Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Golga3'

201051

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

039519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1465 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110209878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1080 (L1080P)

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: L1120P

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

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: L1120P

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: L1080P

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

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: L1080P

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: 97.3%
3x: 96.5%
10x: 93.6%
20x: 86.6%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,740,566	Y121H	probably damaging	Het
Abca13	G	T	11: 9,399,303	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,284,961	Y192H	probably damaging	Het
Afm	A	T	5: 90,550,341	D534V	probably damaging	Het
Agl	T	C	3: 116,771,372	E1076G	probably benign	Het
Angptl3	A	T	4: 99,037,520	H361L	probably benign	Het
Apob	T	C	12: 8,011,421	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,367,301	C376S	possibly damaging	Het
Ass1	A	G	2: 31,520,416	*413W	probably null	Het
Atp6v1h	T	A	1: 5,095,688	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,829,950	S14F	probably damaging	Het
Birc6	G	A	17: 74,623,858	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,271,021	A589T	possibly damaging	Het
Casp9	C	A	4: 141,805,840	T252K	probably benign	Het
Cct4	G	A	11: 23,002,922	D533N	probably damaging	Het
Clcn6	A	C	4: 148,013,901	I555S	probably damaging	Het
Col4a4	A	T	1: 82,497,822		probably null	Het
Cyp2d10	A	T	15: 82,403,928		probably null	Het
D930048N14Rik	A	G	11: 51,654,913		probably benign	Het
Dhfr	A	G	13: 92,368,307		probably benign	Het
Dlg5	T	C	14: 24,154,696		probably null	Het
Dnah11	T	C	12: 118,038,695	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,866,088	E17G	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,669,322	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034	S212P	probably damaging	Het
Ephb6	T	C	6: 41,616,106	F426S	probably damaging	Het
F5	A	T	1: 164,198,833	D1658V	probably benign	Het
Faah	A	T	4: 115,999,558	V469E	probably damaging	Het
Fas	T	C	19: 34,316,613	C123R	probably damaging	Het
Fhod1	T	C	8: 105,338,914		probably benign	Het
Filip1	A	G	9: 79,898,307	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,157,607	G87S	probably damaging	Het
Gm4737	T	C	16: 46,153,848	K389E	probably benign	Het
Gm5096	T	G	18: 87,757,258	F302V	probably damaging	Het
Gpr137	T	C	19: 6,938,444	T281A	probably benign	Het
Grap2	T	A	15: 80,648,411		probably null	Het
Hlcs	T	C	16: 94,268,292	D170G	probably damaging	Het
Hook1	A	G	4: 96,013,256	T484A	probably benign	Het
Hoxa5	T	A	6: 52,203,791	H187L	probably benign	Het
Inpp1	G	T	1: 52,790,094	S255R	probably benign	Het
Inpp4b	T	A	8: 81,768,157	V67E	probably damaging	Het
Iqgap3	A	G	3: 88,087,309	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,469,468		probably null	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Klk1b24	C	A	7: 44,191,361	T71N	probably benign	Het
Loxhd1	A	G	18: 77,380,573		probably null	Het
Lrp1b	C	T	2: 41,111,059	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,025,235	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,107,389	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,500,759	N150S	probably benign	Het
Lrrn4	C	A	2: 132,872,075	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,813,300	S627G	probably damaging	Het
Macf1	A	T	4: 123,493,154	S1224T	probably damaging	Het
Meis2	A	C	2: 116,058,670	H200Q	probably benign	Het
Mesd	C	A	7: 83,895,582	A80E	probably benign	Het
Mtor	G	T	4: 148,525,993		probably benign	Het
Myo3a	T	C	2: 22,577,927	F398L	probably benign	Het
Nagpa	G	T	16: 5,201,528		probably benign	Het
Nanp	A	G	2: 151,030,829	C60R	probably benign	Het
Nectin2	T	G	7: 19,730,116	M313L	probably benign	Het
Nek4	C	T	14: 30,956,887	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,408,781	V371A	probably damaging	Het
Ntrk3	T	C	7: 78,356,014		probably benign	Het
Olfr1463	T	A	19: 13,234,901	V217E	possibly damaging	Het
Olfr156	A	G	4: 43,820,723	F213L	probably benign	Het
Olfr658	T	C	7: 104,644,946	N140S	probably benign	Het
Olfr740	A	G	14: 50,453,177	T42A	possibly damaging	Het
Pcdh20	T	A	14: 88,469,237	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,504,697	R92H	probably damaging	Het
Pgap1	T	C	1: 54,528,555	H377R	probably benign	Het
Phyhipl	G	T	10: 70,570,968	P52Q	probably damaging	Het
Plekhg4	T	C	8: 105,381,040		probably benign	Het
Pwwp2a	T	A	11: 43,705,556	V516E	possibly damaging	Het
Rack1	T	C	11: 48,801,759	V69A	probably damaging	Het
Rexo5	T	A	7: 119,801,358		probably null	Het
Rnf123	T	C	9: 108,071,466		probably benign	Het
Rock1	G	T	18: 10,072,863	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,292,867	L568P	probably damaging	Het
Seh1l	T	C	18: 67,783,984	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,155,843		probably null	Het
Setd1a	T	C	7: 127,788,340		probably benign	Het
Setx	G	T	2: 29,140,389		probably null	Het
Sh3bp1	T	C	15: 78,907,345		probably benign	Het
Shc2	G	T	10: 79,631,302	R146S	probably damaging	Het
Skap2	T	C	6: 51,909,368	T5A	probably benign	Het
Skor2	A	T	18: 76,876,645		probably benign	Het
Slc35a3	T	C	3: 116,687,334	I93M	probably benign	Het
Sohlh1	C	T	2: 25,843,347	G295D	probably damaging	Het
Speg	A	G	1: 75,428,484		probably benign	Het
Sult2a8	A	C	7: 14,416,283	C168G	probably benign	Het
Tax1bp1	T	C	6: 52,727,194		probably benign	Het
Tbc1d4	T	C	14: 101,447,688	I1176V	possibly damaging	Het
Tcof1	A	G	18: 60,818,954		probably benign	Het
Thada	A	T	17: 84,436,676	F735I	possibly damaging	Het
Tle1	A	C	4: 72,139,831	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,153,329	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,617,931	C95F	probably damaging	Het
Uspl1	T	C	5: 149,214,032	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,610,935	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,220,329	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 10,100,322	I263T	probably damaging	Het
Zfp937	T	A	2: 150,239,047	C332*	probably null	Het
Zscan21	T	A	5: 138,125,208	S50T	probably benign	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
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
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'- CAGCTTATCCGAAGCCCTGAGTAAC -3'
(R):5'- TGTCCCACCAGGAGCCTATTACAC -3'

Sequencing Primer
(F):5'- tccttctgcctctgtctcc -3'
(R):5'- CAATGAGCATAGGCTCTTACTGC -3'

Posted On

2014-05-23