|Institutional Source||Beutler Lab|
|Gene Name||ceramide synthase 3|
|Synonyms||related to TRH3, Lass3, T3L, CerS3, 4930550L11Rik, LOC233330|
|Is this an essential gene?||Probably non essential (E-score: 0.199)|
|Stock #||R0571 (G1)|
|Chromosomal Location||66743504-66823691 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 66786057 bp|
|Amino Acid Change||Methionine to Valine at position 255 (M255V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069238 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066475] [ENSMUST00000208521]|
|Predicted Effect||possibly damaging
AA Change: M255V
PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: M255V
|Predicted Effect||probably benign
AA Change: M219V
PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|Meta Mutation Damage Score||0.0706|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cers3||
(F):5'- AGTTGTCACTAGAGGGTCCACTGC -3'
(R):5'- CAGGACAGAGTGCCCTTCCAAATC -3'
(F):5'- cacacacacacacacacacac -3'
(R):5'- TTCCAAATCACTCACAGATAATTCTC -3'