Incidental Mutation 'IGL02744:Golga1'
ID306009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga1
Ensembl Gene ENSMUSG00000026754
Gene Namegolgi autoantigen, golgin subfamily a, 1
Synonyms0710001G09Rik, Golgi97, golgin-97, 2210418B03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL02744
Quality Score
Status
Chromosome2
Chromosomal Location39016155-39065541 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39018474 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 713 (S713P)
Ref Sequence ENSEMBL: ENSMUSP00000108471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000090993] [ENSMUST00000112850] [ENSMUST00000112862] [ENSMUST00000184996]
Predicted Effect probably damaging
Transcript: ENSMUST00000039165
AA Change: S738P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: S738P

DomainStartEndE-ValueType
coiled coil region 51 104 N/A INTRINSIC
coiled coil region 126 169 N/A INTRINSIC
coiled coil region 190 555 N/A INTRINSIC
coiled coil region 599 647 N/A INTRINSIC
Grip 682 728 5.68e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090993
SMART Domains Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755

DomainStartEndE-ValueType
Pfam:P16-Arc 8 153 4.6e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112850
AA Change: S713P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: S713P

DomainStartEndE-ValueType
coiled coil region 53 144 N/A INTRINSIC
coiled coil region 165 530 N/A INTRINSIC
coiled coil region 574 622 N/A INTRINSIC
Grip 657 703 5.68e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112862
SMART Domains Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755

DomainStartEndE-ValueType
Pfam:P16-Arc 9 153 2.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149842
Predicted Effect probably benign
Transcript: ENSMUST00000153914
Predicted Effect unknown
Transcript: ENSMUST00000154210
AA Change: S61P
Predicted Effect probably damaging
Transcript: ENSMUST00000184996
AA Change: S738P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: S738P

DomainStartEndE-ValueType
coiled coil region 51 104 N/A INTRINSIC
coiled coil region 126 169 N/A INTRINSIC
coiled coil region 190 555 N/A INTRINSIC
coiled coil region 599 647 N/A INTRINSIC
Grip 682 728 5.68e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204825
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 encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice exhibit tremors and limb grasping behavior at two months of age. A variable severity of hearing loss was also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 105,078,536 M89V unknown Het
Actl11 C A 9: 107,929,862 H461Q probably benign Het
Aox4 A T 1: 58,255,552 R973S possibly damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cep350 A T 1: 155,931,533 S713T probably damaging Het
Doxl2 A G 6: 48,975,315 E58G probably benign Het
Epha5 T C 5: 84,107,989 I458V probably benign Het
Galnt17 A G 5: 131,111,775 I168T probably damaging Het
Gli3 T C 13: 15,613,886 probably null Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm8206 T C 14: 6,022,488 I4V possibly damaging Het
Gm8906 C T 5: 11,505,373 T103I possibly damaging Het
Ing5 T C 1: 93,816,488 M172T probably damaging Het
Lyn A G 4: 3,738,808 T27A probably benign Het
Olfr1367 A G 13: 21,346,994 Y22C probably damaging Het
Pou5f1 T C 17: 35,509,414 V40A probably damaging Het
Pramef12 A T 4: 144,392,923 L358Q probably damaging Het
Prdm16 A G 4: 154,345,453 L353P probably damaging Het
Psg18 T A 7: 18,349,402 Q276L probably benign Het
Ralgapb A C 2: 158,446,151 Q369H probably damaging Het
Slc44a4 A G 17: 34,927,800 N300D probably damaging Het
Slc6a15 A T 10: 103,418,033 E610V probably benign Het
Slc8a2 T C 7: 16,145,029 V480A possibly damaging Het
Spg7 T C 8: 123,093,661 F617S probably damaging Het
Srcap A G 7: 127,534,666 D863G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suox T C 10: 128,671,217 E314G probably benign Het
Tln2 T A 9: 67,229,376 K1276* probably null Het
Tmem72 A G 6: 116,695,490 L130P probably damaging Het
Ttll1 T C 15: 83,489,577 Y345C probably benign Het
Ush2a A T 1: 188,358,717 probably null Het
Xpo6 G A 7: 126,108,448 probably benign Het
Zc3h14 A T 12: 98,784,975 Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 M66K probably benign Het
Other mutations in Golga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Golga1 APN 2 39052973 nonsense probably null
IGL00949:Golga1 APN 2 39041255 missense probably damaging 0.98
IGL01133:Golga1 APN 2 39023472 missense probably benign
IGL01592:Golga1 APN 2 39063282 missense probably damaging 1.00
IGL01613:Golga1 APN 2 39020126 missense probably benign 0.14
IGL01819:Golga1 APN 2 39034149 missense probably benign 0.00
IGL01871:Golga1 APN 2 39050198 splice site probably benign
IGL02819:Golga1 APN 2 39039078 missense probably null 0.97
IGL02874:Golga1 APN 2 39039092 missense probably damaging 1.00
R0167:Golga1 UTSW 2 39047648 missense probably benign 0.00
R0245:Golga1 UTSW 2 39035259 missense probably benign 0.00
R0389:Golga1 UTSW 2 39018441 missense probably damaging 1.00
R0443:Golga1 UTSW 2 39018441 missense probably damaging 1.00
R0906:Golga1 UTSW 2 39047643 missense probably damaging 0.99
R1508:Golga1 UTSW 2 39023249 missense probably benign
R1901:Golga1 UTSW 2 39047780 splice site probably null
R1964:Golga1 UTSW 2 39047087 missense probably benign 0.00
R2228:Golga1 UTSW 2 39023171 missense probably benign 0.02
R3734:Golga1 UTSW 2 39050170 missense possibly damaging 0.88
R4407:Golga1 UTSW 2 39019641 unclassified probably null
R4504:Golga1 UTSW 2 39023454 missense probably benign 0.00
R4973:Golga1 UTSW 2 39039106 missense probably damaging 0.99
R5049:Golga1 UTSW 2 39047735 missense probably damaging 1.00
R5600:Golga1 UTSW 2 39020099 missense probably damaging 1.00
R6008:Golga1 UTSW 2 39047087 missense probably benign 0.00
R6374:Golga1 UTSW 2 39034068 missense probably benign
R6388:Golga1 UTSW 2 39023171 missense probably benign 0.02
R6601:Golga1 UTSW 2 39020106 missense probably damaging 1.00
R7067:Golga1 UTSW 2 39047719 missense probably benign 0.00
X0025:Golga1 UTSW 2 39052062 missense probably damaging 1.00
Posted On2015-04-16