Incidental Mutation 'R9048:Phyh'
ID 688163
Institutional Source Beutler Lab
Gene Symbol Phyh
Ensembl Gene ENSMUSG00000026664
Gene Name phytanoyl-CoA hydroxylase
Synonyms Lnap1
MMRRC Submission 068874-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9048 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4923830-4943541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4932249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 112 (M112L)
Ref Sequence ENSEMBL: ENSMUSP00000027975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027975]
AlphaFold O35386
Predicted Effect probably benign
Transcript: ENSMUST00000027975
AA Change: M112L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027975
Gene: ENSMUSG00000026664
AA Change: M112L

DomainStartEndE-ValueType
Pfam:PhyH 61 277 1.4e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl A T 16: 45,974,558 (GRCm39) V273D probably damaging Het
Als2 C T 1: 59,225,670 (GRCm39) V947M possibly damaging Het
Bltp1 T C 3: 37,065,926 (GRCm39) S67P Het
Bmp6 C T 13: 38,682,778 (GRCm39) T453I probably damaging Het
Ccdc141 T C 2: 76,853,872 (GRCm39) K1092R probably damaging Het
Ces1f T C 8: 93,989,695 (GRCm39) D407G probably benign Het
Cfap46 G T 7: 139,207,259 (GRCm39) H1887N unknown Het
Cldn10 G A 14: 119,025,656 (GRCm39) V30M probably damaging Het
Col4a1 T A 8: 11,281,944 (GRCm39) probably benign Het
Cyria G A 12: 12,412,286 (GRCm39) A183T probably damaging Het
Dmac2l C T 12: 69,787,752 (GRCm39) R63C probably damaging Het
Enpp7 A G 11: 118,881,455 (GRCm39) H200R probably damaging Het
Entrep3 T C 3: 89,093,048 (GRCm39) Y269H probably damaging Het
Epb41l3 C T 17: 69,517,218 (GRCm39) A82V probably benign Het
Exph5 A G 9: 53,284,935 (GRCm39) H672R possibly damaging Het
Glce A T 9: 61,967,413 (GRCm39) Y579* probably null Het
Gm9507 G A 10: 77,647,245 (GRCm39) P145S unknown Het
Igf2 A T 7: 142,207,759 (GRCm39) F113I probably benign Het
Il1a T C 2: 129,148,441 (GRCm39) S90G probably benign Het
Kalrn A G 16: 33,854,854 (GRCm39) I2002T possibly damaging Het
Kng2 G A 16: 22,806,522 (GRCm39) T559I probably benign Het
Leng8 A G 7: 4,146,931 (GRCm39) probably benign Het
Lpcat2 G T 8: 93,635,878 (GRCm39) A427S probably benign Het
Mapk14 A G 17: 28,947,358 (GRCm39) T175A probably benign Het
Mei1 C A 15: 81,969,036 (GRCm39) S329* probably null Het
Mfsd2a A G 4: 122,854,768 (GRCm39) I20T probably benign Het
Mtcl1 T C 17: 66,678,331 (GRCm39) N665S probably benign Het
Mup5 T A 4: 61,750,612 (GRCm39) Q177L probably benign Het
Nkx6-2 A G 7: 139,161,876 (GRCm39) F167S probably damaging Het
Or10j5 T C 1: 172,784,929 (GRCm39) V189A probably benign Het
Or13c7b T C 4: 43,820,584 (GRCm39) Y259C probably damaging Het
Or2t26 G A 11: 49,039,830 (GRCm39) V249I probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or55b3 A T 7: 102,126,684 (GRCm39) I131N probably damaging Het
Or5h18 G A 16: 58,847,598 (GRCm39) T224I probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pip5k1c C A 10: 81,152,710 (GRCm39) probably benign Het
Pkn1 G A 8: 84,424,663 (GRCm39) R11C possibly damaging Het
Podn G C 4: 107,878,596 (GRCm39) R424G probably damaging Het
Ptdss2 A G 7: 140,732,797 (GRCm39) D222G probably damaging Het
Ryk A T 9: 102,774,468 (GRCm39) M401L probably benign Het
Sec61g A G 11: 16,458,129 (GRCm39) V22A probably benign Het
Septin8 A G 11: 53,427,530 (GRCm39) N250D probably damaging Het
Siglecg T C 7: 43,058,003 (GRCm39) L7P probably benign Het
Sin3a A G 9: 57,032,620 (GRCm39) D1188G probably damaging Het
Sipa1l2 G A 8: 126,174,465 (GRCm39) T1271M possibly damaging Het
Stard9 T A 2: 120,508,415 (GRCm39) L241H probably damaging Het
Stx8 A G 11: 67,902,211 (GRCm39) T132A probably damaging Het
Stxbp2 A G 8: 3,687,218 (GRCm39) I403V Het
Stxbp3 A T 3: 108,723,704 (GRCm39) M177K probably benign Het
Supt16 T A 14: 52,418,513 (GRCm39) Q248L probably damaging Het
Vmn2r91 A T 17: 18,356,122 (GRCm39) L596F probably benign Het
Zkscan3 T C 13: 21,580,686 (GRCm39) M1V probably null Het
Other mutations in Phyh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Phyh APN 2 4,935,604 (GRCm39) missense probably null 1.00
R0552:Phyh UTSW 2 4,940,912 (GRCm39) missense probably damaging 1.00
R1624:Phyh UTSW 2 4,930,494 (GRCm39) missense probably benign 0.11
R1656:Phyh UTSW 2 4,943,164 (GRCm39) missense probably damaging 0.97
R1721:Phyh UTSW 2 4,942,620 (GRCm39) missense probably null 0.24
R3161:Phyh UTSW 2 4,942,482 (GRCm39) splice site probably benign
R5353:Phyh UTSW 2 4,947,012 (GRCm39) unclassified probably benign
R5907:Phyh UTSW 2 4,935,462 (GRCm39) splice site probably null
R6093:Phyh UTSW 2 4,923,896 (GRCm39) missense possibly damaging 0.51
R6188:Phyh UTSW 2 4,932,301 (GRCm39) missense probably damaging 0.96
R6394:Phyh UTSW 2 4,940,814 (GRCm39) missense probably benign 0.02
R7316:Phyh UTSW 2 4,940,855 (GRCm39) nonsense probably null
R8510:Phyh UTSW 2 4,932,244 (GRCm39) missense probably benign
R8798:Phyh UTSW 2 4,923,893 (GRCm39) missense probably damaging 1.00
R9200:Phyh UTSW 2 4,932,247 (GRCm39) missense probably benign 0.00
R9482:Phyh UTSW 2 4,923,863 (GRCm39) start gained probably benign
X0060:Phyh UTSW 2 4,943,161 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACTTCTGGCCACGTTTTC -3'
(R):5'- ACCTGCCATGAAGCTGATG -3'

Sequencing Primer
(F):5'- TACTCTACTAGATCAGAGAAGCAGTC -3'
(R):5'- CTGCCATGAAGCTGATGGGAAAG -3'
Posted On 2021-11-19