Hpd - SNV Details



 Human Rare Diseases 
Hawkinsinuria
Tyrosinemia type 3

 Gene Information 
Gene Name Hpd
Old Gene Names for Hpd Hppd , Laf , Fla , Flp
Gene Description 4-hydroxyphenylpyruvic acid dioxygenase [Source:MGI Symbol;Acc:MGI:96213]
MGI phenotype CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; tyrosine catabolic process; Golgi membrane; L-phenylalanine catabolic process; metal ion binding; endoplasmic reticulum membrane; endoplasmic reticulum; oxidoreductase activity
acting on single donors with incorporation of molecular oxygen; 4-hydroxyphenylpyruvate dioxygenase activity; aromatic amino acid family metabolic process; Golgi apparatus
Homolog in other species HPD
Omim http://omim.org/entry/609695
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029445
Chromosome 5
Coordinate 123,182,578     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.52
T:V0.48
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02483
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved