5	110,365,675 (GRCm39)	critical splice acceptor site	probably null
IGL01651:Golga3	APN	5	110,340,771 (GRCm39)	critical splice acceptor site	probably null
IGL02617:Golga3	APN	5	110,336,612 (GRCm39)	missense	probably benign	0.26
cles	UTSW	5	110,336,573 (GRCm39)	nonsense	probably null
tenta	UTSW	5	110,365,996 (GRCm39)	nonsense	probably null
PIT4544001:Golga3	UTSW	5	110,336,556 (GRCm39)	missense	possibly damaging	0.94
R0058:Golga3	UTSW	5	110,350,643 (GRCm39)	missense	possibly damaging	0.85
R0058:Golga3	UTSW	5	110,350,643 (GRCm39)	missense	possibly damaging	0.85
R0591:Golga3	UTSW	5	110,336,609 (GRCm39)	missense	probably damaging	1.00
R1219:Golga3	UTSW	5	110,332,215 (GRCm39)	nonsense	probably null
R1297:Golga3	UTSW	5	110,352,709 (GRCm39)	missense	probably benign	0.04
R1299:Golga3	UTSW	5	110,352,709 (GRCm39)	missense	probably benign	0.04
R1465:Golga3	UTSW	5	110,357,744 (GRCm39)	missense	probably damaging	1.00
R1465:Golga3	UTSW	5	110,357,744 (GRCm39)	missense	probably damaging	1.00
R1589:Golga3	UTSW	5	110,329,649 (GRCm39)	missense	probably damaging	1.00
R1795:Golga3	UTSW	5	110,355,493 (GRCm39)	missense	possibly damaging	0.47
R1992:Golga3	UTSW	5	110,340,839 (GRCm39)	missense	probably damaging	0.96
R2116:Golga3	UTSW	5	110,335,261 (GRCm39)	missense	probably damaging	0.97
R2130:Golga3	UTSW	5	110,350,805 (GRCm39)	critical splice donor site	probably null
R2153:Golga3	UTSW	5	110,335,856 (GRCm39)	splice site	probably null
R2158:Golga3	UTSW	5	110,335,227 (GRCm39)	missense	probably damaging	1.00
R2357:Golga3	UTSW	5	110,350,514 (GRCm39)	missense	probably damaging	1.00
R2397:Golga3	UTSW	5	110,353,743 (GRCm39)	splice site	probably benign
R2418:Golga3	UTSW	5	110,349,734 (GRCm39)	missense	probably damaging	1.00
R2495:Golga3	UTSW	5	110,355,462 (GRCm39)	missense	probably damaging	0.99
R2763:Golga3	UTSW	5	110,352,761 (GRCm39)	missense	possibly damaging	0.87
R3276:Golga3	UTSW	5	110,349,864 (GRCm39)	splice site	probably benign
R3614:Golga3	UTSW	5	110,368,774 (GRCm39)	missense	probably damaging	1.00
R4520:Golga3	UTSW	5	110,351,617 (GRCm39)	nonsense	probably null
R5001:Golga3	UTSW	5	110,353,643 (GRCm39)	missense	probably damaging	1.00
R5046:Golga3	UTSW	5	110,340,806 (GRCm39)	missense	probably damaging	0.99
R5157:Golga3	UTSW	5	110,350,537 (GRCm39)	missense	probably benign	0.00
R5191:Golga3	UTSW	5	110,332,173 (GRCm39)	intron	probably benign
R5376:Golga3	UTSW	5	110,368,811 (GRCm39)	critical splice donor site	probably null
R5399:Golga3	UTSW	5	110,352,890 (GRCm39)	missense	probably damaging	0.96
R5407:Golga3	UTSW	5	110,349,856 (GRCm39)	nonsense	probably null
R5884:Golga3	UTSW	5	110,364,761 (GRCm39)	missense	probably damaging	1.00
R6087:Golga3	UTSW	5	110,352,812 (GRCm39)	missense	probably damaging	0.99
R6526:Golga3	UTSW	5	110,352,761 (GRCm39)	missense	probably damaging	0.98
R6651:Golga3	UTSW	5	110,365,996 (GRCm39)	nonsense	probably null
R7041:Golga3	UTSW	5	110,356,450 (GRCm39)	critical splice donor site	probably null
R7057:Golga3	UTSW	5	110,336,529 (GRCm39)	missense	probably damaging	1.00
R7078:Golga3	UTSW	5	110,340,953 (GRCm39)	missense	probably damaging	0.99
R7114:Golga3	UTSW	5	110,350,578 (GRCm39)	missense	probably benign	0.01
R7190:Golga3	UTSW	5	110,357,721 (GRCm39)	missense	probably damaging	1.00
R7405:Golga3	UTSW	5	110,356,312 (GRCm39)	missense	probably damaging	0.97
R7528:Golga3	UTSW	5	110,360,098 (GRCm39)	missense	probably damaging	1.00
R7638:Golga3	UTSW	5	110,353,694 (GRCm39)	missense	probably benign
R7760:Golga3	UTSW	5	110,353,716 (GRCm39)	missense	probably benign	0.39
R8099:Golga3	UTSW	5	110,336,573 (GRCm39)	nonsense	probably null
R8144:Golga3	UTSW	5	110,333,745 (GRCm39)	missense	probably damaging	0.99
R8558:Golga3	UTSW	5	110,356,421 (GRCm39)	missense	possibly damaging	0.83
R8887:Golga3	UTSW	5	110,353,626 (GRCm39)	intron	probably benign
R9039:Golga3	UTSW	5	110,352,799 (GRCm39)	missense	probably benign	0.00
R9045:Golga3	UTSW	5	110,340,963 (GRCm39)	missense	probably benign	0.00
R9057:Golga3	UTSW	5	110,332,465 (GRCm39)	missense	probably damaging	1.00
R9100:Golga3	UTSW	5	110,337,544 (GRCm39)	missense	probably benign	0.31
R9112:Golga3	UTSW	5	110,333,757 (GRCm39)	missense	probably benign	0.08
R9198:Golga3	UTSW	5	110,355,619 (GRCm39)	missense	probably benign	0.11
R9755:Golga3	UTSW	5	110,340,847 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CTCTTGATGACCTGCATACACG -3'
(R):5'- ACAGAGAGAACCTGGTTTCCC -3'

Sequencing Primer
(F):5'- GATGACCTGCATACACGTTACGATG -3'
(R):5'- GGTGCAACAAGAACTACAGATTTC -3'

Posted On

2021-04-30