Incidental Mutation 'R5771:Golga4'
ID 445372
Institutional Source Beutler Lab
Gene Symbol Golga4
Ensembl Gene ENSMUSG00000038708
Gene Name golgin A4
Synonyms golgin-245, Olp-1
MMRRC Submission 043371-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5771 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 118335335-118411587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118387351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1491 (E1491G)
Ref Sequence ENSEMBL: ENSMUSP00000081880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097]
AlphaFold Q91VW5
Predicted Effect probably damaging
Transcript: ENSMUST00000084820
AA Change: E1491G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: E1491G

DomainStartEndE-ValueType
low complexity region 10 41 N/A INTRINSIC
coiled coil region 157 241 N/A INTRINSIC
internal_repeat_1 271 299 2.93e-5 PROSPERO
low complexity region 339 351 N/A INTRINSIC
low complexity region 513 532 N/A INTRINSIC
low complexity region 547 566 N/A INTRINSIC
low complexity region 705 715 N/A INTRINSIC
low complexity region 739 755 N/A INTRINSIC
low complexity region 882 895 N/A INTRINSIC
SCOP:d1epua_ 940 1076 2e-3 SMART
low complexity region 1138 1152 N/A INTRINSIC
low complexity region 1161 1182 N/A INTRINSIC
low complexity region 1204 1228 N/A INTRINSIC
coiled coil region 1283 1496 N/A INTRINSIC
internal_repeat_2 1500 1525 5.98e-5 PROSPERO
coiled coil region 1541 1715 N/A INTRINSIC
low complexity region 1756 1778 N/A INTRINSIC
internal_repeat_1 1811 1839 2.93e-5 PROSPERO
coiled coil region 1844 1883 N/A INTRINSIC
internal_repeat_2 1899 1924 5.98e-5 PROSPERO
coiled coil region 1933 2160 N/A INTRINSIC
Grip 2181 2225 1.38e-16 SMART
Predicted Effect unknown
Transcript: ENSMUST00000211840
AA Change: E501G
Predicted Effect probably benign
Transcript: ENSMUST00000212097
Predicted Effect probably benign
Transcript: ENSMUST00000212183
Predicted Effect probably benign
Transcript: ENSMUST00000212274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212913
Meta Mutation Damage Score 0.1182 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 95% (87/92)
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 one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,411 (GRCm39) N1091K probably damaging Het
Adam3 C T 8: 25,197,427 (GRCm39) V335I probably benign Het
AI504432 G A 3: 106,956,299 (GRCm39) noncoding transcript Het
Apcdd1 A G 18: 63,070,027 (GRCm39) Y98C probably damaging Het
Aqp9 C T 9: 71,030,146 (GRCm39) A214T probably damaging Het
Atp8b4 T C 2: 126,220,664 (GRCm39) D578G probably benign Het
Bcdin3d T C 15: 99,368,717 (GRCm39) M161V probably benign Het
Bicral C T 17: 47,136,284 (GRCm39) V309I possibly damaging Het
Ccdc88b C T 19: 6,831,203 (GRCm39) A580T probably benign Het
Cdhr2 T A 13: 54,874,508 (GRCm39) V860E probably damaging Het
Clhc1 A T 11: 29,513,854 (GRCm39) N302Y possibly damaging Het
Cnnm2 T A 19: 46,845,434 (GRCm39) probably null Het
Crebbp T C 16: 3,937,636 (GRCm39) N709S probably benign Het
Ctnnal1 T C 4: 56,826,328 (GRCm39) S512G probably benign Het
Dgcr8 C T 16: 18,090,632 (GRCm39) V581I probably benign Het
Dnaaf10 A G 11: 17,174,638 (GRCm39) T169A probably benign Het
Dnah7c G A 1: 46,678,825 (GRCm39) V1790I probably benign Het
Efl1 A G 7: 82,341,732 (GRCm39) K452E probably benign Het
Epb42 A C 2: 120,852,301 (GRCm39) V564G probably damaging Het
Etv4 G A 11: 101,662,282 (GRCm39) P335S probably damaging Het
Fbxw9 T A 8: 85,791,201 (GRCm39) probably null Het
Fcrl2 A T 3: 87,170,775 (GRCm39) L3Q probably damaging Het
Frmd8 C A 19: 5,919,478 (GRCm39) A190S probably benign Het
Gcm2 C T 13: 41,256,991 (GRCm39) D253N probably benign Het
Gfm1 T C 3: 67,342,895 (GRCm39) V143A probably benign Het
Gigyf2 T C 1: 87,374,050 (GRCm39) M1226T possibly damaging Het
Gm10110 C T 14: 90,134,675 (GRCm39) noncoding transcript Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm20939 T G 17: 95,181,767 (GRCm39) C55W possibly damaging Het
Gm5407 T A 16: 49,117,229 (GRCm39) noncoding transcript Het
Hdac11 T A 6: 91,146,364 (GRCm39) probably null Het
Hs3st3b1 C T 11: 63,780,098 (GRCm39) S343N probably benign Het
Igkv12-44 G A 6: 69,792,075 (GRCm39) P4S probably benign Het
Igkv1-35 C T 6: 69,988,231 (GRCm39) V22I probably benign Het
Kcns2 A T 15: 34,839,068 (GRCm39) T144S probably benign Het
Khdc1c T C 1: 21,439,266 (GRCm39) V84A possibly damaging Het
Kif4-ps T A 12: 101,115,544 (GRCm39) noncoding transcript Het
Lamc2 T G 1: 153,017,340 (GRCm39) Y549S probably benign Het
Lect2 T A 13: 56,696,154 (GRCm39) I8F probably benign Het
Loxl3 T A 6: 83,012,780 (GRCm39) probably null Het
Lrwd1 A T 5: 136,152,516 (GRCm39) I545N possibly damaging Het
Ltbp3 T C 19: 5,797,572 (GRCm39) C437R probably damaging Het
Lypd3 T C 7: 24,339,787 (GRCm39) S285P probably benign Het
Mast2 T A 4: 116,190,622 (GRCm39) H83L possibly damaging Het
Mfsd4b4 A G 10: 39,768,635 (GRCm39) F153L probably benign Het
Ms4a4b T A 19: 11,438,606 (GRCm39) probably null Het
Nbr1 T A 11: 101,450,364 (GRCm39) L41Q probably damaging Het
Nlrp4a G A 7: 26,152,814 (GRCm39) C628Y probably damaging Het
Nup160 C T 2: 90,553,740 (GRCm39) R1157C probably damaging Het
Obscn T A 11: 58,891,533 (GRCm39) I7000F unknown Het
Or4k41 T A 2: 111,280,406 (GRCm39) probably null Het
Or4p21 A T 2: 88,276,652 (GRCm39) V210D possibly damaging Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Or5b122 T G 19: 13,562,872 (GRCm39) V25G probably damaging Het
Or8g2 A T 9: 39,821,546 (GRCm39) Y149F probably damaging Het
Pdilt T C 7: 119,094,217 (GRCm39) K345E probably damaging Het
Ppp1r12b A T 1: 134,701,162 (GRCm39) probably null Het
Ppp2r1b A T 9: 50,778,132 (GRCm39) Q219L probably damaging Het
Prim2 A G 1: 33,493,232 (GRCm39) S485P unknown Het
Prkdc A G 16: 15,482,097 (GRCm39) D380G probably damaging Het
Psmg1 A G 16: 95,783,369 (GRCm39) L243S probably damaging Het
Rapgef5 T A 12: 117,685,061 (GRCm39) V270D probably benign Het
Rnft1 C T 11: 86,384,032 (GRCm39) R311* probably null Het
Scaper T A 9: 55,724,075 (GRCm39) I628L probably damaging Het
Serpina3j C A 12: 104,281,185 (GRCm39) H119Q possibly damaging Het
Slamf6 G A 1: 171,745,341 (GRCm39) V23I probably damaging Het
Slc12a5 T A 2: 164,815,688 (GRCm39) M45K possibly damaging Het
Slc25a11 A C 11: 70,537,016 (GRCm39) V13G probably damaging Het
Slc7a14 T A 3: 31,292,856 (GRCm39) Y143F probably damaging Het
Spryd3 A G 15: 102,025,342 (GRCm39) probably benign Het
Stard13 C A 5: 151,113,476 (GRCm39) L28F probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Taf2 A G 15: 54,923,335 (GRCm39) V314A probably benign Het
Tas2r106 T C 6: 131,655,086 (GRCm39) N255S possibly damaging Het
Tbxa2r T A 10: 81,168,775 (GRCm39) W155R probably damaging Het
Tcf3 A G 10: 80,257,450 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,404,959 (GRCm39) D148G probably damaging Het
Vmn2r77 A G 7: 86,461,235 (GRCm39) N854D probably benign Het
Vstm4 A T 14: 32,626,526 (GRCm39) H64L probably benign Het
Wnk2 T C 13: 49,256,276 (GRCm39) T282A probably damaging Het
Zscan4c A T 7: 10,743,574 (GRCm39) D391V probably benign Het
Other mutations in Golga4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00711:Golga4 APN 9 118,343,339 (GRCm39) critical splice donor site probably null
IGL00801:Golga4 APN 9 118,367,994 (GRCm39) missense probably damaging 0.98
IGL01395:Golga4 APN 9 118,364,441 (GRCm39) missense probably damaging 1.00
IGL01472:Golga4 APN 9 118,361,642 (GRCm39) missense probably damaging 1.00
IGL01519:Golga4 APN 9 118,356,160 (GRCm39) missense probably damaging 1.00
IGL01563:Golga4 APN 9 118,356,074 (GRCm39) splice site probably benign
IGL02593:Golga4 APN 9 118,384,634 (GRCm39) unclassified probably benign
IGL02803:Golga4 APN 9 118,364,528 (GRCm39) missense probably benign
IGL02939:Golga4 APN 9 118,363,700 (GRCm39) missense probably damaging 1.00
IGL02939:Golga4 APN 9 118,364,522 (GRCm39) missense probably benign 0.01
IGL03123:Golga4 APN 9 118,365,953 (GRCm39) missense probably damaging 1.00
IGL03334:Golga4 APN 9 118,366,301 (GRCm39) splice site probably benign
F5770:Golga4 UTSW 9 118,385,143 (GRCm39) missense possibly damaging 0.62
F6893:Golga4 UTSW 9 118,382,525 (GRCm39) missense probably damaging 1.00
PIT4382001:Golga4 UTSW 9 118,382,521 (GRCm39) missense possibly damaging 0.88
R0179:Golga4 UTSW 9 118,389,808 (GRCm39) critical splice acceptor site probably null
R0279:Golga4 UTSW 9 118,398,061 (GRCm39) missense probably benign 0.00
R0362:Golga4 UTSW 9 118,384,853 (GRCm39) missense probably benign 0.13
R0973:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R0973:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R0974:Golga4 UTSW 9 118,366,341 (GRCm39) missense probably damaging 1.00
R1128:Golga4 UTSW 9 118,377,852 (GRCm39) missense probably benign 0.40
R1384:Golga4 UTSW 9 118,394,719 (GRCm39) missense probably damaging 0.99
R1435:Golga4 UTSW 9 118,364,508 (GRCm39) missense probably benign 0.00
R1513:Golga4 UTSW 9 118,384,800 (GRCm39) missense probably benign 0.02
R1818:Golga4 UTSW 9 118,402,055 (GRCm39) missense probably damaging 1.00
R2083:Golga4 UTSW 9 118,361,658 (GRCm39) missense probably damaging 1.00
R2243:Golga4 UTSW 9 118,385,972 (GRCm39) missense probably benign 0.06
R2355:Golga4 UTSW 9 118,389,810 (GRCm39) missense probably benign 0.00
R2518:Golga4 UTSW 9 118,385,680 (GRCm39) missense probably damaging 1.00
R2921:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R2922:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R2923:Golga4 UTSW 9 118,388,411 (GRCm39) missense possibly damaging 0.49
R3121:Golga4 UTSW 9 118,386,448 (GRCm39) missense possibly damaging 0.68
R3424:Golga4 UTSW 9 118,363,715 (GRCm39) missense probably benign 0.16
R3909:Golga4 UTSW 9 118,387,804 (GRCm39) missense possibly damaging 0.82
R3913:Golga4 UTSW 9 118,368,039 (GRCm39) missense probably damaging 0.99
R4321:Golga4 UTSW 9 118,385,503 (GRCm39) missense probably damaging 1.00
R4358:Golga4 UTSW 9 118,380,946 (GRCm39) missense probably benign 0.16
R4483:Golga4 UTSW 9 118,343,254 (GRCm39) missense probably damaging 1.00
R4515:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4518:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4519:Golga4 UTSW 9 118,388,076 (GRCm39) missense probably benign 0.28
R4545:Golga4 UTSW 9 118,385,913 (GRCm39) missense probably damaging 1.00
R4546:Golga4 UTSW 9 118,385,913 (GRCm39) missense probably damaging 1.00
R4580:Golga4 UTSW 9 118,386,327 (GRCm39) missense probably benign 0.00
R4918:Golga4 UTSW 9 118,387,213 (GRCm39) missense probably damaging 1.00
R5007:Golga4 UTSW 9 118,387,368 (GRCm39) missense probably benign
R5045:Golga4 UTSW 9 118,394,724 (GRCm39) missense probably benign
R5232:Golga4 UTSW 9 118,335,626 (GRCm39) critical splice donor site probably null
R5256:Golga4 UTSW 9 118,385,569 (GRCm39) missense possibly damaging 0.93
R5502:Golga4 UTSW 9 118,388,125 (GRCm39) nonsense probably null
R5567:Golga4 UTSW 9 118,387,251 (GRCm39) missense probably damaging 1.00
R5576:Golga4 UTSW 9 118,382,602 (GRCm39) missense probably benign 0.13
R5807:Golga4 UTSW 9 118,356,198 (GRCm39) missense probably damaging 0.99
R5860:Golga4 UTSW 9 118,387,174 (GRCm39) missense probably damaging 1.00
R6012:Golga4 UTSW 9 118,388,764 (GRCm39) missense possibly damaging 0.90
R6285:Golga4 UTSW 9 118,387,695 (GRCm39) nonsense probably null
R6299:Golga4 UTSW 9 118,386,438 (GRCm39) missense probably benign 0.03
R6467:Golga4 UTSW 9 118,365,860 (GRCm39) missense probably damaging 1.00
R6552:Golga4 UTSW 9 118,343,299 (GRCm39) missense probably damaging 1.00
R6688:Golga4 UTSW 9 118,343,278 (GRCm39) missense possibly damaging 0.66
R6965:Golga4 UTSW 9 118,377,847 (GRCm39) missense probably damaging 1.00
R6987:Golga4 UTSW 9 118,387,600 (GRCm39) missense probably benign
R7212:Golga4 UTSW 9 118,365,908 (GRCm39) missense possibly damaging 0.80
R7426:Golga4 UTSW 9 118,388,563 (GRCm39) missense probably benign
R7431:Golga4 UTSW 9 118,388,799 (GRCm39) missense probably damaging 1.00
R7641:Golga4 UTSW 9 118,386,643 (GRCm39) missense probably benign 0.05
R7727:Golga4 UTSW 9 118,377,770 (GRCm39) missense probably damaging 1.00
R7729:Golga4 UTSW 9 118,385,131 (GRCm39) missense possibly damaging 0.51
R7811:Golga4 UTSW 9 118,361,643 (GRCm39) missense probably damaging 1.00
R7849:Golga4 UTSW 9 118,388,379 (GRCm39) missense possibly damaging 0.93
R7891:Golga4 UTSW 9 118,385,434 (GRCm39) missense probably damaging 1.00
R7976:Golga4 UTSW 9 118,365,836 (GRCm39) missense possibly damaging 0.49
R8275:Golga4 UTSW 9 118,361,627 (GRCm39) missense probably damaging 1.00
R8378:Golga4 UTSW 9 118,387,390 (GRCm39) missense probably benign 0.03
R8514:Golga4 UTSW 9 118,384,864 (GRCm39) missense possibly damaging 0.47
R8698:Golga4 UTSW 9 118,385,029 (GRCm39) missense probably damaging 0.97
R8856:Golga4 UTSW 9 118,385,779 (GRCm39) missense probably damaging 0.98
R9227:Golga4 UTSW 9 118,385,941 (GRCm39) missense possibly damaging 0.94
R9282:Golga4 UTSW 9 118,385,893 (GRCm39) missense probably damaging 1.00
RF022:Golga4 UTSW 9 118,387,057 (GRCm39) missense probably damaging 1.00
V7583:Golga4 UTSW 9 118,385,143 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TGAAAGTCGATGCTCTGAGTAAAG -3'
(R):5'- TGAAGTCTCTGAACCAGCCC -3'

Sequencing Primer
(F):5'- GAGAAAATGTCTGCCCTTGAGC -3'
(R):5'- TCTGAACCAGCCCACTGTG -3'
Posted On 2016-11-21