Incidental Mutation 'R2103:Hoga1'
ID 230747
Institutional Source Beutler Lab
Gene Symbol Hoga1
Ensembl Gene ENSMUSG00000025176
Gene Name 4-hydroxy-2-oxoglutarate aldolase 1
Synonyms 0610010D20Rik, Npl2, Dhdpsl
MMRRC Submission 040107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2103 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 42034049-42059392 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to C at 42048459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000172244]
AlphaFold Q9DCU9
Predicted Effect probably null
Transcript: ENSMUST00000081714
SMART Domains Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
DHDPS 28 319 8.34e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167381
Predicted Effect probably benign
Transcript: ENSMUST00000172244
SMART Domains Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
Pfam:DHDPS 57 156 5.8e-11 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C A 3: 59,947,235 (GRCm39) P311Q probably damaging Het
Acoxl T A 2: 127,814,526 (GRCm39) M314K probably damaging Het
Agmat A T 4: 141,483,214 (GRCm39) D216V probably damaging Het
Aida A T 1: 183,094,627 (GRCm39) E107D probably benign Het
Ano5 A G 7: 51,187,561 (GRCm39) K50R possibly damaging Het
Anxa2 A T 9: 69,391,098 (GRCm39) D95V probably damaging Het
Aspm G A 1: 139,419,403 (GRCm39) V3023M probably damaging Het
Atg16l2 A G 7: 100,939,568 (GRCm39) probably null Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
B3galt5 A T 16: 96,117,225 (GRCm39) K286M probably damaging Het
Best3 A C 10: 116,838,499 (GRCm39) I186L probably benign Het
Blm G T 7: 80,155,697 (GRCm39) probably null Het
Cat A T 2: 103,293,660 (GRCm39) D389E probably damaging Het
Cert1 T A 13: 96,771,394 (GRCm39) N550K probably damaging Het
Cluh C A 11: 74,550,355 (GRCm39) C222* probably null Het
Cntnap2 G A 6: 47,275,522 (GRCm39) E1325K probably damaging Het
Col14a1 A T 15: 55,313,336 (GRCm39) D1320V unknown Het
Cpne7 A G 8: 123,854,176 (GRCm39) K288E possibly damaging Het
Cyp26b1 A G 6: 84,552,032 (GRCm39) S369P possibly damaging Het
Cyp2j9 T A 4: 96,460,201 (GRCm39) K434M probably damaging Het
Dpyd G C 3: 118,858,601 (GRCm39) S605T probably benign Het
Dst A G 1: 34,229,339 (GRCm39) T1986A probably benign Het
Ebf2 T A 14: 67,625,391 (GRCm39) V233D probably damaging Het
Ecm2 A G 13: 49,683,732 (GRCm39) D570G probably benign Het
Efhc1 T A 1: 21,059,784 (GRCm39) C611* probably null Het
Epop T C 11: 97,519,480 (GRCm39) T210A probably benign Het
Fdxacb1 A T 9: 50,682,946 (GRCm39) N101I probably benign Het
Fezf1 A G 6: 23,247,331 (GRCm39) F248S possibly damaging Het
Galnt16 A G 12: 80,630,430 (GRCm39) D262G probably damaging Het
Gm9507 T A 10: 77,647,500 (GRCm39) probably benign Het
Grin2b A T 6: 135,757,138 (GRCm39) I441N probably benign Het
H2-Eb2 A G 17: 34,553,278 (GRCm39) I155V probably benign Het
Hectd4 C A 5: 121,493,692 (GRCm39) D3811E probably benign Het
Herc4 T C 10: 63,081,889 (GRCm39) S71P probably benign Het
Hhipl1 A G 12: 108,293,977 (GRCm39) T628A probably benign Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Il10ra C A 9: 45,167,109 (GRCm39) A481S probably benign Het
Klk1b26 A T 7: 43,666,324 (GRCm39) T256S probably damaging Het
Kndc1 C T 7: 139,501,150 (GRCm39) T813I probably benign Het
Limch1 A G 5: 67,156,072 (GRCm39) K394R probably benign Het
Lrrc37a T C 11: 103,391,087 (GRCm39) E1446G probably benign Het
Lrrc47 C T 4: 154,100,350 (GRCm39) R287W probably damaging Het
Mdn1 T A 4: 32,738,712 (GRCm39) L3555Q possibly damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Mei1 G T 15: 81,991,237 (GRCm39) V472F probably damaging Het
Mrps34 T A 17: 25,114,464 (GRCm39) probably null Het
Myom3 A G 4: 135,503,723 (GRCm39) T391A probably benign Het
Nfib G A 4: 82,248,645 (GRCm39) T314I possibly damaging Het
Or5b99 T C 19: 12,976,866 (GRCm39) V172A possibly damaging Het
Or5p73 A G 7: 108,064,810 (GRCm39) N93S probably benign Het
Or6c5 T C 10: 129,074,368 (GRCm39) S117P probably damaging Het
Or9a2 A G 6: 41,748,939 (GRCm39) I98T probably benign Het
Pdia3 G C 2: 121,264,474 (GRCm39) G346A probably damaging Het
Plce1 T C 19: 38,766,368 (GRCm39) F2117S probably damaging Het
Plec A G 15: 76,057,743 (GRCm39) F4055L probably damaging Het
Ppip5k1 A T 2: 121,152,134 (GRCm39) probably null Het
Psma6 T C 12: 55,454,842 (GRCm39) I57T probably benign Het
Psme2 A T 14: 55,828,297 (GRCm39) probably null Het
Reln A T 5: 22,174,358 (GRCm39) D1948E possibly damaging Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sbno1 G T 5: 124,532,000 (GRCm39) S727R probably damaging Het
Serpina3m C A 12: 104,355,958 (GRCm39) Y208* probably null Het
Serpind1 T C 16: 17,160,808 (GRCm39) V446A probably benign Het
Shc3 T A 13: 51,596,872 (GRCm39) M384L probably benign Het
Slc38a11 A G 2: 65,160,683 (GRCm39) F304L probably benign Het
Slc4a5 A C 6: 83,201,663 (GRCm39) D4A probably benign Het
Slc4a5 G A 6: 83,274,360 (GRCm39) A1076T probably benign Het
Slpi C T 2: 164,197,463 (GRCm39) C28Y probably damaging Het
Sptan1 T C 2: 29,920,483 (GRCm39) S2320P probably damaging Het
Stim2 A G 5: 54,262,591 (GRCm39) T278A possibly damaging Het
Sympk T A 7: 18,788,041 (GRCm39) S1186T probably benign Het
Tbrg1 T C 9: 37,560,715 (GRCm39) D387G probably benign Het
Tns2 A T 15: 102,021,100 (GRCm39) probably null Het
Tnxb A G 17: 34,901,225 (GRCm39) Y1013C probably damaging Het
Tpsg1 T C 17: 25,592,267 (GRCm39) S41P possibly damaging Het
Trim36 T C 18: 46,329,149 (GRCm39) N85S probably benign Het
Trpm6 A T 19: 18,773,648 (GRCm39) H380L probably benign Het
Tssk4 A G 14: 55,888,997 (GRCm39) I174M probably damaging Het
Ttn C T 2: 76,776,735 (GRCm39) probably null Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r4 T A 3: 64,322,704 (GRCm39) N5I possibly damaging Het
Vps11 G A 9: 44,270,524 (GRCm39) H183Y probably damaging Het
Vsig10l A G 7: 43,116,892 (GRCm39) T476A possibly damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Vwf G A 6: 125,623,293 (GRCm39) V1797I probably benign Het
Wasl A T 6: 24,618,377 (GRCm39) S447T unknown Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Zfp874a T A 13: 67,590,623 (GRCm39) I354F probably benign 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
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
R9420:Hoga1 UTSW 19 42,048,333 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAGTAACCCTGGGCACTGTG -3'
(R):5'- CTGACAGTCATCTCTACTGTGGC -3'

Sequencing Primer
(F):5'- CAGCATCCTGATGTTCTTGAAACGG -3'
(R):5'- AGTCATCTCTACTGTGGCTTGCG -3'
Posted On 2014-09-18