|Institutional Source||Beutler Lab|
|Gene Name||fatty acid desaturase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7845 (G1)|
|Chromosomal Location||10182888-10196870 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 10194041 bp|
|Amino Acid Change||Histidine to Glutamine at position 345 (H345Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010807 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010807]|
|Predicted Effect||probably damaging
AA Change: H345Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H345Q
|Coding Region Coverage||
|Validation Efficiency||96% (43/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arachidonic acid deficiency with premature lethality and altered prostaglandin levels. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fads1||
(F):5'- GTACAGGTGACAGATGGGTC -3'
(R):5'- TCTCCATGTCAGAGTGCTGG -3'
(F):5'- CAGATGGGTCTGCGGGC -3'
(R):5'- TCAGAGTGCTGGGTCTTCC -3'