Incidental Mutation 'IGL01684:Ogdh'
ID 103900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ogdh
Ensembl Gene ENSMUSG00000020456
Gene Name oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Synonyms alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01684
Quality Score
Status
Chromosome 11
Chromosomal Location 6241633-6306642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6292546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 420 (V420L)
Ref Sequence ENSEMBL: ENSMUSP00000099090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]
AlphaFold Q60597
Predicted Effect probably damaging
Transcript: ENSMUST00000003461
AA Change: V420L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: V420L

DomainStartEndE-ValueType
Blast:Transket_pyr 131 199 8e-13 BLAST
Pfam:E1_dh 256 582 1.4e-95 PFAM
Transket_pyr 651 865 3.44e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000081894
AA Change: V416L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: V416L

DomainStartEndE-ValueType
Pfam:E1_dh 252 578 1e-96 PFAM
Transket_pyr 647 861 3.44e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000093350
AA Change: V431L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: V431L

DomainStartEndE-ValueType
Pfam:2-oxogl_dehyd_N 47 87 6.6e-21 PFAM
Pfam:E1_dh 267 593 1.1e-101 PFAM
Transket_pyr 662 876 3.44e-50 SMART
Pfam:OxoGdeHyase_C 880 1025 8.7e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101554
AA Change: V420L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: V420L

DomainStartEndE-ValueType
Blast:Transket_pyr 131 199 8e-13 BLAST
Pfam:E1_dh 256 582 1.4e-95 PFAM
Transket_pyr 651 865 3.44e-50 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,904,821 (GRCm39) V21F probably damaging Het
Aox1 G A 1: 58,116,740 (GRCm39) probably null Het
BC024139 A G 15: 76,008,885 (GRCm39) L283P probably damaging Het
Cacna1h C T 17: 25,607,690 (GRCm39) G876S probably damaging Het
Ccdc66 T C 14: 27,222,206 (GRCm39) E179G possibly damaging Het
Ckap5 T G 2: 91,385,699 (GRCm39) D182E probably benign Het
Clk1 A G 1: 58,456,424 (GRCm39) probably null Het
Dhx34 G A 7: 15,937,204 (GRCm39) T831M probably damaging Het
Enox1 T C 14: 77,816,533 (GRCm39) I171T possibly damaging Het
Fscn2 G A 11: 120,258,131 (GRCm39) R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 (GRCm39) S460L probably benign Het
Gramd1a A G 7: 30,838,330 (GRCm39) S308P possibly damaging Het
Guca1a T C 17: 47,706,068 (GRCm39) D137G probably null Het
Heatr5a G A 12: 52,002,294 (GRCm39) T214I probably benign Het
Klf7 T C 1: 64,160,051 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,723 (GRCm39) S1854P probably damaging Het
Mau2 A T 8: 70,481,895 (GRCm39) probably benign Het
Mdn1 A G 4: 32,726,857 (GRCm39) I2639V probably benign Het
Mylk A G 16: 34,792,310 (GRCm39) M1544V possibly damaging Het
Or13a21 T C 7: 139,998,828 (GRCm39) N286S probably damaging Het
Or5b105 A G 19: 13,080,353 (GRCm39) F105S possibly damaging Het
Pcm1 A G 8: 41,710,960 (GRCm39) T77A probably benign Het
Piezo2 T A 18: 63,216,241 (GRCm39) I947F probably damaging Het
Prrc2c A T 1: 162,534,031 (GRCm39) probably benign Het
Ptch2 A G 4: 116,961,984 (GRCm39) E107G probably damaging Het
Rmdn3 T C 2: 118,978,055 (GRCm39) E182G probably damaging Het
Rpl23a-ps3 C T 14: 33,892,745 (GRCm39) noncoding transcript Het
Sorl1 T C 9: 41,892,007 (GRCm39) D1881G probably damaging Het
Tbc1d19 A G 5: 54,014,221 (GRCm39) N283S probably benign Het
Tcf20 A G 15: 82,741,361 (GRCm39) F30S probably damaging Het
Tiparp A T 3: 65,460,754 (GRCm39) K581I probably damaging Het
Tle3 T C 9: 61,310,728 (GRCm39) probably benign Het
Ubr3 C A 2: 69,846,502 (GRCm39) Y1608* probably null Het
Vmn1r59 T C 7: 5,457,299 (GRCm39) T154A probably benign Het
Vta1 A G 10: 14,559,875 (GRCm39) I115T probably damaging Het
Wwtr1 C A 3: 57,483,210 (GRCm39) R31L probably damaging Het
Zfp385b T C 2: 77,550,019 (GRCm39) D22G possibly damaging Het
Zfp516 A G 18: 82,975,326 (GRCm39) E508G probably damaging Het
Zfp735 T A 11: 73,581,191 (GRCm39) V76E possibly damaging Het
Other mutations in Ogdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ogdh APN 11 6,298,790 (GRCm39) missense probably damaging 1.00
IGL01503:Ogdh APN 11 6,305,069 (GRCm39) missense probably damaging 1.00
IGL02141:Ogdh APN 11 6,305,015 (GRCm39) missense probably damaging 1.00
IGL02313:Ogdh APN 11 6,305,400 (GRCm39) missense probably damaging 0.98
IGL02818:Ogdh APN 11 6,298,270 (GRCm39) missense probably benign
N/A - 535:Ogdh UTSW 11 6,274,911 (GRCm39) missense possibly damaging 0.60
PIT4498001:Ogdh UTSW 11 6,290,504 (GRCm39) missense probably benign 0.09
R0328:Ogdh UTSW 11 6,297,216 (GRCm39) missense probably benign 0.01
R0505:Ogdh UTSW 11 6,289,936 (GRCm39) splice site probably benign
R0627:Ogdh UTSW 11 6,297,216 (GRCm39) missense possibly damaging 0.78
R1119:Ogdh UTSW 11 6,290,544 (GRCm39) missense probably damaging 1.00
R1480:Ogdh UTSW 11 6,297,827 (GRCm39) critical splice acceptor site probably null
R1591:Ogdh UTSW 11 6,299,384 (GRCm39) missense probably damaging 1.00
R1804:Ogdh UTSW 11 6,288,565 (GRCm39) missense probably damaging 1.00
R1873:Ogdh UTSW 11 6,290,438 (GRCm39) splice site probably benign
R1959:Ogdh UTSW 11 6,296,638 (GRCm39) missense possibly damaging 0.49
R2004:Ogdh UTSW 11 6,284,626 (GRCm39) missense possibly damaging 0.90
R2080:Ogdh UTSW 11 6,299,393 (GRCm39) missense probably benign 0.00
R2384:Ogdh UTSW 11 6,292,526 (GRCm39) missense probably damaging 1.00
R2656:Ogdh UTSW 11 6,298,678 (GRCm39) missense probably benign
R2883:Ogdh UTSW 11 6,284,545 (GRCm39) missense probably damaging 1.00
R3405:Ogdh UTSW 11 6,299,462 (GRCm39) missense probably damaging 1.00
R3838:Ogdh UTSW 11 6,288,627 (GRCm39) nonsense probably null
R3933:Ogdh UTSW 11 6,292,601 (GRCm39) missense possibly damaging 0.72
R3939:Ogdh UTSW 11 6,300,655 (GRCm39) nonsense probably null
R4296:Ogdh UTSW 11 6,299,374 (GRCm39) missense probably damaging 0.97
R4393:Ogdh UTSW 11 6,266,772 (GRCm39) missense probably damaging 1.00
R4427:Ogdh UTSW 11 6,305,421 (GRCm39) missense probably benign 0.01
R4667:Ogdh UTSW 11 6,290,600 (GRCm39) missense probably benign 0.20
R4669:Ogdh UTSW 11 6,290,600 (GRCm39) missense probably benign 0.20
R4728:Ogdh UTSW 11 6,292,549 (GRCm39) missense probably damaging 1.00
R4737:Ogdh UTSW 11 6,247,044 (GRCm39) missense probably benign
R4785:Ogdh UTSW 11 6,299,875 (GRCm39) missense probably damaging 1.00
R4796:Ogdh UTSW 11 6,290,570 (GRCm39) missense probably benign 0.01
R5333:Ogdh UTSW 11 6,302,126 (GRCm39) missense probably damaging 1.00
R5592:Ogdh UTSW 11 6,266,763 (GRCm39) splice site probably null
R6318:Ogdh UTSW 11 6,299,390 (GRCm39) missense probably damaging 0.99
R6875:Ogdh UTSW 11 6,290,477 (GRCm39) missense probably benign 0.12
R6988:Ogdh UTSW 11 6,263,806 (GRCm39) nonsense probably null
R7406:Ogdh UTSW 11 6,298,351 (GRCm39) missense probably benign 0.00
R7724:Ogdh UTSW 11 6,274,887 (GRCm39) missense probably benign
R7763:Ogdh UTSW 11 6,288,558 (GRCm39) missense probably benign
R7909:Ogdh UTSW 11 6,263,965 (GRCm39) missense possibly damaging 0.55
R8207:Ogdh UTSW 11 6,299,329 (GRCm39) missense probably benign 0.38
R8348:Ogdh UTSW 11 6,292,619 (GRCm39) missense probably damaging 0.98
R8401:Ogdh UTSW 11 6,247,174 (GRCm39) nonsense probably null
R8448:Ogdh UTSW 11 6,292,619 (GRCm39) missense probably damaging 0.98
R8770:Ogdh UTSW 11 6,305,336 (GRCm39) missense probably damaging 1.00
R8796:Ogdh UTSW 11 6,297,129 (GRCm39) missense possibly damaging 0.75
R9132:Ogdh UTSW 11 6,290,488 (GRCm39) missense probably benign 0.01
R9328:Ogdh UTSW 11 6,297,838 (GRCm39) missense probably benign 0.30
R9479:Ogdh UTSW 11 6,297,854 (GRCm39) missense possibly damaging 0.89
R9696:Ogdh UTSW 11 6,289,209 (GRCm39) missense probably damaging 1.00
Z1088:Ogdh UTSW 11 6,305,427 (GRCm39) missense probably benign
Z1177:Ogdh UTSW 11 6,266,982 (GRCm39) missense probably benign 0.07
Z1177:Ogdh UTSW 11 6,247,051 (GRCm39) missense probably benign
Posted On 2014-01-21