Incidental Mutation 'IGL01472:Golga4'
ID88310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga4
Ensembl Gene ENSMUSG00000038708
Gene Namegolgi autoantigen, golgin subfamily a, 4
Synonymsgolgin-245, Olp-1
Accession Numbers

Genbank: NM_018748; MGI: 1859646  

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01472
Quality Score
Status
Chromosome9
Chromosomal Location118506267-118582519 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 118532574 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 207 (L207I)
Ref Sequence ENSEMBL: ENSMUSP00000148748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097] [ENSMUST00000212461]
Predicted Effect probably damaging
Transcript: ENSMUST00000084820
AA Change: L207I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: L207I

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 probably damaging
Transcript: ENSMUST00000212097
AA Change: L207I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212183
Predicted Effect probably damaging
Transcript: ENSMUST00000212461
AA Change: L216I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212593
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,554,536 probably null Het
Adamts4 T C 1: 171,252,850 F324S probably damaging Het
Alg10b T A 15: 90,227,697 L248Q possibly damaging Het
Antxr2 T A 5: 98,027,499 T90S probably benign Het
Arhgap21 C T 2: 20,849,581 E1657K probably damaging Het
Atp13a5 T G 16: 29,275,423 D803A probably damaging Het
Bzw2 T C 12: 36,109,796 D185G probably damaging Het
Camta2 A G 11: 70,684,124 S62P probably damaging Het
Cep85 T C 4: 134,134,166 Q599R possibly damaging Het
Chsy3 G A 18: 59,176,367 V231I probably damaging Het
Cnbd2 C T 2: 156,375,348 R457W probably damaging Het
Col20a1 A G 2: 181,007,832 T1036A probably benign Het
Colgalt2 T C 1: 152,506,878 Y494H probably damaging Het
Cox15 G T 19: 43,743,665 Y237* probably null Het
Cpne9 C A 6: 113,293,022 S281Y possibly damaging Het
D830013O20Rik G A 12: 73,364,316 noncoding transcript Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fam228a A G 12: 4,715,610 I267T possibly damaging Het
Fat4 G A 3: 38,888,070 A371T probably damaging Het
Gm1818 T C 12: 48,556,289 noncoding transcript Het
Gm5592 T C 7: 41,286,074 probably benign Het
Gtf3c1 A G 7: 125,651,054 probably benign Het
Hao1 C T 2: 134,554,230 E35K probably benign Het
Iqch T C 9: 63,547,934 I194V probably benign Het
Ism1 A T 2: 139,757,303 T392S probably damaging Het
Lcmt1 A G 7: 123,428,153 Y313C probably damaging Het
Loxl4 A G 19: 42,597,549 C718R probably damaging Het
Lyar T G 5: 38,224,722 I16R possibly damaging Het
Map3k20 T C 2: 72,355,553 probably benign Het
Mtus1 T C 8: 41,002,412 T941A probably benign Het
Myh8 A G 11: 67,288,379 probably benign Het
Myof T C 19: 37,923,076 D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 A534D probably damaging Het
Oas1c A G 5: 120,802,921 V269A probably damaging Het
Odf2 T A 2: 29,893,059 S5T probably damaging Het
Olfr1163 T A 2: 88,070,978 T135S possibly damaging Het
Olfr1412 T A 1: 92,588,972 M214K possibly damaging Het
Olfr481 T C 7: 108,081,204 S137P probably benign Het
Pbk A G 14: 65,816,710 T235A probably benign Het
Phrf1 T C 7: 141,256,490 probably benign Het
Prkci A G 3: 31,050,192 D568G probably damaging Het
Prom2 T A 2: 127,532,882 Y578F probably benign Het
Prph T C 15: 99,058,593 probably benign Het
Ryr3 A G 2: 112,672,248 V3527A probably benign Het
Scn10a C T 9: 119,617,763 V1400I probably damaging Het
Slc10a2 A G 8: 5,091,652 L244P probably damaging Het
Tardbp A G 4: 148,622,064 V96A probably benign Het
Tbc1d4 C A 14: 101,489,864 E504* probably null Het
Tmed3 T C 9: 89,702,875 E109G probably benign Het
Tnc C T 4: 64,006,419 R1014H probably benign Het
Tpcn2 C T 7: 145,267,378 R313Q probably damaging Het
Trim45 A G 3: 100,928,065 T455A probably benign Het
Txlna A G 4: 129,632,115 I313T probably damaging Het
Vmn1r202 A T 13: 22,501,989 I86K possibly damaging Het
Vmn2r14 C A 5: 109,216,314 E579* probably null Het
Wrn T A 8: 33,329,172 I8F possibly damaging Het
Zc3h18 A G 8: 122,416,657 probably benign Het
Zfyve26 A T 12: 79,276,343 H876Q probably benign Het
Znrf2 C T 6: 54,863,972 T177I probably damaging Het
Other mutations in Golga4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00711:Golga4 APN 9 118514271 critical splice donor site probably null
IGL00801:Golga4 APN 9 118538926 missense probably damaging 0.98
IGL01395:Golga4 APN 9 118535373 missense probably damaging 1.00
IGL01519:Golga4 APN 9 118527092 missense probably damaging 1.00
IGL01563:Golga4 APN 9 118527006 splice site probably benign
IGL02593:Golga4 APN 9 118555566 unclassified probably benign
IGL02803:Golga4 APN 9 118535460 missense probably benign
IGL02939:Golga4 APN 9 118535454 missense probably benign 0.01
IGL02939:Golga4 APN 9 118534632 missense probably damaging 1.00
IGL03123:Golga4 APN 9 118536885 missense probably damaging 1.00
IGL03334:Golga4 APN 9 118537233 splice site probably benign
F5770:Golga4 UTSW 9 118556075 missense possibly damaging 0.62
F6893:Golga4 UTSW 9 118553457 missense probably damaging 1.00
PIT4382001:Golga4 UTSW 9 118553453 missense possibly damaging 0.88
R0179:Golga4 UTSW 9 118560740 critical splice acceptor site probably null
R0279:Golga4 UTSW 9 118568993 missense probably benign 0.00
R0362:Golga4 UTSW 9 118555785 missense probably benign 0.13
R0973:Golga4 UTSW 9 118537273 missense probably damaging 1.00
R0973:Golga4 UTSW 9 118537273 missense probably damaging 1.00
R0974:Golga4 UTSW 9 118537273 missense probably damaging 1.00
R1128:Golga4 UTSW 9 118548784 missense probably benign 0.40
R1384:Golga4 UTSW 9 118565651 missense probably damaging 0.99
R1435:Golga4 UTSW 9 118535440 missense probably benign 0.00
R1513:Golga4 UTSW 9 118555732 missense probably benign 0.02
R1818:Golga4 UTSW 9 118572987 missense probably damaging 1.00
R2083:Golga4 UTSW 9 118532590 missense probably damaging 1.00
R2243:Golga4 UTSW 9 118556904 missense probably benign 0.06
R2355:Golga4 UTSW 9 118560742 missense probably benign 0.00
R2518:Golga4 UTSW 9 118556612 missense probably damaging 1.00
R2921:Golga4 UTSW 9 118559343 missense possibly damaging 0.49
R2922:Golga4 UTSW 9 118559343 missense possibly damaging 0.49
R2923:Golga4 UTSW 9 118559343 missense possibly damaging 0.49
R3121:Golga4 UTSW 9 118557380 missense possibly damaging 0.68
R3424:Golga4 UTSW 9 118534647 missense probably benign 0.16
R3909:Golga4 UTSW 9 118558736 missense possibly damaging 0.82
R3913:Golga4 UTSW 9 118538971 missense probably damaging 0.99
R4321:Golga4 UTSW 9 118556435 missense probably damaging 1.00
R4358:Golga4 UTSW 9 118551878 missense probably benign 0.16
R4483:Golga4 UTSW 9 118514186 missense probably damaging 1.00
R4515:Golga4 UTSW 9 118559008 missense probably benign 0.28
R4518:Golga4 UTSW 9 118559008 missense probably benign 0.28
R4519:Golga4 UTSW 9 118559008 missense probably benign 0.28
R4545:Golga4 UTSW 9 118556845 missense probably damaging 1.00
R4546:Golga4 UTSW 9 118556845 missense probably damaging 1.00
R4580:Golga4 UTSW 9 118557259 missense probably benign 0.00
R4918:Golga4 UTSW 9 118558145 missense probably damaging 1.00
R5007:Golga4 UTSW 9 118558300 missense probably benign
R5045:Golga4 UTSW 9 118565656 missense probably benign
R5232:Golga4 UTSW 9 118506558 critical splice donor site probably null
R5256:Golga4 UTSW 9 118556501 missense possibly damaging 0.93
R5502:Golga4 UTSW 9 118559057 nonsense probably null
R5567:Golga4 UTSW 9 118558183 missense probably damaging 1.00
R5576:Golga4 UTSW 9 118553534 missense probably benign 0.13
R5771:Golga4 UTSW 9 118558283 missense probably damaging 0.96
R5807:Golga4 UTSW 9 118527130 missense probably damaging 0.99
R5860:Golga4 UTSW 9 118558106 missense probably damaging 1.00
R6012:Golga4 UTSW 9 118559696 missense possibly damaging 0.90
R6285:Golga4 UTSW 9 118558627 nonsense probably null
R6299:Golga4 UTSW 9 118557370 missense probably benign 0.03
R6467:Golga4 UTSW 9 118536792 missense probably damaging 1.00
R6552:Golga4 UTSW 9 118514231 missense probably damaging 1.00
R6688:Golga4 UTSW 9 118514210 missense possibly damaging 0.66
R6965:Golga4 UTSW 9 118548779 missense probably damaging 1.00
R6987:Golga4 UTSW 9 118558532 missense probably benign
R7212:Golga4 UTSW 9 118536840 missense possibly damaging 0.80
R7426:Golga4 UTSW 9 118559495 missense probably benign
R7431:Golga4 UTSW 9 118559731 missense probably damaging 1.00
R7641:Golga4 UTSW 9 118557575 missense probably benign 0.05
R7727:Golga4 UTSW 9 118548702 missense probably damaging 1.00
R7729:Golga4 UTSW 9 118556063 missense possibly damaging 0.51
R7811:Golga4 UTSW 9 118532575 missense probably damaging 1.00
R7849:Golga4 UTSW 9 118559311 missense possibly damaging 0.93
R7891:Golga4 UTSW 9 118556366 missense probably damaging 1.00
R7932:Golga4 UTSW 9 118559311 missense possibly damaging 0.93
R7974:Golga4 UTSW 9 118556366 missense probably damaging 1.00
RF022:Golga4 UTSW 9 118557989 missense probably damaging 1.00
V7583:Golga4 UTSW 9 118556075 missense possibly damaging 0.62
Posted On2013-11-18