|Institutional Source||Beutler Lab|
|Gene Name||golgi-specific brefeldin A-resistance factor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||PIT4651001 (G1)|
|Chromosomal Location||46152509-46286510 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46163543 bp|
|Amino Acid Change||Asparagine to Serine at position 5 (N5S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026254 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026254]|
|Predicted Effect||probably benign
AA Change: N5S
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: N5S
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gbf1||
(F):5'- ACTTGCAGGCTCAACATTTGT -3'
(R):5'- CTCCCTATGAGCCAAGCATTAGA -3'
(F):5'- GATCTCTGAGTTTGAGGCCAACC -3'
(R):5'- GCCAAGCATTAGAACATATGAGTC -3'