Incidental Mutation 'R1542:Golga5'
ID 171847
Institutional Source Beutler Lab
Gene Symbol Golga5
Ensembl Gene ENSMUSG00000021192
Gene Name golgi autoantigen, golgin subfamily a, 5
Synonyms Ret-II
MMRRC Submission 039581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1542 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102469135-102497907 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102474720 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 238 (S238F)
Ref Sequence ENSEMBL: ENSMUSP00000137305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]
AlphaFold Q9QYE6
Predicted Effect probably damaging
Transcript: ENSMUST00000021609
AA Change: S238F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: S238F

DomainStartEndE-ValueType
low complexity region 148 167 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
Pfam:Golgin_A5 233 709 1.1e-172 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179218
AA Change: S238F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: S238F

DomainStartEndE-ValueType
low complexity region 148 167 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
Pfam:Golgin_A5 233 709 1.1e-172 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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 is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout does not result in an obvious phenotype and does not affect Golgi apparatus morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,406 M208T possibly damaging Het
Acsbg2 T A 17: 56,849,791 I416F probably damaging Het
Adam6b G A 12: 113,490,939 D459N possibly damaging Het
Adprh A T 16: 38,445,924 D285E probably damaging Het
Aggf1 A T 13: 95,370,942 C112S probably benign Het
Als2cl T C 9: 110,894,034 V602A probably benign Het
Angptl2 G T 2: 33,228,885 V224F probably benign Het
Ap3b2 A T 7: 81,478,077 probably null Het
Aqp2 A C 15: 99,583,842 I206L probably benign Het
Asap2 A G 12: 21,265,997 D930G probably damaging Het
Cacna1e T A 1: 154,477,779 M682L probably benign Het
Ccdc18 A G 5: 108,212,188 N1146S probably benign Het
Ccr4 G A 9: 114,492,005 H331Y probably benign Het
Cd33 A G 7: 43,532,106 L210P probably damaging Het
Cep85l T C 10: 53,301,584 E351G probably damaging Het
Cntn6 C A 6: 104,848,100 T867K probably damaging Het
Cpeb2 C T 5: 43,285,875 R970C probably damaging Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dscaml1 T A 9: 45,749,440 I1693K possibly damaging Het
Ebf4 A T 2: 130,365,498 M621L probably benign Het
Elp4 G T 2: 105,794,609 T313N probably benign Het
Epas1 T A 17: 86,824,490 I373N possibly damaging Het
Etnk1 A T 6: 143,180,641 M71L probably benign Het
Fry C T 5: 150,404,966 T1257I probably benign Het
Gm21834 A G 17: 57,741,951 F90S possibly damaging Het
Gm8674 T A 13: 49,900,003 noncoding transcript Het
Gna11 T C 10: 81,533,328 T134A probably benign Het
Grin2a T A 16: 9,579,203 N1007Y probably damaging Het
Hist1h3e A G 13: 23,562,164 F68L probably damaging Het
Ifnar2 G A 16: 91,399,265 V253M possibly damaging Het
Insl5 A T 4: 103,018,185 S123T probably damaging Het
Itgb2 T C 10: 77,559,486 S474P probably benign Het
Kcnb2 A G 1: 15,710,788 H628R probably benign Het
L3mbtl2 G A 15: 81,682,151 D392N probably null Het
Lrp1b G T 2: 41,123,712 T1813K probably damaging Het
Map3k4 A G 17: 12,235,906 L1399P probably damaging Het
Mbtps1 A C 8: 119,546,247 probably null Het
Mettl25 A T 10: 105,826,120 S330T probably benign Het
Mical2 T C 7: 112,309,468 L211P probably damaging Het
Mmrn1 T A 6: 60,945,118 S186R probably damaging Het
Mob3b C A 4: 35,084,046 V48L possibly damaging Het
Mpp6 A G 6: 50,198,326 Y539C probably damaging Het
Napsa A T 7: 44,581,689 H114L probably damaging Het
Nsmce4a A T 7: 130,545,893 probably null Het
Nup62 A G 7: 44,829,929 K456R possibly damaging Het
Nwd2 T A 5: 63,806,975 W1301R probably damaging Het
Olfr1141 A G 2: 87,753,318 V225A probably damaging Het
Olfr118 A T 17: 37,672,251 E76V probably damaging Het
Olfr15 T A 16: 3,839,832 N286K probably damaging Het
Olfr364-ps1 T A 2: 37,146,966 S251R probably damaging Het
Oprm1 G T 10: 6,788,960 W29L probably damaging Het
Pcnt T G 10: 76,389,387 N1761T probably benign Het
Pcnt C T 10: 76,401,386 M1355I probably benign Het
Pde11a A T 2: 76,046,855 S757T probably benign Het
Pde6a T A 18: 61,257,045 I490N possibly damaging Het
Pgap1 A G 1: 54,492,090 V742A probably benign Het
Pik3c2b T C 1: 133,090,034 L915P probably damaging Het
Pkd1l1 A G 11: 8,874,179 C1129R possibly damaging Het
Pkhd1l1 A T 15: 44,528,191 H1551L probably benign Het
Plxnb2 C T 15: 89,165,921 C491Y probably damaging Het
Ppt1 C A 4: 122,857,609 H300N probably benign Het
Prpf3 T A 3: 95,836,470 Q457L probably benign Het
Ranbp17 C T 11: 33,264,672 V914I probably benign Het
Rasal2 T C 1: 157,175,851 I413V possibly damaging Het
Rb1cc1 G A 1: 6,244,249 V382I possibly damaging Het
Rere T A 4: 150,615,942 F1125I probably damaging Het
Rprd2 A T 3: 95,765,676 V805E possibly damaging Het
Sept10 T G 10: 59,166,606 E162A probably damaging Het
Sept12 G T 16: 4,992,295 D125E probably benign Het
Serpina6 A G 12: 103,654,473 Y6H probably benign Het
Serpinb3c T C 1: 107,272,787 M209V probably damaging Het
Slc2a7 A T 4: 150,168,471 T523S probably damaging Het
Smdt1 T C 15: 82,346,175 V31A possibly damaging Het
Snrnp48 T C 13: 38,220,704 I245T probably damaging Het
Spink2 G A 5: 77,206,965 T33I probably damaging Het
Sptan1 A G 2: 30,027,127 T2204A probably damaging Het
Synj2 A G 17: 6,025,017 D306G probably benign Het
Tas2r109 A G 6: 132,980,910 I19T possibly damaging Het
Tbk1 C T 10: 121,559,935 V418M probably benign Het
Tcerg1 A G 18: 42,553,430 E684G probably damaging Het
Tenm2 T C 11: 36,300,220 N308S probably damaging Het
Tfb2m A T 1: 179,537,861 probably null Het
Tmc1 T A 19: 20,816,122 L558F probably damaging Het
Tmprss5 T A 9: 49,109,134 I80N possibly damaging Het
Trappc2l G A 8: 122,615,407 V131M probably damaging Het
Trpm7 A C 2: 126,822,599 Y953* probably null Het
Ttn T C 2: 76,753,515 R22383G probably damaging Het
Ugt1a6b G A 1: 88,107,261 G107D probably benign Het
Vmn1r197 A T 13: 22,328,350 Y147F probably benign Het
Zfp507 A T 7: 35,794,801 N272K possibly damaging Het
Zfp526 G A 7: 25,226,262 E649K probably benign Het
Zswim6 G A 13: 107,727,234 noncoding transcript Het
Other mutations in Golga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Golga5 APN 12 102493814 missense probably damaging 0.99
IGL01487:Golga5 APN 12 102495696 intron probably benign
IGL01585:Golga5 APN 12 102479695 missense probably benign
IGL01901:Golga5 APN 12 102479802 critical splice donor site probably null
IGL02063:Golga5 APN 12 102472159 missense probably benign 0.00
IGL02118:Golga5 APN 12 102495752 missense possibly damaging 0.67
IGL02568:Golga5 APN 12 102472079 missense probably benign 0.33
golgotha UTSW 12 102484576 critical splice donor site probably null
BB007:Golga5 UTSW 12 102484422 missense probably benign 0.31
BB017:Golga5 UTSW 12 102484422 missense probably benign 0.31
FR4976:Golga5 UTSW 12 102475660 splice site probably null
R0244:Golga5 UTSW 12 102476188 missense probably benign
R0432:Golga5 UTSW 12 102476208 missense possibly damaging 0.50
R0552:Golga5 UTSW 12 102484493 missense possibly damaging 0.75
R0659:Golga5 UTSW 12 102476208 missense possibly damaging 0.50
R1244:Golga5 UTSW 12 102472295 missense probably benign 0.01
R1791:Golga5 UTSW 12 102492131 missense possibly damaging 0.48
R2310:Golga5 UTSW 12 102492161 missense probably damaging 0.99
R5110:Golga5 UTSW 12 102472077 missense probably benign 0.02
R5704:Golga5 UTSW 12 102489448 missense probably benign 0.00
R6228:Golga5 UTSW 12 102484481 missense probably benign 0.00
R6229:Golga5 UTSW 12 102484481 missense probably benign 0.00
R6241:Golga5 UTSW 12 102472473 missense probably damaging 0.96
R7236:Golga5 UTSW 12 102474775 critical splice donor site probably null
R7355:Golga5 UTSW 12 102472235 missense possibly damaging 0.83
R7404:Golga5 UTSW 12 102484519 missense probably damaging 0.97
R7493:Golga5 UTSW 12 102484576 critical splice donor site probably null
R7930:Golga5 UTSW 12 102484422 missense probably benign 0.31
R8062:Golga5 UTSW 12 102484480 missense probably benign
R8231:Golga5 UTSW 12 102472299 missense probably benign
R8765:Golga5 UTSW 12 102479704 missense probably benign 0.01
R9083:Golga5 UTSW 12 102492217 missense probably benign 0.01
R9085:Golga5 UTSW 12 102492217 missense probably benign 0.01
R9086:Golga5 UTSW 12 102492217 missense probably benign 0.01
R9301:Golga5 UTSW 12 102476798 missense probably benign 0.00
R9655:Golga5 UTSW 12 102479749 missense possibly damaging 0.55
Z1177:Golga5 UTSW 12 102472005 start gained probably benign
Z1187:Golga5 UTSW 12 102474594 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCTTCCAGAAGCAGGTGACTGTTG -3'
(R):5'- AGACAAGACTGCACTGAGTCTCAGG -3'

Sequencing Primer
(F):5'- TTTACAGGAGTGAACAGTTCGG -3'
(R):5'- CTGCACTGAGTCTCAGGTTAGG -3'
Posted On 2014-04-13