Incidental Mutation 'R2130:Golga3'
ID 227935
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 040133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2130 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110324723-110374336 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 110350805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031477] [ENSMUST00000112512]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031477
SMART Domains Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502

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 null
Transcript: ENSMUST00000112512
SMART Domains Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502

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: ENSMUST00000199123
Meta Mutation Damage Score 0.9576 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 94% (94/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Aadacl2fm3 T C 3: 59,772,769 (GRCm39) V91A probably damaging Het
Adgrl2 T C 3: 148,596,124 (GRCm39) I71V probably damaging Het
Adgrv1 T C 13: 81,729,846 (GRCm39) T212A possibly damaging Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apaf1 A T 10: 90,896,027 (GRCm39) Y348* probably null Het
Apobr A G 7: 126,186,378 (GRCm39) T630A probably benign Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asic1 A T 15: 99,569,756 (GRCm39) T26S possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atrnl1 G A 19: 57,643,426 (GRCm39) G438D probably damaging Het
Bbc3 T C 7: 16,046,268 (GRCm39) V68A possibly damaging Het
Birc6 T C 17: 74,966,149 (GRCm39) probably benign Het
Btnl9 A G 11: 49,071,523 (GRCm39) F100S probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccpg1 A G 9: 72,920,440 (GRCm39) N685S probably damaging Het
Ces3b T A 8: 105,819,607 (GRCm39) probably null Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clhc1 A G 11: 29,507,663 (GRCm39) I126V probably benign Het
Crocc T C 4: 140,756,413 (GRCm39) I1071V probably benign Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Dnajc8 T C 4: 132,271,370 (GRCm39) S62P possibly damaging Het
Dpyd T C 3: 118,468,217 (GRCm39) V77A probably benign Het
Dram2 T A 3: 106,478,076 (GRCm39) M136K possibly damaging Het
Dtx2 T A 5: 136,040,894 (GRCm39) F100I probably damaging Het
Dync2h1 A T 9: 7,011,253 (GRCm39) W3654R probably damaging Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm6578 C A 6: 12,100,186 (GRCm39) noncoding transcript Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Gm9797 G T 10: 11,485,113 (GRCm39) noncoding transcript Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Isoc2b A T 7: 4,854,438 (GRCm39) I31N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lamc2 T A 1: 153,002,870 (GRCm39) D1037V probably damaging Het
Lhfpl2 A G 13: 94,328,557 (GRCm39) D206G possibly damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Mgat2 T C 12: 69,232,068 (GRCm39) F214S probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Niban2 A G 2: 32,813,659 (GRCm39) K624R probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or56a5 T A 7: 104,792,757 (GRCm39) I254F probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psph T A 5: 129,864,603 (GRCm39) probably null Het
Ptpro A G 6: 137,388,114 (GRCm39) probably null Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Qrich2 C T 11: 116,339,243 (GRCm39) probably benign Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf17 T C 14: 56,730,811 (GRCm39) V1205A probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Sgo2b T C 8: 64,380,181 (GRCm39) R884G probably benign Het
Slc10a5 G T 3: 10,400,278 (GRCm39) D127E probably benign Het
Slc25a35 T G 11: 68,859,791 (GRCm39) S101R possibly damaging Het
Slc6a13 T C 6: 121,302,000 (GRCm39) L194P possibly damaging Het
Snw1 T G 12: 87,499,473 (GRCm39) probably benign Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Srsf12 C T 4: 33,225,764 (GRCm39) probably benign Het
Ssxa1 T A X: 20,985,581 (GRCm39) probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tacr3 T C 3: 134,637,941 (GRCm39) V366A probably benign Het
Tasor T A 14: 27,168,345 (GRCm39) Y296N probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tkfc A G 19: 10,573,405 (GRCm39) I279T probably damaging Het
Tmem98 A G 11: 80,708,348 (GRCm39) E106G probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn T C 2: 76,572,861 (GRCm39) T24265A possibly damaging Het
Usp37 A G 1: 74,500,815 (GRCm39) V582A probably damaging Het
Vps13b T A 15: 35,671,546 (GRCm39) I1683N probably benign Het
Vps13d C T 4: 144,882,671 (GRCm39) R968H probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Vwf C T 6: 125,634,020 (GRCm39) T166I probably damaging Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp459 A T 13: 67,556,395 (GRCm39) H229Q probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zmynd19 T A 2: 24,842,648 (GRCm39) Y15* probably null 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
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
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'- GCAATTCACTTCTTGCAGAATGAG -3'
(R):5'- AGACACTCTTCCACAGCAGTG -3'

Sequencing Primer
(F):5'- CTTGCAGAATGAGAAGATTGTCTTG -3'
(R):5'- TCCGCAGATCACTCACAT -3'
Posted On 2014-09-17