|Institutional Source||Beutler Lab|
|Gene Name||serine palmitoyltransferase, long chain base subunit 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5055 (G1)|
|Chromosomal Location||53332748-53377397 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53342182 bp|
|Amino Acid Change||Serine to Proline at position 376 (S376P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021920 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021920]|
|Predicted Effect||probably benign
AA Change: S376P
PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
AA Change: S376P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a knock-out allele exhibit abnormal sphingolipid levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sptlc1||
(F):5'- GGCCTTGACTTTAGGACATGGC -3'
(R):5'- GTGACATCATGAAGCCCAGG -3'
(F):5'- CTTGACTTTAGGACATGGCGAACAG -3'
(R):5'- AGGCCCTCAAGCTGTGCATAG -3'