Incidental Mutation 'IGL01901:Golga5'
ID179547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga5
Ensembl Gene ENSMUSG00000021192
Gene Namegolgi autoantigen, golgin subfamily a, 5
SynonymsRet-II
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL01901
Quality Score
Status
Chromosome12
Chromosomal Location102469135-102497907 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 102479802 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]
Predicted Effect probably null
Transcript: ENSMUST00000021609
SMART Domains Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192

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 null
Transcript: ENSMUST00000179218
SMART Domains Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192

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: ENSMUST00000222744
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,682,584 F1172L probably benign Het
Adam2 A G 14: 66,035,229 probably benign Het
Aldh1a7 T G 19: 20,717,739 Y154S probably damaging Het
BC117090 C A 16: 36,334,263 A11S probably damaging Het
Casc3 A G 11: 98,823,121 D393G probably damaging Het
Cd180 A G 13: 102,706,428 I661V probably benign Het
Cdh1 T C 8: 106,657,760 S287P probably damaging Het
Clnk T C 5: 38,794,978 N6S probably damaging Het
Cyp17a1 C T 19: 46,671,092 V100M possibly damaging Het
Ddhd2 A G 8: 25,748,594 V53A probably damaging Het
Elovl7 T A 13: 108,274,393 probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14180 A G 11: 99,734,227 S22P unknown Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpr162 A T 6: 124,861,407 F93L possibly damaging Het
Kcnh8 G A 17: 52,894,120 probably benign Het
Lamp3 A T 16: 19,673,419 F358L probably damaging Het
Mdn1 T G 4: 32,669,591 D409E probably damaging Het
Ms4a10 T C 19: 10,963,010 D211G probably benign Het
Ms4a3 T C 19: 11,639,266 E4G possibly damaging Het
Myo15 A G 11: 60,527,434 probably benign Het
Olfr1257 A G 2: 89,881,482 I219V probably damaging Het
Olfr1448 T C 19: 12,919,583 H242R probably damaging Het
Olfr612 A T 7: 103,538,970 L88Q probably damaging Het
Olfr638 A G 7: 104,004,067 H264R probably damaging Het
Olfr698 A G 7: 106,752,545 V281A possibly damaging Het
Olfr815 A G 10: 129,901,853 F286L probably benign Het
Penk T C 4: 4,134,465 I61V probably benign Het
Pkhd1 T A 1: 20,220,083 K2860N probably benign Het
Prtg C T 9: 72,855,066 P492S probably damaging Het
Tdrd7 T C 4: 45,989,225 probably benign Het
Terf2ip A G 8: 112,012,068 N196S probably benign Het
Tgtp1 T C 11: 48,987,555 N108D possibly damaging Het
Thumpd3 A G 6: 113,059,971 H277R probably benign Het
Tshz2 T A 2: 169,885,536 L215Q possibly damaging Het
Ube3c T A 5: 29,668,007 V1015E probably damaging Het
Utrn T A 10: 12,640,928 K2307N probably damaging Het
Vmn1r75 A G 7: 11,880,812 Y157C probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 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
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
FR4976:Golga5 UTSW 12 102475660 intron 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
R1542:Golga5 UTSW 12 102474720 missense probably damaging 1.00
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
Posted On2014-05-07