|Institutional Source||Beutler Lab|
|Gene Name||phytanoyl-CoA hydroxylase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6093 (G1)|
|Chromosomal Location||4919019-4938730 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 4919085 bp|
|Amino Acid Change||Alanine to Serine at position 6 (A6S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027975 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027975]|
|Predicted Effect||possibly damaging
AA Change: A6S
PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: A6S
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed a high phytol diet, mice homozygous for a null allele exhibit hepatic lipidosis and steatosis, ataxia, peripheral neuropathy and loss of spermatogonia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phyh||
(F):5'- AAGGACTCCAGACAGCCTAG -3'
(R):5'- TAGAGAAGTCCCACCAGAGAGC -3'
(F):5'- AGGCTCGCTCCCTCATC -3'
(R):5'- TTCCAGAAGACGAGGGCTCTC -3'