|Institutional Source||Beutler Lab|
|Gene Name||secretion associated Ras related GTPase 1B|
|Synonyms||Sara2, 2310075M17Rik, 2900019I22Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8013 (G1)|
|Chromosomal Location||51763687-51791925 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 51779794 bp|
|Amino Acid Change||Proline to Leucine at position 55 (P55L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020653]|
|Predicted Effect||possibly damaging
AA Change: P55L
PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: P55L
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sar1b||
(F):5'- CGCACATGCACTCAGGAATTC -3'
(R):5'- AGTTCTTAATTTGTGCTCTGGGAAC -3'
(F):5'- GTCTGATGTCACTCTGACTG -3'
(R):5'- GGAACCAGGTCAATTACTACTTACC -3'