Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Golga3'

233133

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

040120-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110324723-110374336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110335261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 192 (M192L)

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 damaging
Transcript: ENSMUST00000031477
AA Change: M192L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: M192L

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

possibly damaging
Transcript: ENSMUST00000112512
AA Change: M152L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: M152L

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,253,243 (GRCm39)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,677,132 (GRCm39)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Armc2	A	T	10: 41,839,663 (GRCm39)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Atm	C	T	9: 53,412,269 (GRCm39)	E960K	probably benign	Het
Bend5	G	T	4: 111,272,436 (GRCm39)	R22L	probably benign	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Cmah	G	A	13: 24,612,880 (GRCm39)	D26N	probably benign	Het
Cnot1	A	C	8: 96,452,781 (GRCm39)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,455,504 (GRCm39)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,271,160 (GRCm39)	T638A	unknown	Het
Coro1a	T	C	7: 126,301,194 (GRCm39)	E102G	probably damaging	Het
Ddx27	A	C	2: 166,869,684 (GRCm39)	D373A	probably benign	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dhx37	A	G	5: 125,498,166 (GRCm39)	V681A	probably damaging	Het
Dmxl1	T	A	18: 50,011,884 (GRCm39)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gfus	A	G	15: 75,797,991 (GRCm39)	F223S	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm12790	G	A	4: 101,824,848 (GRCm39)	T140I	possibly damaging	Het
H2-T22	A	T	17: 36,349,949 (GRCm39)		probably null	Het
Hectd2	C	A	19: 36,591,824 (GRCm39)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,210,912 (GRCm39)	N116S	probably damaging	Het
Hoatz	A	G	9: 51,012,384 (GRCm39)	S79P	possibly damaging	Het
Hs6st3	T	A	14: 120,106,699 (GRCm39)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ipo7	T	A	7: 109,650,325 (GRCm39)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,036,872 (GRCm39)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,431 (GRCm39)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,166,805 (GRCm39)	V342E	probably damaging	Het
Krt28	A	C	11: 99,255,943 (GRCm39)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrch1	G	A	14: 75,022,971 (GRCm39)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,412,362 (GRCm39)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,810,286 (GRCm39)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,785,033 (GRCm39)	V223A	probably damaging	Het
Map1b	G	T	13: 99,567,152 (GRCm39)	S1856R	unknown	Het
Mecom	T	A	3: 30,019,607 (GRCm39)	Q759L	probably damaging	Het
Mfsd6	T	A	1: 52,700,134 (GRCm39)	R671S	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Ndufab1	A	G	7: 121,700,987 (GRCm39)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 125,984,280 (GRCm39)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,167,661 (GRCm39)	S199A	probably benign	Het
Nipa1	G	T	7: 55,635,273 (GRCm39)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,005,326 (GRCm39)	K630*	probably null	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,046,163 (GRCm39)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Nup50l	A	T	6: 96,141,841 (GRCm39)	V401E	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or52z15	T	C	7: 103,332,519 (GRCm39)	I188T	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Or8g50	T	A	9: 39,648,600 (GRCm39)	M163K	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm39)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,757,461 (GRCm39)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,432,878 (GRCm39)	A3378S	probably damaging	Het
Plg	A	T	17: 12,603,364 (GRCm39)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,701,572 (GRCm39)	D423E	probably benign	Het
Prpf8	T	C	11: 75,378,547 (GRCm39)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,528,180 (GRCm39)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,127,708 (GRCm39)	S89*	probably null	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Pygm	A	G	19: 6,436,438 (GRCm39)	N100S	probably damaging	Het
Reps1	A	G	10: 18,000,668 (GRCm39)	E760G	probably damaging	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Sctr	A	T	1: 119,959,312 (GRCm39)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,645,933 (GRCm39)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,410,077 (GRCm39)	E153G	probably damaging	Het
Synm	G	A	7: 67,383,343 (GRCm39)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 127,851,977 (GRCm39)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,126,699 (GRCm39)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tmem221	T	C	8: 72,010,472 (GRCm39)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,552 (GRCm39)		noncoding transcript	Het
Tnxb	T	C	17: 34,891,201 (GRCm39)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,333,415 (GRCm39)	N158I	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp31	C	T	7: 121,247,919 (GRCm39)	V1175M	probably benign	Het
Veph1	G	T	3: 65,964,610 (GRCm39)	N806K	probably benign	Het
Vmn1r223	G	T	13: 23,433,832 (GRCm39)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,030,558 (GRCm39)	S795C	probably benign	Het
Wdr41	A	G	13: 95,151,537 (GRCm39)		probably null	Het
Zfp617	A	T	8: 72,686,009 (GRCm39)	H113L	probably benign	Het
Zfp715	T	A	7: 42,947,370 (GRCm39)	R863S	possibly 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
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
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'- TCTAGTCTTTCAGTGCAACCTG -3'
(R):5'- AGCCAGAGACCGAATCTTGC -3'

Sequencing Primer
(F):5'- GAAGATTTGCTGCACCCAACATTG -3'
(R):5'- CCAGAGACCGAATCTTGCTTGATTTG -3'

Posted On

2014-09-18