Mutagenetix > Incidental Mutations

Incidental Mutation 'R7405:Golga3'

574497

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110208446 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1000 (I1000F)

Ref Sequence

ENSEMBL: ENSMUSP00000108131 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031477
AA Change: I1040F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: I1040F

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: I1000F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: I1000F

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,153,516		probably null	Het
Fbxo7	T	A	10: 86,044,581	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Nup107	T	C	10: 117,770,415	D474G	probably benign	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,458,543	S82P	probably damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTTCTGAGTTGGGTTTAGTAA -3'
(R):5'- GGAGCAAAGCACAGCCACT -3'

Sequencing Primer
(F):5'- ACCATGCCTGATGACTTGAG -3'
(R):5'- AGCCACTCTGTTTTTAGCAATGCAG -3'

Posted On

2019-09-13