Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Golga3'

202123

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

039825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110207627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 989 (K989R)

Ref Sequence

ENSEMBL: ENSMUSP00000031477 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031477
AA Change: K989R

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: K989R

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: K949R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: K949R

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,682,989	G1037*	probably null	Het
Abca8a	A	G	11: 110,050,966	I1159T	probably benign	Het
Abcc1	T	C	16: 14,465,137	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,673,579	I194T	probably damaging	Het
Abtb2	A	G	2: 103,567,024	T100A	probably benign	Het
Adam4	C	T	12: 81,421,294	M184I	probably benign	Het
Afap1l2	T	C	19: 56,928,409	D155G	probably damaging	Het
Ahnak	T	C	19: 9,002,438	V362A	possibly damaging	Het
Ak7	C	T	12: 105,726,223	R179*	probably null	Het
Akap8	C	A	17: 32,315,477	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,595,072	Q204L	probably damaging	Het
Ankrd12	T	C	17: 65,986,227	E737G	possibly damaging	Het
Atrn	A	G	2: 130,972,288	D718G	probably benign	Het
Bco2	A	G	9: 50,541,169	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,725,786	S28T	unknown	Het
Cdc14a	T	A	3: 116,298,473	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,908,828	L387P	probably damaging	Het
Celsr1	A	T	15: 86,030,323	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841		probably null	Het
Cramp1l	T	C	17: 24,964,910	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,857,920	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,517,969	I92F	probably benign	Het
Dhx30	A	T	9: 110,107,983		probably null	Het
Dlg1	T	A	16: 31,743,147	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,706,699	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,683,639	E741K	possibly damaging	Het
Dock3	T	G	9: 107,025,335	H292P	probably damaging	Het
Elmsan1	A	G	12: 84,158,974		probably null	Het
Ercc6	T	A	14: 32,517,028	N24K	probably benign	Het
Esco2	T	C	14: 65,827,277	Q338R	probably benign	Het
Etl4	T	C	2: 20,808,026		probably null	Het
Exoc7	A	T	11: 116,292,521	I498N	probably damaging	Het
Fap	G	A	2: 62,548,589	S123L	probably damaging	Het
Foxn1	T	C	11: 78,371,225	E106G	probably benign	Het
Fscb	T	A	12: 64,474,401	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,782,253	T174A	possibly damaging	Het
Gan	C	T	8: 117,196,460	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,630,523	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,956,841	Y47N	unknown	Het
Gm17333	G	T	16: 77,852,823		noncoding transcript	Het
Gm1758	T	A	16: 14,502,278		noncoding transcript	Het
Gucy2g	C	A	19: 55,199,541	V1041F	probably damaging	Het
Guk1	A	T	11: 59,186,813	F25I	probably benign	Het
H2al1o	C	T	X: 9,572,090	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958	C426F	probably damaging	Het
Hps3	A	G	3: 20,012,695		probably null	Het
Il2rb	A	T	15: 78,483,987	D287E	probably damaging	Het
Ino80	A	T	2: 119,406,859	V1123D	probably damaging	Het
Kdm2b	A	G	5: 122,984,460		probably null	Het
Kif21a	A	T	15: 90,972,727		probably null	Het
Klhl33	A	T	14: 50,892,126	N347K	probably damaging	Het
Krt2	A	G	15: 101,816,426	F250L	possibly damaging	Het
Krt82	T	A	15: 101,543,384	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,306,183	I444V	probably benign	Het
Lmod1	G	A	1: 135,325,124	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mex3d	T	C	10: 80,381,542	T149A	probably benign	Het
Mlxipl	A	C	5: 135,107,170	D83A	probably damaging	Het
Mroh8	T	A	2: 157,269,551	E161V	probably benign	Het
Mroh9	G	A	1: 163,056,778	T397I	probably damaging	Het
Mtss1	T	C	15: 59,058,400	D32G	possibly damaging	Het
Mus81	T	C	19: 5,483,476	D495G	probably benign	Het
Neurod1	A	C	2: 79,454,329	S237A	probably benign	Het
Npas1	G	A	7: 16,474,800	R51C	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,115,853	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,624,255	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,449,535	M565L	probably benign	Het
Pde6a	A	G	18: 61,257,212	E502G	probably damaging	Het
Pde8b	A	G	13: 95,042,019	V566A	probably benign	Het
Phf11b	G	T	14: 59,328,105	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,252,557	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,956,013		probably benign	Het
Plxna2	G	A	1: 194,806,303	G1629D	probably damaging	Het
Plxnb1	T	C	9: 109,100,745	V223A	probably benign	Het
Prkca	A	T	11: 108,012,692	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,808,571	N226I	probably damaging	Het
Pus7	A	C	5: 23,741,916	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264	Q666*	probably null	Het
Sema3d	A	G	5: 12,584,887	D640G	probably benign	Het
Slc6a15	A	G	10: 103,400,260	I279V	probably benign	Het
Slk	T	C	19: 47,620,534	V642A	possibly damaging	Het
Spta1	T	A	1: 174,245,730	M2305K	probably damaging	Het
Srrt	T	C	5: 137,303,012		probably benign	Het
Stfa2l1	A	T	16: 36,156,858	I8L	probably benign	Het
Tap1	T	C	17: 34,194,925	L638P	probably benign	Het
Tbccd1	A	T	16: 22,822,245	L461M	probably benign	Het
Tecta	T	C	9: 42,378,049	T407A	probably benign	Het
Tmbim7	T	C	5: 3,657,493		probably null	Het
Tnrc18	C	A	5: 142,815,114	V30L	probably benign	Het
Tomm7	A	G	5: 23,844,027	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,474,456	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,102,154	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,611,325		probably benign	Het
Vmn2r120	A	T	17: 57,525,038	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,803,106	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,066,440	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,893,985	Y582*	probably null	Het
Zfp518a	T	A	19: 40,915,556	F1310I	probably benign	Het
Zswim1	A	G	2: 164,825,400	I191V	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
R1465:Golga3	UTSW	5	110209878	missense	probably damaging	1.00
R1589:Golga3	UTSW	5	110181783	missense	probably damaging	1.00
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'- GGTCTTTCAAAAGCTAGTACCCG -3'
(R):5'- TGACGGGGAGAAATGTGTTTAC -3'

Sequencing Primer
(F):5'- CTGAAGACAGCTGCAGTGTACTTAC -3'
(R):5'- CGGGGAGAAATGTGTTTACCTACATG -3'

Posted On

2014-06-23