Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02617:Golga3'

300699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golga3

Ensembl Gene

ENSMUSG00000029502

Gene Name

golgin A3

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

110324723-110374336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110336612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 417 (V417E)

Ref Sequence

ENSEMBL: ENSMUSP00000031477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031477] [ENSMUST00000112512] [ENSMUST00000139611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031477
AA Change: V417E

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: V417E

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: V377E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: V377E

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: ENSMUST00000125380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136900

Predicted Effect

probably benign
Transcript: ENSMUST00000139611

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,394,807 (GRCm39)	Q172*	probably null	Het
Adgrg5	A	G	8: 95,660,610 (GRCm39)	D79G	probably benign	Het
Aga	G	A	8: 53,973,348 (GRCm39)	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,318,397 (GRCm39)	Q170R	probably null	Het
Cdh2	T	A	18: 16,760,661 (GRCm39)	N512Y	probably damaging	Het
Chd8	A	G	14: 52,472,648 (GRCm39)	I385T	probably benign	Het
Clic6	A	G	16: 92,296,206 (GRCm39)	K289E	probably benign	Het
Ctcf	G	T	8: 106,403,842 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,488,628 (GRCm39)	Y3447H	probably benign	Het
Fhip1a	A	T	3: 85,580,344 (GRCm39)	D620E	probably benign	Het
Fmo2	T	A	1: 162,704,490 (GRCm39)	Q472L	probably damaging	Het
Gcnt3	C	A	9: 69,941,444 (GRCm39)	G375W	probably damaging	Het
Hivep3	T	C	4: 119,952,641 (GRCm39)	L319P	probably benign	Het
Kctd13	A	G	7: 126,541,504 (GRCm39)	K248R	possibly damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Niban1	T	A	1: 151,447,296 (GRCm39)	S6T	probably benign	Het
Nmt2	A	G	2: 3,315,750 (GRCm39)	I247V	probably benign	Het
Or14a256	T	G	7: 86,264,872 (GRCm39)	H327P	probably benign	Het
Or1e30	T	A	11: 73,678,560 (GRCm39)	N265K	probably benign	Het
Pcdhb12	T	C	18: 37,570,099 (GRCm39)	V415A	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prr27	T	A	5: 87,990,518 (GRCm39)	N43K	probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sec24a	A	T	11: 51,603,014 (GRCm39)		probably null	Het
Srek1ip1	C	A	13: 104,973,984 (GRCm39)	H130Q	possibly damaging	Het
Trio	C	T	15: 27,841,935 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,608,614 (GRCm39)		probably benign	Het
Vmn2r65	C	A	7: 84,589,549 (GRCm39)	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,192,399 (GRCm39)	Q448R	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
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
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

Posted On

2015-04-16