Incidental Mutation 'IGL01613:Golga1'
ID 92264
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 # IGL01613
Quality Score
Status
Chromosome 2
Chromosomal Location 38906167-38955553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38910138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 603 (M603T)
Ref Sequence ENSEMBL: ENSMUSP00000108471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000090993] [ENSMUST00000112850] [ENSMUST00000112862] [ENSMUST00000184996]
AlphaFold Q9CW79
Predicted Effect probably benign
Transcript: ENSMUST00000039165
AA Change: M628T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: M628T

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 benign
Transcript: ENSMUST00000112850
AA Change: M603T

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: M603T

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 probably benign
Transcript: ENSMUST00000184996
AA Change: M628T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: M628T

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: ENSMUST00000135049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149842
Predicted Effect probably benign
Transcript: ENSMUST00000153914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141467
Predicted Effect probably benign
Transcript: ENSMUST00000154210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204127
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign 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
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
IGL02874:Golga1 APN 2 38,929,104 (GRCm39) missense probably damaging 1.00
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 2013-12-09