Incidental Mutation 'R4504:Golga1'
ID 331915
Institutional Source Beutler Lab
Gene Symbol Golga1
Ensembl Gene ENSMUSG00000026754
Gene Name golgin A1
Synonyms Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik
MMRRC Submission 041755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4504 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 38906167-38955553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38913466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 482 (I482V)
Ref Sequence ENSEMBL: ENSMUSP00000108471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000112850] [ENSMUST00000184996]
AlphaFold Q9CW79
Predicted Effect probably benign
Transcript: ENSMUST00000039165
AA Change: I507V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: I507V

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: ENSMUST00000083193
Predicted Effect probably benign
Transcript: ENSMUST00000112850
AA Change: I482V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: I482V

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 noncoding transcript
Transcript: ENSMUST00000149842
Predicted Effect probably benign
Transcript: ENSMUST00000153914
Predicted Effect probably benign
Transcript: ENSMUST00000184996
AA Change: I507V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: I507V

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: ENSMUST00000154210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204127
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A G 14: 44,407,899 (GRCm39) S45P probably damaging Het
Adgrg4 C T X: 55,961,802 (GRCm39) R1124C possibly damaging Het
Anxa13 T C 15: 58,228,052 (GRCm39) noncoding transcript Het
Arhgap32 C A 9: 32,093,135 (GRCm39) probably null Het
Carm1 T C 9: 21,480,822 (GRCm39) F99L probably damaging Het
Dennd1b A G 1: 139,013,665 (GRCm39) E253G possibly damaging Het
Dsg4 A G 18: 20,594,493 (GRCm39) I541V probably benign Het
Dstyk A G 1: 132,362,127 (GRCm39) T186A possibly damaging Het
Ear1 A T 14: 44,056,721 (GRCm39) V49D probably benign Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fndc8 T A 11: 82,783,226 (GRCm39) M69K probably benign Het
Hivep3 G A 4: 119,590,990 (GRCm39) probably benign Het
Igkv13-85 A G 6: 68,907,356 (GRCm39) F82L probably damaging Het
Itih1 G A 14: 30,657,842 (GRCm39) R410C probably damaging Het
Kcnc2 T C 10: 112,291,699 (GRCm39) W296R probably damaging Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Kif3b T C 2: 153,165,564 (GRCm39) probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Notch1 A G 2: 26,362,189 (GRCm39) V1022A probably benign Het
Npc1l1 A G 11: 6,178,741 (GRCm39) L223S possibly damaging Het
Or11m3 T C 15: 98,396,015 (GRCm39) F221L probably benign Het
Or4c10 C T 2: 89,760,695 (GRCm39) P181S possibly damaging Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pbxip1 A G 3: 89,353,690 (GRCm39) D281G possibly damaging Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Pcsk5 C T 19: 17,429,319 (GRCm39) C1553Y probably damaging Het
Pdgfc A C 3: 81,082,298 (GRCm39) M164L probably benign Het
Pdzd8 T C 19: 59,333,880 (GRCm39) Y47C probably damaging Het
Pip5k1c T A 10: 81,150,945 (GRCm39) I633N probably damaging Het
Pkn1 G A 8: 84,419,556 (GRCm39) R16* probably null Het
Pole2 A G 12: 69,269,242 (GRCm39) V85A probably benign Het
Ppp4c A C 7: 126,386,637 (GRCm39) L150R probably damaging Het
Pramel25 G C 4: 143,520,553 (GRCm39) E102Q probably benign Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Rnf144a T A 12: 26,377,302 (GRCm39) R92S probably benign Het
Sbno2 C A 10: 79,896,326 (GRCm39) R898L possibly damaging Het
Scnn1b A C 7: 121,511,698 (GRCm39) N370T probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Vps13a T C 19: 16,672,866 (GRCm39) E1302G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGCAGAACTGTGACCTAG -3'
(R):5'- CCAGAATATCCACACTCTGGG -3'

Sequencing Primer
(F):5'- ACTGTGACCTAGGGCAGTG -3'
(R):5'- ATCCACACTCTGGGTAGCC -3'
Posted On 2015-07-21