Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Golga3'

478085

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

042595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110324723-110374336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110353643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 934 (S934P)

Ref Sequence

ENSEMBL: ENSMUSP00000031477 (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: S934P

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

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: S934P

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: S894P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: S894P

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,232,441 (GRCm39)	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cpsf6	T	A	10: 117,203,866 (GRCm39)	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pds5a	T	C	5: 65,854,128 (GRCm39)	D38G	probably damaging	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,000,341 (GRCm39)	N225K	probably benign	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Yju2b	G	A	8: 84,985,304 (GRCm39)	P322S	probably benign	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	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
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
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
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'- TAATGGCCTGGAAATAGTGGTC -3'
(R):5'- TGTTAGGAACACAGCAACACCG -3'

Sequencing Primer
(F):5'- GCCTGGAAATAGTGGTCAAATTTG -3'
(R):5'- GAGGACTATCCAAACTAATCCCTCTC -3'

Posted On

2017-05-23