|Institutional Source||Beutler Lab|
|Gene Name||golgi autoantigen, golgin subfamily a, 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3913 (G1)|
|Chromosomal Location||118506267-118582519 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 118538971 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 414 (M414K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081880 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097] [ENSMUST00000212461]|
AA Change: M414K
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: M414K
AA Change: M386K
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: M89K
AA Change: M423K
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|Meta Mutation Damage Score||0.0871|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
|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 protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Golga4||
(F):5'- AAGAGAGTCTTGCACTGTCC -3'
(R):5'- GAGGCTTTCTCCAAACAGCAC -3'
(F):5'- AGTCTTGCACTGTCCTTAGTAAGAG -3'
(R):5'- ACAGCACTTTCTCATCAGGAGTC -3'