Incidental Mutation 'R0591:Golga3'
ID 55971
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 038781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110324723-110374336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 110336609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 416 (Q416P)
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: Q416P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: Q416P

DomainStartEndE-ValueType
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: Q376P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: Q376P

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.2610 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Golga3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTATGAAAAGCAGTGTAGCCCTATCTC -3'
(R):5'- GTGCCAGCACACCCAGCAG -3'

Sequencing Primer
(F):5'- tcatacccatgatccaagcac -3'
(R):5'- CAGCAAAGACCCACATACTCTTTTC -3'
Posted On 2013-07-11