Incidental Mutation 'R9420:Hoga1'
ID 712312
Institutional Source Beutler Lab
Gene Symbol Hoga1
Ensembl Gene ENSMUSG00000025176
Gene Name 4-hydroxy-2-oxoglutarate aldolase 1
Synonyms 0610010D20Rik, Npl2, Dhdpsl
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 42034049-42059392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42048333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 67 (V67A)
Ref Sequence ENSEMBL: ENSMUSP00000080414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000172244]
AlphaFold Q9DCU9
Predicted Effect
SMART Domains Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176
AA Change: V67A

DomainStartEndE-ValueType
DHDPS 28 319 8.34e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172244
SMART Domains Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
Pfam:DHDPS 57 156 5.8e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype 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 4.1.3.16), 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
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,912,277 (GRCm39) I56T probably benign Het
Adissp T C 2: 130,993,682 (GRCm39) probably null Het
Akr1c12 A G 13: 4,325,796 (GRCm39) L99S probably damaging Het
Azin1 C A 15: 38,493,871 (GRCm39) V251F possibly damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
C2cd3 A T 7: 100,065,262 (GRCm39) M305L Het
Casz1 A G 4: 149,023,320 (GRCm39) T742A probably damaging Het
Cbfa2t2 A G 2: 154,352,426 (GRCm39) probably null Het
Clec2e T A 6: 129,071,420 (GRCm39) Y139F possibly damaging Het
Crisp2 T A 17: 41,094,724 (GRCm39) N117I possibly damaging Het
Ddx52 A T 11: 83,833,008 (GRCm39) D2V probably damaging Het
Dmpk T A 7: 18,824,946 (GRCm39) V442E probably benign Het
Dnah2 A T 11: 69,368,942 (GRCm39) M1654K probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Erlec1 A G 11: 30,885,054 (GRCm39) V411A probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Fry A G 5: 150,356,994 (GRCm39) E1847G possibly damaging Het
Gck A G 11: 5,899,553 (GRCm39) probably null Het
Gga2 T C 7: 121,603,195 (GRCm39) D167G probably damaging Het
Gprc6a A G 10: 51,491,506 (GRCm39) S748P probably damaging Het
H2-M10.2 T C 17: 36,595,643 (GRCm39) R216G probably benign Het
H2-M2 T A 17: 37,792,215 (GRCm39) I312F probably benign Het
Havcr2 A T 11: 46,347,350 (GRCm39) Y109F probably damaging Het
Ift70b T A 2: 75,768,391 (GRCm39) I121F possibly damaging Het
Kcnk12 C A 17: 88,104,507 (GRCm39) V126L possibly damaging Het
Klc1 A G 12: 111,738,950 (GRCm39) E66G probably damaging Het
Klhl2 A T 8: 65,205,870 (GRCm39) Y350* probably null Het
Letm1 T C 5: 33,926,802 (GRCm39) H165R probably damaging Het
Luc7l2 T C 6: 38,547,489 (GRCm39) C36R probably damaging Het
Mab21l1 A G 3: 55,690,674 (GRCm39) N87S probably damaging Het
Mdn1 A G 4: 32,678,414 (GRCm39) T681A probably damaging Het
Mrc1 C T 2: 14,312,790 (GRCm39) T904I possibly damaging Het
Mrpl38 A G 11: 116,023,276 (GRCm39) S326P probably damaging Het
Mtr T G 13: 12,268,764 (GRCm39) K32N probably benign Het
Mybpc3 T A 2: 90,965,478 (GRCm39) C1128* probably null Het
Ncdn T C 4: 126,645,762 (GRCm39) D49G probably damaging Het
Nfkbiz G A 16: 55,642,337 (GRCm39) T27I probably damaging Het
Npnt A T 3: 132,653,866 (GRCm39) Y38* probably null Het
Nrxn2 A G 19: 6,581,931 (GRCm39) E1622G probably benign Het
Nutm2 T C 13: 50,626,964 (GRCm39) I373T probably damaging Het
Or4c58 T C 2: 89,674,715 (GRCm39) I201V probably benign Het
Or51m1 T C 7: 103,578,980 (GRCm39) S317P possibly damaging Het
Osbp2 A G 11: 3,662,170 (GRCm39) S228P probably damaging Het
Pbx3 C T 2: 34,103,348 (GRCm39) R208Q probably damaging Het
Pcdhgb5 T C 18: 37,864,838 (GRCm39) V211A probably benign Het
Pi16 C T 17: 29,544,899 (GRCm39) T151M probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptpro T C 6: 137,420,933 (GRCm39) I1068T probably benign Het
Rbl1 A T 2: 157,035,154 (GRCm39) Y309N probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Serpina3g G C 12: 104,206,518 (GRCm39) E106D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Son G C 16: 91,454,508 (GRCm39) R1085P probably damaging Het
Tasor A T 14: 27,163,927 (GRCm39) I238F probably damaging Het
Tbx18 C A 9: 87,612,675 (GRCm39) A75S probably benign Het
Tmem232 C A 17: 65,792,881 (GRCm39) Q105H probably damaging Het
Ttc29 A G 8: 79,060,390 (GRCm39) I437V probably benign Het
Ttn T A 2: 76,621,887 (GRCm39) I15552L probably damaging Het
Ttn T A 2: 76,750,313 (GRCm39) T3579S probably benign Het
Vps11 A G 9: 44,267,719 (GRCm39) F298L probably benign Het
Wbp11 T C 6: 136,791,259 (GRCm39) T625A unknown Het
Xylb T A 9: 119,215,428 (GRCm39) N460K probably damaging Het
Znrf4 C A 17: 56,819,218 (GRCm39) V30F probably damaging Het
Other mutations in Hoga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Eroica UTSW 19 42,048,685 (GRCm39) nonsense probably null
R0555:Hoga1 UTSW 19 42,034,514 (GRCm39) missense possibly damaging 0.59
R1225:Hoga1 UTSW 19 42,058,628 (GRCm39) missense probably damaging 1.00
R1991:Hoga1 UTSW 19 42,048,459 (GRCm39) splice site probably null
R2103:Hoga1 UTSW 19 42,048,459 (GRCm39) splice site probably null
R2184:Hoga1 UTSW 19 42,049,830 (GRCm39) missense probably damaging 1.00
R5643:Hoga1 UTSW 19 42,048,402 (GRCm39) missense probably benign 0.00
R7060:Hoga1 UTSW 19 42,048,685 (GRCm39) nonsense probably null
R8756:Hoga1 UTSW 19 42,048,716 (GRCm39) missense probably benign 0.00
R8772:Hoga1 UTSW 19 42,034,384 (GRCm39) missense probably benign
R9101:Hoga1 UTSW 19 42,048,347 (GRCm39) missense possibly damaging 0.88
R9254:Hoga1 UTSW 19 42,051,697 (GRCm39) missense probably damaging 1.00
R9379:Hoga1 UTSW 19 42,051,697 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACGGGTTCAGGGTAAGTTATG -3'
(R):5'- AAGCAAAGCAGGCCTCAGTG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- AAGGAGCCTGGATTCTGCC -3'
Posted On 2022-05-16