|Institutional Source||Beutler Lab|
|Gene Name||4-hydroxy-2-oxoglutarate aldolase 1|
|Synonyms||0610010D20Rik, Dhdpsl, Npl2|
|Is this an essential gene?||Possibly non essential (E-score: 0.272)|
|Stock #||R2103 (G1)|
|Chromosomal Location||42045610-42070953 bp(+) (GRCm38)|
|Type of Mutation||splice site (4 bp from exon)|
|DNA Base Change (assembly)||A to C at 42060020 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000080414 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000172244]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6212|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 126.96.36.199), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal urinary excretion of oxalate but show increased urine 2,4-dihydroxyglutarate (DHG) levels especially when challenged by the inclusion of hydroxyproline in the diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoga1||
(F):5'- AAGTAACCCTGGGCACTGTG -3'
(R):5'- CTGACAGTCATCTCTACTGTGGC -3'
(F):5'- CAGCATCCTGATGTTCTTGAAACGG -3'
(R):5'- AGTCATCTCTACTGTGGCTTGCG -3'