Incidental Mutation 'R1795:Golga3'
ID 202123
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 039825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1795 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110324723-110374336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110355493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 989 (K989R)
Ref Sequence ENSEMBL: ENSMUSP00000031477 (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: K989R

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: K989R

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 benign
Transcript: ENSMUST00000112512
AA Change: K949R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: K949R

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Abcg5 A G 17: 84,981,007 (GRCm39) I194T probably damaging Het
Abtb2 A G 2: 103,397,369 (GRCm39) T100A probably benign Het
Adam4 C T 12: 81,468,068 (GRCm39) M184I probably benign Het
Afap1l2 T C 19: 56,916,841 (GRCm39) D155G probably damaging Het
Ahnak T C 19: 8,979,802 (GRCm39) V362A possibly damaging Het
Ak7 C T 12: 105,692,482 (GRCm39) R179* probably null Het
Akap8 C A 17: 32,534,451 (GRCm39) G332C probably damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Ankrd12 T C 17: 66,293,222 (GRCm39) E737G possibly damaging Het
Atrn A G 2: 130,814,208 (GRCm39) D718G probably benign Het
Bco2 A G 9: 50,452,469 (GRCm39) S200P possibly damaging Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdc14a T A 3: 116,092,122 (GRCm39) Q356L possibly damaging Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Celsr1 A T 15: 85,914,524 (GRCm39) S1150T probably damaging Het
Cntfr A G 4: 41,670,841 (GRCm39) probably null Het
Cramp1 T C 17: 25,183,884 (GRCm39) N1244D probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Cyp4f17 A T 17: 32,736,943 (GRCm39) I92F probably benign Het
Dhx30 A T 9: 109,937,051 (GRCm39) probably null Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dmgdh A T 13: 93,843,207 (GRCm39) M348L probably benign Het
Dnmt3b G A 2: 153,525,559 (GRCm39) E741K possibly damaging Het
Dock3 T G 9: 106,902,534 (GRCm39) H292P probably damaging Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Etl4 T C 2: 20,812,837 (GRCm39) probably null Het
Exoc7 A T 11: 116,183,347 (GRCm39) I498N probably damaging Het
Fap G A 2: 62,378,933 (GRCm39) S123L probably damaging Het
Foxn1 T C 11: 78,262,051 (GRCm39) E106G probably benign Het
Fscb T A 12: 64,521,175 (GRCm39) D97V probably damaging Het
Gabrg1 T C 5: 70,939,596 (GRCm39) T174A possibly damaging Het
Gan C T 8: 117,923,199 (GRCm39) A461V possibly damaging Het
Gbp2 T A 3: 142,336,284 (GRCm39) D211E possibly damaging Het
Gm10271 A T 10: 116,792,746 (GRCm39) Y47N unknown Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm1758 T A 16: 14,320,142 (GRCm39) noncoding transcript Het
Gucy2g C A 19: 55,187,973 (GRCm39) V1041F probably damaging Het
Guk1 A T 11: 59,077,639 (GRCm39) F25I probably benign Het
H2al1o C T X: 9,438,329 (GRCm39) E87K possibly damaging Het
Hemgn C A 4: 46,395,958 (GRCm39) C426F probably damaging Het
Hps3 A G 3: 20,066,859 (GRCm39) probably null Het
Il2rb A T 15: 78,368,187 (GRCm39) D287E probably damaging Het
Ino80 A T 2: 119,237,340 (GRCm39) V1123D probably damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif21a A T 15: 90,856,930 (GRCm39) probably null Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Krt1c A G 15: 101,724,861 (GRCm39) F250L possibly damaging Het
Krt82 T A 15: 101,451,819 (GRCm39) N332I possibly damaging Het
Lgi1 A G 19: 38,294,631 (GRCm39) I444V probably benign Het
Lmod1 G A 1: 135,252,862 (GRCm39) V39M probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Mideas A G 12: 84,205,748 (GRCm39) probably null Het
Mlxipl A C 5: 135,136,024 (GRCm39) D83A probably damaging Het
Mroh8 T A 2: 157,111,471 (GRCm39) E161V probably benign Het
Mroh9 G A 1: 162,884,347 (GRCm39) T397I probably damaging Het
Mtss1 T C 15: 58,930,249 (GRCm39) D32G possibly damaging Het
Mus81 T C 19: 5,533,504 (GRCm39) D495G probably benign Het
Neurod1 A C 2: 79,284,673 (GRCm39) S237A probably benign Het
Npas1 G A 7: 16,208,725 (GRCm39) R51C probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
P2ry14 T C 3: 59,023,274 (GRCm39) N62S probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcdhb14 A T 18: 37,582,588 (GRCm39) M565L probably benign Het
Pde6a A G 18: 61,390,283 (GRCm39) E502G probably damaging Het
Pde8b A G 13: 95,178,527 (GRCm39) V566A probably benign Het
Phf11b G T 14: 59,565,554 (GRCm39) Q108K probably benign Het
Pikfyve T C 1: 65,291,716 (GRCm39) Y1312H probably damaging Het
Plcb3 T C 19: 6,933,381 (GRCm39) probably benign Het
Plxna2 G A 1: 194,488,611 (GRCm39) G1629D probably damaging Het
Plxnb1 T C 9: 108,929,813 (GRCm39) V223A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Prl2a1 A T 13: 27,992,554 (GRCm39) N226I probably damaging Het
Pus7 A C 5: 23,946,914 (GRCm39) M636R probably damaging Het
Samd9l G A 6: 3,375,264 (GRCm39) Q666* probably null Het
Sema3d A G 5: 12,634,854 (GRCm39) D640G probably benign Het
Slc6a15 A G 10: 103,236,121 (GRCm39) I279V probably benign Het
Slk T C 19: 47,608,973 (GRCm39) V642A possibly damaging Het
Spata31e2 C A 1: 26,722,070 (GRCm39) G1037* probably null Het
Spta1 T A 1: 174,073,296 (GRCm39) M2305K probably damaging Het
Srrt T C 5: 137,301,274 (GRCm39) probably benign Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Tap1 T C 17: 34,413,899 (GRCm39) L638P probably benign Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tecta T C 9: 42,289,345 (GRCm39) T407A probably benign Het
Tmbim7 T C 5: 3,707,493 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ugt2a2 A G 5: 87,622,315 (GRCm39) S428P probably benign Het
Vmn1r189 T C 13: 22,286,324 (GRCm39) E171G probably benign Het
Vmn1r61 T C 7: 5,614,324 (GRCm39) probably benign Het
Vmn2r120 A T 17: 57,832,038 (GRCm39) S250R probably benign Het
Vmn2r8 T C 5: 108,950,972 (GRCm39) R158G probably benign Het
Vmn2r98 A T 17: 19,286,702 (GRCm39) Y400F probably damaging Het
Vps13c C A 9: 67,801,267 (GRCm39) Y582* probably null Het
Zfp518a T A 19: 40,904,000 (GRCm39) F1310I probably benign Het
Zswim1 A G 2: 164,667,320 (GRCm39) I191V probably benign 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
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'- GGTCTTTCAAAAGCTAGTACCCG -3'
(R):5'- TGACGGGGAGAAATGTGTTTAC -3'

Sequencing Primer
(F):5'- CTGAAGACAGCTGCAGTGTACTTAC -3'
(R):5'- CGGGGAGAAATGTGTTTACCTACATG -3'
Posted On 2014-06-23