|Institutional Source||Beutler Lab|
|Gene Name||alkylglycerone phosphate synthase|
|Synonyms||bs2, ADAPS, 9930035G10Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1116 (G1)|
|Chromosomal Location||75832177-75931350 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to G at 75861925 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000135457 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047232] [ENSMUST00000111952] [ENSMUST00000175646]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit male infertility, azoospermia, microphthalmia, and cataracts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Agps||
(F):5'- TGTACTGCTCTTGTTCAATGTCACAGC -3'
(R):5'- ATGCTACCCTGAAAGCTCCTGCAC -3'
(F):5'- CTTGTTCAATGTCACAGCATAGAG -3'
(R):5'- gtctatttctccaactttctatccc -3'