Incidental Mutation 'R1541:Ogdhl'
ID 171759
Institutional Source Beutler Lab
Gene Symbol Ogdhl
Ensembl Gene ENSMUSG00000021913
Gene Name oxoglutarate dehydrogenase-like
Synonyms
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 32043976-32070108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32062624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 570 (R570H)
Ref Sequence ENSEMBL: ENSMUSP00000022480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022480] [ENSMUST00000228529]
AlphaFold E9Q7L0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022480
AA Change: R570H

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: R570H

DomainStartEndE-ValueType
Pfam:2-oxogl_dehyd_N 44 81 2.7e-18 PFAM
Blast:Transket_pyr 118 154 8e-14 BLAST
Pfam:E1_dh 262 588 1.8e-88 PFAM
Transket_pyr 657 870 2.64e-51 SMART
Pfam:OxoGdeHyase_C 874 1019 8.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228529
AA Change: R551H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging Het
Other mutations in Ogdhl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ogdhl APN 14 32,055,669 (GRCm39) missense probably damaging 1.00
IGL00425:Ogdhl APN 14 32,068,447 (GRCm39) missense probably damaging 1.00
IGL01509:Ogdhl APN 14 32,059,716 (GRCm39) missense probably damaging 1.00
IGL01704:Ogdhl APN 14 32,059,588 (GRCm39) splice site probably benign
IGL01760:Ogdhl APN 14 32,061,894 (GRCm39) missense probably damaging 1.00
IGL02376:Ogdhl APN 14 32,065,275 (GRCm39) missense probably damaging 1.00
IGL02508:Ogdhl APN 14 32,067,131 (GRCm39) missense probably damaging 0.99
IGL02834:Ogdhl APN 14 32,047,903 (GRCm39) missense probably damaging 1.00
IGL03100:Ogdhl APN 14 32,064,029 (GRCm39) missense probably benign 0.03
R0044:Ogdhl UTSW 14 32,061,285 (GRCm39) missense possibly damaging 0.94
R0044:Ogdhl UTSW 14 32,061,285 (GRCm39) missense possibly damaging 0.94
R0207:Ogdhl UTSW 14 32,063,994 (GRCm39) splice site probably null
R0322:Ogdhl UTSW 14 32,059,534 (GRCm39) missense probably benign 0.09
R0357:Ogdhl UTSW 14 32,068,415 (GRCm39) missense possibly damaging 0.93
R0417:Ogdhl UTSW 14 32,048,936 (GRCm39) missense probably damaging 1.00
R0677:Ogdhl UTSW 14 32,061,882 (GRCm39) missense probably damaging 1.00
R1470:Ogdhl UTSW 14 32,068,745 (GRCm39) missense probably damaging 1.00
R1470:Ogdhl UTSW 14 32,068,745 (GRCm39) missense probably damaging 1.00
R1589:Ogdhl UTSW 14 32,047,822 (GRCm39) missense probably benign
R1831:Ogdhl UTSW 14 32,059,484 (GRCm39) missense probably damaging 0.99
R2059:Ogdhl UTSW 14 32,054,841 (GRCm39) missense probably damaging 1.00
R2133:Ogdhl UTSW 14 32,047,891 (GRCm39) missense probably benign
R2179:Ogdhl UTSW 14 32,057,302 (GRCm39) missense probably damaging 0.99
R2656:Ogdhl UTSW 14 32,054,783 (GRCm39) missense possibly damaging 0.89
R3607:Ogdhl UTSW 14 32,057,318 (GRCm39) missense probably damaging 1.00
R4617:Ogdhl UTSW 14 32,047,842 (GRCm39) missense probably benign
R4668:Ogdhl UTSW 14 32,054,493 (GRCm39) missense probably benign 0.00
R5419:Ogdhl UTSW 14 32,061,181 (GRCm39) missense probably damaging 1.00
R5575:Ogdhl UTSW 14 32,047,804 (GRCm39) missense possibly damaging 0.60
R5793:Ogdhl UTSW 14 32,054,730 (GRCm39) missense probably damaging 0.96
R5812:Ogdhl UTSW 14 32,054,822 (GRCm39) missense probably damaging 1.00
R5990:Ogdhl UTSW 14 32,049,071 (GRCm39) missense possibly damaging 0.77
R6224:Ogdhl UTSW 14 32,064,018 (GRCm39) missense probably benign 0.09
R7834:Ogdhl UTSW 14 32,062,666 (GRCm39) missense probably benign 0.05
R7837:Ogdhl UTSW 14 32,068,415 (GRCm39) missense possibly damaging 0.93
R8166:Ogdhl UTSW 14 32,059,763 (GRCm39) missense probably damaging 1.00
R9573:Ogdhl UTSW 14 32,066,678 (GRCm39) missense probably damaging 1.00
R9689:Ogdhl UTSW 14 32,059,523 (GRCm39) missense probably damaging 1.00
R9782:Ogdhl UTSW 14 32,061,909 (GRCm39) missense probably damaging 1.00
Z1177:Ogdhl UTSW 14 32,068,368 (GRCm39) missense possibly damaging 0.89
Z1177:Ogdhl UTSW 14 32,065,237 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTTTGGGCTCTTCAGGCTTTG -3'
(R):5'- TTAGTAGACGCCTCCAGTACCACC -3'

Sequencing Primer
(F):5'- GGAGTATCTGTCCAAGACCAGTC -3'
(R):5'- AGGTACAGATTGCCACTCTTG -3'
Posted On 2014-04-13