|Institutional Source||Beutler Lab|
|Gene Name||ceramide synthase 1|
|Synonyms||CerS1, to, Uog-1, Lass1|
|Is this an essential gene?||Possibly non essential (E-score: 0.367)|
|Stock #||R7152 (G1)|
|Chromosomal Location||70315775-70331592 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70318251 bp|
|Amino Acid Change||Tryptophan to Arginine at position 104 (W104R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120598 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000140239] [ENSMUST00000165819]|
|Predicted Effect||probably damaging
AA Change: W104R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W104R
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cers1||
(F):5'- ATGGGCTAACACATGGGCTC -3'
(R):5'- TGTGCAGATCAGAAAACAACTTCTC -3'
(F):5'- AACACATGGGCTCTGGTTAC -3'
(R):5'- ACAACTTCTCAAGAGTCATTTCTCAC -3'