|Institutional Source||Beutler Lab|
|Gene Name||delta(4)-desaturase, sphingolipid 1|
|Is this an essential gene?||Probably non essential (E-score: 0.175)|
|Stock #||R7633 (G1)|
|Chromosomal Location||182275772-182282804 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 182279698 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 35 (S35P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048519 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]|
AA Change: S35P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S35P
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Degs1||
(F):5'- ACATTCCAAACCAGCGGTTC -3'
(R):5'- AATATCTCATAAAGTCTGTCAGGGG -3'
(F):5'- AAACCAGCGGTTCCACAGGG -3'
(R):5'- TCTGTCAGGGGGAGAATTATAAC -3'