Incidental Mutation 'IGL02874:Golga1'
ID 362639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga1
Ensembl Gene ENSMUSG00000026754
Gene Name golgin A1
Synonyms Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02874
Quality Score
Status
Chromosome 2
Chromosomal Location 38906167-38955553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38929104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 338 (L338P)
Ref Sequence ENSEMBL: ENSMUSP00000139001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000112850] [ENSMUST00000149810] [ENSMUST00000184996]
AlphaFold Q9CW79
Predicted Effect probably damaging
Transcript: ENSMUST00000039165
AA Change: L338P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: L338P

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 damaging
Transcript: ENSMUST00000112850
AA Change: L313P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: L313P

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 noncoding transcript
Transcript: ENSMUST00000126520
Predicted Effect probably benign
Transcript: ENSMUST00000149810
SMART Domains Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754

DomainStartEndE-ValueType
coiled coil region 1 48 N/A INTRINSIC
coiled coil region 70 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153914
Predicted Effect probably damaging
Transcript: ENSMUST00000184996
AA Change: L338P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: L338P

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 60,039,701 (GRCm39) Y876H probably damaging Het
Cfap65 G A 1: 74,950,267 (GRCm39) Q1161* probably null Het
Chrd C T 16: 20,553,946 (GRCm39) T282I probably damaging Het
Clasp1 T C 1: 118,479,773 (GRCm39) S749P possibly damaging Het
Clec4a3 T A 6: 122,944,519 (GRCm39) N188K probably benign Het
Dmpk A G 7: 18,820,926 (GRCm39) M181V possibly damaging Het
Dnah7a A T 1: 53,644,973 (GRCm39) M1021K possibly damaging Het
Exoc5 A T 14: 49,288,903 (GRCm39) N48K probably benign Het
Hdc T A 2: 126,443,596 (GRCm39) T334S probably benign Het
Idh2 A G 7: 79,747,621 (GRCm39) S300P probably damaging Het
Igkv4-78 T C 6: 69,037,190 (GRCm39) I7V probably benign Het
Impdh1 A T 6: 29,203,155 (GRCm39) M389K probably damaging Het
Kcnd2 T A 6: 21,216,922 (GRCm39) C209S probably damaging Het
Or11g25 G T 14: 50,723,686 (GRCm39) C257F possibly damaging Het
Or4q3 A T 14: 50,583,583 (GRCm39) H105Q probably damaging Het
Or56b2 C A 7: 104,337,230 (GRCm39) Q3K probably benign Het
Ovol1 T C 19: 5,601,209 (GRCm39) K194R probably damaging Het
Pcdh17 A T 14: 84,685,680 (GRCm39) I716F possibly damaging Het
Pck1 T C 2: 172,997,042 (GRCm39) I228T probably damaging Het
Pla2g2a T C 4: 138,562,159 (GRCm39) F132L probably benign Het
Prex1 A G 2: 166,426,967 (GRCm39) V1086A probably damaging Het
Rasd2 T C 8: 75,945,327 (GRCm39) I52T probably damaging Het
Robo1 T C 16: 72,809,806 (GRCm39) Y1185H probably damaging Het
Sema6c T G 3: 95,077,688 (GRCm39) V441G probably damaging Het
Slc9a4 A T 1: 40,623,198 (GRCm39) M146L probably benign Het
Thsd4 C T 9: 60,160,013 (GRCm39) V358I probably damaging Het
Ttbk1 T C 17: 46,781,151 (GRCm39) E474G probably benign Het
Ttbk2 T A 2: 120,576,193 (GRCm39) D928V probably damaging Het
Ttn C T 2: 76,641,522 (GRCm39) G11779S probably damaging Het
Wfdc6b T C 2: 164,459,368 (GRCm39) probably null Het
Other mutations in Golga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Golga1 APN 2 38,942,985 (GRCm39) nonsense probably null
IGL00949:Golga1 APN 2 38,931,267 (GRCm39) missense probably damaging 0.98
IGL01133:Golga1 APN 2 38,913,484 (GRCm39) missense probably benign
IGL01592:Golga1 APN 2 38,953,294 (GRCm39) missense probably damaging 1.00
IGL01613:Golga1 APN 2 38,910,138 (GRCm39) missense probably benign 0.14
IGL01819:Golga1 APN 2 38,924,161 (GRCm39) missense probably benign 0.00
IGL01871:Golga1 APN 2 38,940,210 (GRCm39) splice site probably benign
IGL02744:Golga1 APN 2 38,908,486 (GRCm39) missense probably damaging 1.00
IGL02819:Golga1 APN 2 38,929,090 (GRCm39) missense probably null 0.97
R0167:Golga1 UTSW 2 38,937,660 (GRCm39) missense probably benign 0.00
R0245:Golga1 UTSW 2 38,925,271 (GRCm39) missense probably benign 0.00
R0389:Golga1 UTSW 2 38,908,453 (GRCm39) missense probably damaging 1.00
R0443:Golga1 UTSW 2 38,908,453 (GRCm39) missense probably damaging 1.00
R0906:Golga1 UTSW 2 38,937,655 (GRCm39) missense probably damaging 0.99
R1508:Golga1 UTSW 2 38,913,261 (GRCm39) missense probably benign
R1901:Golga1 UTSW 2 38,937,792 (GRCm39) splice site probably null
R1964:Golga1 UTSW 2 38,937,099 (GRCm39) missense probably benign 0.00
R2228:Golga1 UTSW 2 38,913,183 (GRCm39) missense probably benign 0.02
R3734:Golga1 UTSW 2 38,940,182 (GRCm39) missense possibly damaging 0.88
R4407:Golga1 UTSW 2 38,909,653 (GRCm39) splice site probably null
R4504:Golga1 UTSW 2 38,913,466 (GRCm39) missense probably benign 0.00
R4973:Golga1 UTSW 2 38,929,118 (GRCm39) missense probably damaging 0.99
R5049:Golga1 UTSW 2 38,937,747 (GRCm39) missense probably damaging 1.00
R5600:Golga1 UTSW 2 38,910,111 (GRCm39) missense probably damaging 1.00
R6008:Golga1 UTSW 2 38,937,099 (GRCm39) missense probably benign 0.00
R6374:Golga1 UTSW 2 38,924,080 (GRCm39) missense probably benign
R6388:Golga1 UTSW 2 38,913,183 (GRCm39) missense probably benign 0.02
R6601:Golga1 UTSW 2 38,910,118 (GRCm39) missense probably damaging 1.00
R7067:Golga1 UTSW 2 38,937,731 (GRCm39) missense probably benign 0.00
R7816:Golga1 UTSW 2 38,942,110 (GRCm39) missense probably damaging 1.00
R9277:Golga1 UTSW 2 38,914,255 (GRCm39) missense probably benign 0.19
R9581:Golga1 UTSW 2 38,909,573 (GRCm39) missense probably damaging 1.00
X0025:Golga1 UTSW 2 38,942,074 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18