Incidental Mutation 'IGL02508:Ogdhl'
ID296433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ogdhl
Ensembl Gene ENSMUSG00000021913
Gene Nameoxoglutarate dehydrogenase-like
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02508
Quality Score
Status
Chromosome14
Chromosomal Location32322019-32348151 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 32345174 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 861 (M861R)
Ref Sequence ENSEMBL: ENSMUSP00000154185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022480] [ENSMUST00000228529]
Predicted Effect probably damaging
Transcript: ENSMUST00000022480
AA Change: M880R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: M880R

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 damaging
Transcript: ENSMUST00000228529
AA Change: M861R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
AI429214 T G 8: 36,994,086 D129E probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Arhgap39 A G 15: 76,724,984 *1079Q probably null Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Furin G A 7: 80,392,521 T442I probably benign Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klhl26 A T 8: 70,452,731 D95E probably damaging Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr692 A T 7: 105,368,536 H61L possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in Ogdhl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ogdhl APN 14 32333712 missense probably damaging 1.00
IGL00425:Ogdhl APN 14 32346490 missense probably damaging 1.00
IGL01509:Ogdhl APN 14 32337759 missense probably damaging 1.00
IGL01704:Ogdhl APN 14 32337631 splice site probably benign
IGL01760:Ogdhl APN 14 32339937 missense probably damaging 1.00
IGL02376:Ogdhl APN 14 32343318 missense probably damaging 1.00
IGL02834:Ogdhl APN 14 32325946 missense probably damaging 1.00
IGL03100:Ogdhl APN 14 32342072 missense probably benign 0.03
R0044:Ogdhl UTSW 14 32339328 missense possibly damaging 0.94
R0044:Ogdhl UTSW 14 32339328 missense possibly damaging 0.94
R0207:Ogdhl UTSW 14 32342037 splice site probably null
R0322:Ogdhl UTSW 14 32337577 missense probably benign 0.09
R0357:Ogdhl UTSW 14 32346458 missense possibly damaging 0.93
R0417:Ogdhl UTSW 14 32326979 missense probably damaging 1.00
R0677:Ogdhl UTSW 14 32339925 missense probably damaging 1.00
R1470:Ogdhl UTSW 14 32346788 missense probably damaging 1.00
R1470:Ogdhl UTSW 14 32346788 missense probably damaging 1.00
R1541:Ogdhl UTSW 14 32340667 missense possibly damaging 0.80
R1589:Ogdhl UTSW 14 32325865 missense probably benign
R1831:Ogdhl UTSW 14 32337527 missense probably damaging 0.99
R2059:Ogdhl UTSW 14 32332884 missense probably damaging 1.00
R2133:Ogdhl UTSW 14 32325934 missense probably benign
R2179:Ogdhl UTSW 14 32335345 missense probably damaging 0.99
R2656:Ogdhl UTSW 14 32332826 missense possibly damaging 0.89
R3607:Ogdhl UTSW 14 32335361 missense probably damaging 1.00
R4617:Ogdhl UTSW 14 32325885 missense probably benign
R4668:Ogdhl UTSW 14 32332536 missense probably benign 0.00
R5419:Ogdhl UTSW 14 32339224 missense probably damaging 1.00
R5575:Ogdhl UTSW 14 32325847 missense possibly damaging 0.60
R5793:Ogdhl UTSW 14 32332773 missense probably damaging 0.96
R5812:Ogdhl UTSW 14 32332865 missense probably damaging 1.00
R5990:Ogdhl UTSW 14 32327114 missense possibly damaging 0.77
R6224:Ogdhl UTSW 14 32342061 missense probably benign 0.09
Posted On2015-04-16