Incidental Mutation 'R9301:Golga5'
ID 704965
Institutional Source Beutler Lab
Gene Symbol Golga5
Ensembl Gene ENSMUSG00000021192
Gene Name golgin A5
Synonyms Ret-II
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9301 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 102435394-102464166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102443057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 330 (I330L)
Ref Sequence ENSEMBL: ENSMUSP00000021609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]
AlphaFold Q9QYE6
Predicted Effect probably benign
Transcript: ENSMUST00000021609
AA Change: I330L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: I330L

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 benign
Transcript: ENSMUST00000179218
AA Change: I330L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: I330L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,881,128 (GRCm39) N514K probably benign Het
Adss1 A T 12: 112,602,882 (GRCm39) R358W probably damaging Het
Anxa8 T A 14: 33,819,932 (GRCm39) I307N probably damaging Het
Atad5 T A 11: 79,986,845 (GRCm39) I644N probably damaging Het
Atp5f1a G T 18: 77,868,938 (GRCm39) L437F probably damaging Het
Babam1 A G 8: 71,855,684 (GRCm39) K259R possibly damaging Het
BC048562 T G 9: 108,323,054 (GRCm39) F130V probably damaging Het
Btf3l4b T A 13: 96,217,621 (GRCm39) K73* probably null Het
Camsap2 T A 1: 136,202,640 (GRCm39) probably null Het
Ccne2 A G 4: 11,192,881 (GRCm39) I27M probably benign Het
Cd302 A G 2: 60,082,793 (GRCm39) V177A possibly damaging Het
Cfap46 T C 7: 139,222,461 (GRCm39) K1172R Het
Cic T C 7: 24,991,117 (GRCm39) W2141R probably damaging Het
Cpeb3 A G 19: 37,151,473 (GRCm39) V301A possibly damaging Het
Cpsf3 A G 12: 21,350,112 (GRCm39) K277R possibly damaging Het
Cstl1 A G 2: 148,592,926 (GRCm39) H27R possibly damaging Het
Dapk1 T A 13: 60,866,125 (GRCm39) I188K possibly damaging Het
Dock6 T C 9: 21,729,111 (GRCm39) T1301A probably benign Het
Eml5 A T 12: 98,848,292 (GRCm39) C133* probably null Het
Ermap T A 4: 119,042,744 (GRCm39) I260F probably damaging Het
Fbxw22 T G 9: 109,215,653 (GRCm39) E198D possibly damaging Het
Flt4 T C 11: 49,516,241 (GRCm39) Y115H possibly damaging Het
Fmo9 A C 1: 166,494,794 (GRCm39) I369S probably damaging Het
Frmd4a T A 2: 4,157,904 (GRCm39) S6T probably benign Het
Helq C A 5: 100,927,158 (GRCm39) V643F probably damaging Het
Ino80d A T 1: 63,104,969 (GRCm39) L369H probably damaging Het
Kank1 A T 19: 25,388,798 (GRCm39) M824L probably benign Het
Lilrb4b T C 10: 51,356,801 (GRCm39) probably benign Het
Ltbp4 T A 7: 27,021,578 (GRCm39) D1003V probably damaging Het
Mapk8ip2 T C 15: 89,341,886 (GRCm39) S366P probably damaging Het
Mdga1 T C 17: 30,069,512 (GRCm39) H178R probably benign Het
Mlh3 A G 12: 85,292,613 (GRCm39) V1266A possibly damaging Het
Nrp1 A G 8: 129,089,859 (GRCm39) E78G probably damaging Het
Or1l4 A T 2: 37,091,255 (GRCm39) M1L probably benign Het
Or4z4 A T 19: 12,076,826 (GRCm39) M59K probably damaging Het
Or5d16 A G 2: 87,773,297 (GRCm39) V225A probably benign Het
Or8k33 A G 2: 86,383,818 (GRCm39) S217P possibly damaging Het
Ovch2 A G 7: 107,395,815 (GRCm39) S68P probably damaging Het
Pappa2 T A 1: 158,672,614 (GRCm39) I1110F probably damaging Het
Pcyox1 A C 6: 86,369,241 (GRCm39) L195R possibly damaging Het
Pde11a A G 2: 75,848,217 (GRCm39) L870P probably damaging Het
Pgpep1 G A 8: 71,103,418 (GRCm39) T152M probably damaging Het
Pik3c2a A T 7: 115,945,413 (GRCm39) D1464E probably damaging Het
Plcb1 A G 2: 135,167,610 (GRCm39) K468R possibly damaging Het
Postn C T 3: 54,292,659 (GRCm39) T742I probably benign Het
Ppm1j T A 3: 104,691,057 (GRCm39) Y274N probably damaging Het
Ppp2cb T C 8: 34,090,038 (GRCm39) C32R possibly damaging Het
Prmt9 T A 8: 78,282,374 (GRCm39) Y90* probably null Het
Ptk2 T C 15: 73,146,346 (GRCm39) Y441C probably damaging Het
Rabggta T A 14: 55,957,083 (GRCm39) I266L probably benign Het
Rft1 C T 14: 30,398,812 (GRCm39) R261W probably damaging Het
Rsrc1 C T 3: 67,197,680 (GRCm39) A195V probably damaging Het
Rtkn2 T G 10: 67,871,677 (GRCm39) L355R possibly damaging Het
Runx1t1 A T 4: 13,875,477 (GRCm39) D427V possibly damaging Het
Slc15a4 T G 5: 127,673,812 (GRCm39) H534P probably benign Het
Slc16a7 T C 10: 125,066,880 (GRCm39) N253S probably damaging Het
Slc29a1 A G 17: 45,897,063 (GRCm39) S408P probably damaging Het
Slc52a2 G A 15: 76,424,406 (GRCm39) A215T probably damaging Het
Smc1b T A 15: 85,011,995 (GRCm39) I126L probably damaging Het
Sycp2 A T 2: 178,023,650 (GRCm39) N455K probably benign Het
Tbck T C 3: 132,543,738 (GRCm39) V863A probably benign Het
Tfap2c A G 2: 172,395,347 (GRCm39) M263V probably benign Het
Tmem45a A G 16: 56,627,134 (GRCm39) V245A probably damaging Het
Top2a C T 11: 98,897,790 (GRCm39) G759D probably damaging Het
Traf5 A G 1: 191,729,489 (GRCm39) S218P Het
Tsfm T C 10: 126,866,502 (GRCm39) R20G probably benign Het
Ugt2a2 G T 5: 87,608,382 (GRCm39) Q486K probably damaging Het
Usp34 T A 11: 23,422,951 (GRCm39) D3108E Het
Wnt11 A G 7: 98,495,796 (GRCm39) Y100C probably damaging Het
Zbtb49 A G 5: 38,370,931 (GRCm39) C317R probably benign Het
Other mutations in Golga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Golga5 APN 12 102,460,073 (GRCm39) missense probably damaging 0.99
IGL01487:Golga5 APN 12 102,461,955 (GRCm39) intron probably benign
IGL01585:Golga5 APN 12 102,445,954 (GRCm39) missense probably benign
IGL01901:Golga5 APN 12 102,446,061 (GRCm39) critical splice donor site probably null
IGL02063:Golga5 APN 12 102,438,418 (GRCm39) missense probably benign 0.00
IGL02118:Golga5 APN 12 102,462,011 (GRCm39) missense possibly damaging 0.67
IGL02568:Golga5 APN 12 102,438,338 (GRCm39) missense probably benign 0.33
golgotha UTSW 12 102,450,835 (GRCm39) critical splice donor site probably null
BB007:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
BB017:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
FR4976:Golga5 UTSW 12 102,441,919 (GRCm39) splice site probably null
R0244:Golga5 UTSW 12 102,442,447 (GRCm39) missense probably benign
R0432:Golga5 UTSW 12 102,442,467 (GRCm39) missense possibly damaging 0.50
R0552:Golga5 UTSW 12 102,450,752 (GRCm39) missense possibly damaging 0.75
R0659:Golga5 UTSW 12 102,442,467 (GRCm39) missense possibly damaging 0.50
R1244:Golga5 UTSW 12 102,438,554 (GRCm39) missense probably benign 0.01
R1542:Golga5 UTSW 12 102,440,979 (GRCm39) missense probably damaging 1.00
R1791:Golga5 UTSW 12 102,458,390 (GRCm39) missense possibly damaging 0.48
R2310:Golga5 UTSW 12 102,458,420 (GRCm39) missense probably damaging 0.99
R5110:Golga5 UTSW 12 102,438,336 (GRCm39) missense probably benign 0.02
R5704:Golga5 UTSW 12 102,455,707 (GRCm39) missense probably benign 0.00
R6228:Golga5 UTSW 12 102,450,740 (GRCm39) missense probably benign 0.00
R6229:Golga5 UTSW 12 102,450,740 (GRCm39) missense probably benign 0.00
R6241:Golga5 UTSW 12 102,438,732 (GRCm39) missense probably damaging 0.96
R7236:Golga5 UTSW 12 102,441,034 (GRCm39) critical splice donor site probably null
R7355:Golga5 UTSW 12 102,438,494 (GRCm39) missense possibly damaging 0.83
R7404:Golga5 UTSW 12 102,450,778 (GRCm39) missense probably damaging 0.97
R7493:Golga5 UTSW 12 102,450,835 (GRCm39) critical splice donor site probably null
R7930:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
R8062:Golga5 UTSW 12 102,450,739 (GRCm39) missense probably benign
R8231:Golga5 UTSW 12 102,438,558 (GRCm39) missense probably benign
R8765:Golga5 UTSW 12 102,445,963 (GRCm39) missense probably benign 0.01
R9083:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9085:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9086:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9655:Golga5 UTSW 12 102,446,008 (GRCm39) missense possibly damaging 0.55
Z1177:Golga5 UTSW 12 102,438,264 (GRCm39) start gained probably benign
Z1187:Golga5 UTSW 12 102,440,853 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGGATTTGAAAAGCATAGTGCC -3'
(R):5'- AGGTGCTATAGTACAGAGGCATC -3'

Sequencing Primer
(F):5'- GATTTGAAAAGCATAGTGCCACCATC -3'
(R):5'- AGGCATCCCTCCCTCCC -3'
Posted On 2022-03-25