Mutagenetix > Incidental Mutation

Incidental Mutation 'R1299:Golga3'

158244

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

039365-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110324723-110374336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110352709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 867 (A867T)

Ref Sequence

ENSEMBL: ENSMUSP00000031477 (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: A867T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: A867T

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: A827T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: A827T

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

Meta Mutation Damage Score

0.0860

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (38/38)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,821 (GRCm39)	L2228P	possibly damaging	Het
Acnat1	T	A	4: 49,450,925 (GRCm39)	E62V	possibly damaging	Het
Adam7	A	G	14: 68,763,748 (GRCm39)		probably benign	Het
Ate1	A	T	7: 130,106,485 (GRCm39)	V292D	probably damaging	Het
Cbx8	T	C	11: 118,931,676 (GRCm39)	M1V	probably null	Het
Cdc73	T	C	1: 143,575,019 (GRCm39)	D58G	probably benign	Het
Cgnl1	G	A	9: 71,628,994 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Fam133b	T	C	5: 3,604,626 (GRCm39)		probably benign	Het
Fndc3a	A	G	14: 72,803,638 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,695,185 (GRCm39)	Y50F	probably benign	Het
Gramd1c	A	G	16: 43,803,865 (GRCm39)		probably benign	Het
Gypa	G	A	8: 81,223,382 (GRCm39)	V53I	unknown	Het
H2-DMb2	T	C	17: 34,369,561 (GRCm39)	V235A	probably benign	Het
Igkv10-94	T	C	6: 68,681,482 (GRCm39)		probably benign	Het
Katnip	A	C	7: 125,451,195 (GRCm39)	M1109L	probably benign	Het
Klhl17	T	C	4: 156,315,419 (GRCm39)	Y484C	probably damaging	Het
Ltbp3	T	C	19: 5,795,456 (GRCm39)		probably benign	Het
Mapkbp1	G	A	2: 119,845,885 (GRCm39)	C412Y	probably damaging	Het
Mblac2	C	A	13: 81,859,845 (GRCm39)	C65*	probably null	Het
Or5b104	T	A	19: 13,072,494 (GRCm39)	N173Y	possibly damaging	Het
Or6c217	A	G	10: 129,737,946 (GRCm39)	I211T	probably benign	Het
Parn	G	A	16: 13,482,593 (GRCm39)	T85M	probably benign	Het
Pcdhb22	T	C	18: 37,653,643 (GRCm39)	S704P	probably damaging	Het
Prex1	A	G	2: 166,427,827 (GRCm39)	F942L	possibly damaging	Het
Prox1	G	T	1: 189,879,140 (GRCm39)		probably benign	Het
Prss55	A	T	14: 64,319,147 (GRCm39)	I70N	probably damaging	Het
Slc25a13	C	T	6: 6,113,937 (GRCm39)		probably null	Het
Smarca2	T	C	19: 26,749,011 (GRCm39)		probably null	Het
Smarcc2	C	A	10: 128,297,247 (GRCm39)	N46K	probably damaging	Het
Tdpoz4	A	T	3: 93,703,769 (GRCm39)	Y22F	probably benign	Het
Tgfbr1	T	A	4: 47,396,587 (GRCm39)		probably null	Het
Xpr1	A	C	1: 155,292,949 (GRCm39)	I11S	probably damaging	Het
Zfp354b	A	C	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp882	A	G	8: 72,667,317 (GRCm39)	E88G	probably damaging	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
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
R8708:Golga3	UTSW	5	110,350,721 (GRCm39)	missense	probably benign	0.05
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'- AGGAAGATCATGGGATGCTTCATGC -3'
(R):5'- ACTGAAGATGCCCCTCAAGCTCTG -3'

Sequencing Primer
(F):5'- gcattttcctctaatcctctaagcc -3'
(R):5'- TGCCATCTGCTGGTGAAC -3'

Posted On

2014-02-18