Incidental Mutation 'R7849:Golga4'
ID 606822
Institutional Source Beutler Lab
Gene Symbol Golga4
Ensembl Gene ENSMUSG00000038708
Gene Name golgin A4
Synonyms golgin-245, Olp-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7849 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 118335335-118411587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118388379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1834 (N1834Y)
Ref Sequence ENSEMBL: ENSMUSP00000081880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097]
AlphaFold Q91VW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000084820
AA Change: N1834Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: N1834Y

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
Predicted Effect probably benign
Transcript: ENSMUST00000212097
Predicted Effect probably benign
Transcript: ENSMUST00000212183
Predicted Effect probably benign
Transcript: ENSMUST00000212274
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T C 1: 89,558,141 (GRCm39) V143A probably damaging Het
Agmo A G 12: 37,292,044 (GRCm39) R2G probably benign Het
Alms1 A T 6: 85,598,479 (GRCm39) I1102L possibly damaging Het
Ankrd13a T C 5: 114,929,343 (GRCm39) I140T possibly damaging Het
Arhgef10l T A 4: 140,311,245 (GRCm39) probably null Het
Atxn2l A T 7: 126,092,345 (GRCm39) H967Q possibly damaging Het
B3galnt2 A T 13: 14,169,077 (GRCm39) N370I probably benign Het
Bltp1 T A 3: 37,080,477 (GRCm39) I325N Het
Cacna1e C T 1: 154,509,464 (GRCm39) D264N probably damaging Het
Ccdc112 A T 18: 46,429,390 (GRCm39) Y103N probably benign Het
Ccdc68 A C 18: 70,080,246 (GRCm39) E197A probably damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cntn3 T C 6: 102,242,392 (GRCm39) M418V probably benign Het
Cpne4 T A 9: 104,563,718 (GRCm39) C32S probably damaging Het
Csf2rb2 A T 15: 78,168,621 (GRCm39) S845T probably benign Het
Ctnnd2 T G 15: 31,027,733 (GRCm39) V1219G probably damaging Het
Cyp4f14 G A 17: 33,128,325 (GRCm39) A230V probably benign Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dmxl1 T A 18: 50,094,214 (GRCm39) C2897S probably benign Het
Elavl2 T A 4: 91,260,280 (GRCm39) probably benign Het
Elp1 A T 4: 56,758,968 (GRCm39) S1191T possibly damaging Het
Fam135a T C 1: 24,083,331 (GRCm39) E298G probably damaging Het
Fbn1 A T 2: 125,151,405 (GRCm39) I2534N probably damaging Het
Fibin A G 2: 110,192,825 (GRCm39) S106P probably damaging Het
Fndc3a C T 14: 72,802,100 (GRCm39) V568M probably benign Het
Frem2 A G 3: 53,479,795 (GRCm39) F1966S probably damaging Het
Gata4 T G 14: 63,442,174 (GRCm39) E216A possibly damaging Het
Gmps T A 3: 63,922,984 (GRCm39) V649E probably benign Het
Gpr89 A T 3: 96,778,806 (GRCm39) Y422* probably null Het
Gzmc A T 14: 56,469,829 (GRCm39) F157Y probably benign Het
Hdhd2 A G 18: 77,052,962 (GRCm39) D204G probably damaging Het
Hspa4 T G 11: 53,171,530 (GRCm39) T225P possibly damaging Het
Klhl30 T A 1: 91,287,059 (GRCm39) D448E probably benign Het
Kptn A G 7: 15,853,966 (GRCm39) Y28C probably damaging Het
Krt10 A T 11: 99,278,432 (GRCm39) N242K probably damaging Het
Krt6b A T 15: 101,587,009 (GRCm39) N254K probably damaging Het
Lama5 G T 2: 179,843,605 (GRCm39) D447E probably damaging Het
Lgr6 T C 1: 134,915,419 (GRCm39) Y720C probably damaging Het
Macf1 G C 4: 123,301,392 (GRCm39) P1037A probably benign Het
Map3k19 C T 1: 127,751,383 (GRCm39) G656D probably benign Het
Mroh7 A C 4: 106,578,287 (GRCm39) N130K probably benign Het
Muc16 T C 9: 18,551,801 (GRCm39) T4831A probably benign Het
Nfkb1 A T 3: 135,291,173 (GRCm39) L533H Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or4x11 A G 2: 89,867,626 (GRCm39) Y121C probably damaging Het
Or51k1 C A 7: 103,661,510 (GRCm39) R133L possibly damaging Het
Or5m3b G A 2: 85,871,949 (GRCm39) V97I probably benign Het
Or8a1 A G 9: 37,642,003 (GRCm39) I92T probably damaging Het
Or8g2b A G 9: 39,751,618 (GRCm39) D296G possibly damaging Het
Otub1 T C 19: 7,177,425 (GRCm39) D74G probably damaging Het
Oxct2b A G 4: 123,010,680 (GRCm39) E200G probably damaging Het
Pcdh1 T C 18: 38,322,662 (GRCm39) D1057G probably benign Het
Pkd1 T A 17: 24,805,174 (GRCm39) V3242E probably damaging Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,015,803 (GRCm39) D247V probably benign Het
Pole T A 5: 110,480,414 (GRCm39) M1995K probably benign Het
Ppargc1a T C 5: 51,705,855 (GRCm39) E76G probably benign Het
Pten G T 19: 32,777,396 (GRCm39) R130L probably damaging Het
Ptprj A T 2: 90,274,804 (GRCm39) V1186D probably damaging Het
Rab4a T A 8: 124,532,876 (GRCm39) M1K probably null Het
Rapgef3 C A 15: 97,656,271 (GRCm39) probably null Het
Rarb C A 14: 16,548,473 (GRCm38) V83F probably damaging Het
Rgs22 A T 15: 36,099,858 (GRCm39) F410I probably damaging Het
Rhpn2 A C 7: 35,080,912 (GRCm39) E459A probably benign Het
Rims4 A T 2: 163,705,974 (GRCm39) L220Q probably damaging Het
Robo2 T C 16: 73,770,132 (GRCm39) T531A possibly damaging Het
Sbf2 T C 7: 109,971,717 (GRCm39) H839R probably damaging Het
Setbp1 T C 18: 78,900,068 (GRCm39) R1200G probably benign Het
Slc12a8 C A 16: 33,444,930 (GRCm39) P275T probably damaging Het
Slc23a1 G T 18: 35,757,554 (GRCm39) T239N probably benign Het
Slc37a3 T A 6: 39,341,517 (GRCm39) T40S possibly damaging Het
Speer4c1 T C 5: 15,915,925 (GRCm39) probably null Het
Tet1 A T 10: 62,655,252 (GRCm39) H1556Q possibly damaging Het
Tfcp2l1 T A 1: 118,603,325 (GRCm39) D454E probably damaging Het
Timd6 T A 11: 46,468,058 (GRCm39) I44K not run Het
Tmem123 A T 9: 7,790,890 (GRCm39) M64L probably benign Het
Tmem62 A T 2: 120,814,853 (GRCm39) H172L probably benign Het
Trim15 T G 17: 37,177,764 (GRCm39) Y77S probably benign Het
Trim37 T A 11: 87,092,270 (GRCm39) V693E possibly damaging Het
Trim65 A G 11: 116,017,082 (GRCm39) L460S probably damaging Het
Ttc39a T C 4: 109,279,687 (GRCm39) V109A probably benign Het
Ttc7 A G 17: 87,600,374 (GRCm39) M163V probably null Het
Vps13b T C 15: 35,423,378 (GRCm39) S233P probably damaging Het
Vwf T C 6: 125,633,766 (GRCm39) L2084P Het
Wasl A G 6: 24,633,922 (GRCm39) V114A possibly damaging Het
Wdr5 A G 2: 27,409,463 (GRCm39) S62G probably damaging Het
Wfdc11 G T 2: 164,507,445 (GRCm39) S4* probably null Het
Wfikkn2 C A 11: 94,129,810 (GRCm39) M110I probably benign Het
Wiz T G 17: 32,576,760 (GRCm39) E588A probably benign Het
Xylt1 A G 7: 117,255,891 (GRCm39) H821R probably benign Het
Zbtb7c A T 18: 76,278,772 (GRCm39) H410L probably benign Het
Zc3h18 T A 8: 123,110,710 (GRCm39) D186E probably damaging Het
Zfp687 G T 3: 94,917,673 (GRCm39) L700I possibly damaging Het
Zmym2 T A 14: 57,184,020 (GRCm39) M994K 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
R5771:Golga4 UTSW 9 118,387,351 (GRCm39) missense probably damaging 0.96
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
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'- AGAAAGACTCTGCATGCTGC -3'
(R):5'- CATTTCTTGCTGGGAAGATTGC -3'

Sequencing Primer
(F):5'- CATGCTGCAAAGACGTTTAAGTG -3'
(R):5'- CTTGCTGGGAAGATTGCGATTTTTC -3'
Posted On 2019-12-20