Incidental Mutation 'IGL01299:Phyh'
ID75197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phyh
Ensembl Gene ENSMUSG00000026664
Gene Namephytanoyl-CoA hydroxylase
SynonymsLnap1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01299
Quality Score
Status
Chromosome2
Chromosomal Location4919019-4938730 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4930793 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 193 (W193R)
Ref Sequence ENSEMBL: ENSMUSP00000027975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027975]
Predicted Effect probably null
Transcript: ENSMUST00000027975
AA Change: W193R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027975
Gene: ENSMUSG00000026664
AA Change: W193R

DomainStartEndE-ValueType
Pfam:PhyH 61 277 1.4e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146933
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,298,743 T2830I probably benign Het
Akap1 C T 11: 88,844,254 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cdk12 C T 11: 98,210,446 R377C unknown Het
Cox6b1 G A 7: 30,617,128 T81I possibly damaging Het
Creb1 T C 1: 64,570,125 probably benign Het
Cyp4f40 G T 17: 32,667,974 A140S probably benign Het
Dus4l A G 12: 31,640,824 M276T probably benign Het
Dync1h1 G T 12: 110,614,107 R134L probably benign Het
Fmo2 A T 1: 162,878,030 N413K probably benign Het
Gabrp T C 11: 33,554,476 T280A probably damaging Het
Golph3l A G 3: 95,617,277 T217A possibly damaging Het
Mtr T C 13: 12,225,650 probably benign Het
Nbea T G 3: 55,690,894 D2398A probably damaging Het
Olfr399 T A 11: 74,054,475 I95F probably benign Het
Rab36 A G 10: 75,048,466 Q82R probably damaging Het
Ranbp2 T C 10: 58,492,817 V2846A probably damaging Het
Rprd2 G A 3: 95,776,547 S374L probably damaging Het
Slc9a3 A G 13: 74,160,263 R462G probably benign Het
Slitrk3 T C 3: 73,049,016 N808D probably benign Het
Tbck A T 3: 132,724,877 I345F probably damaging Het
Tor2a T A 2: 32,759,546 V146D probably damaging Het
Trpc6 C A 9: 8,653,061 Q623K probably damaging Het
Ube2q1 A G 3: 89,781,374 S192G probably damaging Het
Vnn1 T A 10: 23,895,051 L59Q probably damaging Het
Other mutations in Phyh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0552:Phyh UTSW 2 4936101 missense probably damaging 1.00
R1624:Phyh UTSW 2 4925683 missense probably benign 0.11
R1656:Phyh UTSW 2 4938353 missense probably damaging 0.97
R1721:Phyh UTSW 2 4937809 missense probably null 0.24
R3161:Phyh UTSW 2 4937671 splice site probably benign
R5353:Phyh UTSW 2 4942201 unclassified probably benign
R5907:Phyh UTSW 2 4930651 splice site probably null
R6093:Phyh UTSW 2 4919085 missense possibly damaging 0.51
R6188:Phyh UTSW 2 4927490 missense probably damaging 0.96
R6394:Phyh UTSW 2 4936003 missense probably benign 0.02
R7316:Phyh UTSW 2 4936044 nonsense probably null
R8510:Phyh UTSW 2 4927433 missense probably benign
X0060:Phyh UTSW 2 4938350 missense probably benign 0.00
Posted On2013-10-07