Incidental Mutation 'R1964:Golga1'
ID 217062
Institutional Source Beutler Lab
Gene Symbol Golga1
Ensembl Gene ENSMUSG00000026754
Gene Name golgin A1
Synonyms Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik
MMRRC Submission 039977-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R1964 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 38906167-38955553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38937099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 161 (V161A)
Ref Sequence ENSEMBL: ENSMUSP00000145206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000112850] [ENSMUST00000149810] [ENSMUST00000184996]
AlphaFold Q9CW79
Predicted Effect probably benign
Transcript: ENSMUST00000039165
AA Change: V260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: V260A

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: ENSMUST00000112850
AA Change: V235A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: V235A

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: ENSMUST00000136261
Predicted Effect probably benign
Transcript: ENSMUST00000149810
AA Change: V161A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754
AA Change: V161A

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 benign
Transcript: ENSMUST00000184996
AA Change: V260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: V260A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,324 (GRCm39) H158Y probably damaging Het
1810009J06Rik T A 6: 40,945,141 (GRCm39) C207S probably damaging Het
Aadac T A 3: 59,944,759 (GRCm39) probably null Het
Abca6 T A 11: 110,075,502 (GRCm39) I1330F probably damaging Het
Adar A T 3: 89,653,202 (GRCm39) S263C probably benign Het
Adra2b T C 2: 127,205,734 (GRCm39) Y84H probably damaging Het
Arnt2 A T 7: 83,992,997 (GRCm39) V181E possibly damaging Het
Atg7 T C 6: 114,683,191 (GRCm39) L418P probably damaging Het
Atp2c1 A G 9: 105,323,322 (GRCm39) L181P probably damaging Het
Awat2 G A X: 99,448,165 (GRCm39) P148S probably damaging Het
Birc6 A G 17: 74,941,880 (GRCm39) M2737V possibly damaging Het
Ccdc81 A G 7: 89,535,361 (GRCm39) C292R probably benign Het
Cd14 T A 18: 36,859,392 (GRCm39) E21V probably damaging Het
Cdc14b A C 13: 64,363,351 (GRCm39) C303W probably damaging Het
Cdh23 T C 10: 60,221,001 (GRCm39) I1248V probably benign Het
Ceacam1 T C 7: 25,174,133 (GRCm39) D174G probably benign Het
Cgas T G 9: 78,344,737 (GRCm39) Y228S probably damaging Het
Chd7 A G 4: 8,865,978 (GRCm39) M717V probably damaging Het
Cib1 T C 7: 79,882,120 (GRCm39) T20A possibly damaging Het
Clec4d A G 6: 123,239,319 (GRCm39) K9R probably benign Het
Cntnap1 C A 11: 101,068,850 (GRCm39) S131* probably null Het
Crybg1 T C 10: 43,834,326 (GRCm39) K1581R probably damaging Het
Csf2 T G 11: 54,139,284 (GRCm39) T100P probably benign Het
Csrp2 T A 10: 110,767,894 (GRCm39) D26E probably benign Het
Cul1 T C 6: 47,479,505 (GRCm39) V257A probably damaging Het
Cul4a G A 8: 13,186,406 (GRCm39) M505I possibly damaging Het
Cul4a T C 8: 13,186,854 (GRCm39) M530T probably benign Het
Dcp2 T C 18: 44,529,038 (GRCm39) M51T possibly damaging Het
Ddx60 T A 8: 62,401,903 (GRCm39) C260S probably benign Het
Dennd2c G A 3: 103,073,807 (GRCm39) R851H probably damaging Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Edem1 T C 6: 108,821,908 (GRCm39) W322R probably benign Het
Egflam T C 15: 7,276,586 (GRCm39) T527A probably damaging Het
Ephb1 T A 9: 101,848,322 (GRCm39) M659L possibly damaging Het
Fbxl2 A G 9: 113,818,237 (GRCm39) I203T probably benign Het
Gabbr1 G A 17: 37,359,351 (GRCm39) G109R probably damaging Het
Gabra2 T C 5: 71,171,793 (GRCm39) I148V possibly damaging Het
Gps2 T G 11: 69,807,246 (GRCm39) S301A probably benign Het
H2-D1 T C 17: 35,482,595 (GRCm39) L105P probably benign Het
Igdcc4 T C 9: 65,030,051 (GRCm39) V367A probably benign Het
Igkv4-69 T G 6: 69,260,782 (GRCm39) Y115S probably benign Het
Itga5 A G 15: 103,262,741 (GRCm39) L309P probably damaging Het
Itih1 A G 14: 30,651,580 (GRCm39) Y871H probably damaging Het
Itpr2 T A 6: 146,013,191 (GRCm39) N2662I probably damaging Het
Kctd19 T A 8: 106,115,102 (GRCm39) E486D probably damaging Het
Kif5b C T 18: 6,209,059 (GRCm39) R901Q possibly damaging Het
Kmt2a G A 9: 44,731,941 (GRCm39) S2792F probably benign Het
Magi3 A G 3: 103,927,718 (GRCm39) V1023A probably damaging Het
Mapk9 C A 11: 49,745,160 (GRCm39) R25S probably null Het
Memo1 T C 17: 74,552,003 (GRCm39) T98A possibly damaging Het
Mill2 A G 7: 18,590,529 (GRCm39) K203R probably damaging Het
Mios T A 6: 8,215,798 (GRCm39) H331Q probably damaging Het
Muc6 G T 7: 141,226,329 (GRCm39) S1566* probably null Het
Muc6 A G 7: 141,226,330 (GRCm39) probably benign Het
Napsa T C 7: 44,231,109 (GRCm39) F113L probably benign Het
Or5ac16 T A 16: 59,022,271 (GRCm39) I173F possibly damaging Het
Or9m1 A G 2: 87,734,011 (GRCm39) V3A probably benign Het
Oscp1 T G 4: 125,977,415 (GRCm39) V226G possibly damaging Het
Osgin2 G T 4: 15,998,358 (GRCm39) S421R probably damaging Het
Pclaf A G 9: 65,800,677 (GRCm39) N50D probably damaging Het
Pdgfc A T 3: 81,082,292 (GRCm39) I162F probably benign Het
Plag1 T C 4: 3,903,956 (GRCm39) T412A probably benign Het
Pogz A T 3: 94,785,504 (GRCm39) T820S probably benign Het
Ptpn9 T A 9: 56,967,196 (GRCm39) V473D probably damaging Het
Qdpr A T 5: 45,596,660 (GRCm39) M66K possibly damaging Het
Qrich1 A G 9: 108,411,621 (GRCm39) N382S possibly damaging Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rgl1 T A 1: 152,424,855 (GRCm39) I375F probably damaging Het
Rif1 C T 2: 51,988,421 (GRCm39) T720I probably benign Het
Rilp A T 11: 75,401,328 (GRCm39) Q95L probably benign Het
Rnf169 T A 7: 99,574,732 (GRCm39) N621I probably damaging Het
Rps27a T C 11: 29,497,229 (GRCm39) K27R probably null Het
Sar1a T C 10: 61,520,947 (GRCm39) V54A probably benign Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Sdk2 G A 11: 113,671,843 (GRCm39) Q2102* probably null Het
Serpina1e T A 12: 103,917,466 (GRCm39) I68F probably damaging Het
Serpinb9e A C 13: 33,437,474 (GRCm39) Q119P probably benign Het
Sh3tc2 A T 18: 62,124,226 (GRCm39) K965* probably null Het
Slc16a1 A T 3: 104,556,782 (GRCm39) S56C probably damaging Het
Slc26a11 T A 11: 119,271,020 (GRCm39) L563Q possibly damaging Het
Smarca2 G T 19: 26,650,124 (GRCm39) E24* probably null Het
Smgc G A 15: 91,744,468 (GRCm39) G239D probably damaging Het
Sos2 A T 12: 69,663,636 (GRCm39) M616K possibly damaging Het
Tet1 T A 10: 62,648,726 (GRCm39) D1902V possibly damaging Het
Thap2 C T 10: 115,220,152 (GRCm39) C10Y probably damaging Het
Tln2 T C 9: 67,249,417 (GRCm39) D890G probably benign Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Ubqln5 A T 7: 103,778,095 (GRCm39) V243E possibly damaging Het
Utrn A T 10: 12,560,181 (GRCm39) D1369E probably damaging Het
Vcan A G 13: 89,840,861 (GRCm39) V1561A probably benign Het
Vmn1r70 T C 7: 10,367,737 (GRCm39) F56S possibly damaging Het
Vmn2r25 A G 6: 123,800,254 (GRCm39) L696S possibly damaging Het
Washc2 A G 6: 116,185,948 (GRCm39) T53A probably damaging Het
Wnk1 T A 6: 119,911,343 (GRCm39) T2417S possibly damaging Het
Zbtb49 A T 5: 38,361,105 (GRCm39) C12* probably null Het
Zfp472 C A 17: 33,196,848 (GRCm39) P308T 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
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
Predicted Primers PCR Primer
(F):5'- GGTATGTACCACCACATCTGG -3'
(R):5'- AAGCCAAGGAGCCTTTACAC -3'

Sequencing Primer
(F):5'- GGAAATACCATGTCTTCTGTTCAGC -3'
(R):5'- GCCTTTACACGGAGATAAACTTAGTG -3'
Posted On 2014-08-01