Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Golga3'

691610

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

068914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110176701-110226470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110189678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 411 (H411Y)

Ref Sequence

ENSEMBL: ENSMUSP00000108131 (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: H451Y

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: H451Y

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: H411Y

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: H411Y

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: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Add1	T	A	5: 34,613,278		probably benign	Het
Adgrg3	A	G	8: 95,036,263		probably benign	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Ces2b	C	A	8: 104,831,589		probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Cyp11b2	T	C	15: 74,851,146	K468E	probably damaging	Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdf7	A	T	12: 8,298,652	F215Y	unknown	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Itgb5	T	A	16: 33,920,181	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lamtor4	G	A	5: 138,256,333		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,324,485		silent	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Polr3h	A	T	15: 81,922,516		probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	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
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
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'- GTGTGCTGGCACCATTTTCC -3'
(R):5'- ACTTTGGCCATCAGTCTCTG -3'

Sequencing Primer
(F):5'- TCCAGAGGTCCTGAGTTCAAATC -3'
(R):5'- GATACTGCTCCTCTGCCACTTGTAG -3'

Posted On

2021-12-30