|Institutional Source||Beutler Lab|
|Gene Name||stearoyl-Coenzyme A desaturase 1|
|Synonyms||Scd-1, stearoyl-CoA desaturase, SCD|
|Is this an essential gene?||Probably essential (E-score: 0.952)|
|Stock #||R5038 (G1)|
|Chromosomal Location||44394451-44407709 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 44401709 bp|
|Amino Acid Change||Valine to Methionine at position 207 (V207M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041331]|
|Predicted Effect||probably damaging
AA Change: V207M
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: V207M
|Meta Mutation Damage Score||0.5282|
|Coding Region Coverage||
|Validation Efficiency||94% (64/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scd1||
(F):5'- TTTAGCAGGATGGCTCAGGC -3'
(R):5'- TGCTTCCAGAATGACGTGTACG -3'
(F):5'- CTCAGGCAGAAACATTATGCCTTGG -3'
(R):5'- CTTCCAGAATGACGTGTACGAATGG -3'