Mutagenetix > Incidental Mutation

Incidental Mutation 'R5333:Ogdh'

475512

Institutional Source

Beutler Lab

Gene Symbol

Ogdh

Ensembl Gene

ENSMUSG00000020456

Gene Name

oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)

Synonyms

2210403E04Rik, alpha-ketoglutarate dehydrogenase, d1401, 2210412K19Rik

MMRRC Submission

042915-MU

Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6352126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 850 (L850V)

Ref Sequence

ENSEMBL: ENSMUSP00000080569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554]

AlphaFold

Q60597

Predicted Effect

probably damaging
Transcript: ENSMUST00000003461
AA Change: L854V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: L854V

Domain	Start	End	E-Value	Type
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: L850V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: L850V

Domain	Start	End	E-Value	Type
Pfam:E1_dh	252	578	1e-96	PFAM
Transket_pyr	647	861	3.44e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093350
AA Change: L865V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: L865V

Domain	Start	End	E-Value	Type
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: L854V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: L854V

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.5483

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,194,337	Y61N	possibly damaging	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abca14	T	A	7: 120,289,546	Y1238*	probably null	Het
Abcb5	A	T	12: 118,867,942	V1225D	probably damaging	Het
Arhgef15	A	G	11: 68,947,196		probably benign	Het
As3mt	A	G	19: 46,708,196	R58G	probably null	Het
Asap1	T	G	15: 64,127,414	N525T	possibly damaging	Het
Bhmt2	A	G	13: 93,671,430	V50A	probably benign	Het
Ccdc180	A	T	4: 45,890,935	I36F	possibly damaging	Het
Cd209c	A	G	8: 3,944,976	S63P	probably damaging	Het
Cdc37	T	C	9: 21,143,161	E56G	possibly damaging	Het
Cdkal1	T	C	13: 29,326,152	Y541C	probably benign	Het
Cenph	G	T	13: 100,761,772	H208N	probably benign	Het
Cfap65	A	T	1: 74,903,175	L1740Q	probably benign	Het
Cfap74	A	G	4: 155,436,740	D623G	probably damaging	Het
Ckap4	C	A	10: 84,527,610	V530L	probably damaging	Het
Cldn13	A	T	5: 134,915,015	N105K	probably benign	Het
Ddn	T	C	15: 98,805,356	D685G	possibly damaging	Het
Fam155a	T	A	8: 9,770,762	Q86L	possibly damaging	Het
Fdxr	T	C	11: 115,272,258	I70V	probably benign	Het
Fn1	A	T	1: 71,624,180	Y1050N	probably damaging	Het
Impad1	A	C	4: 4,767,963	V271G	possibly damaging	Het
Iqcf3	A	G	9: 106,553,661	I96T	possibly damaging	Het
Itgax	A	G	7: 128,142,283	Y822C	probably damaging	Het
Katnb1	A	T	8: 95,095,606	I286L	possibly damaging	Het
Lrp2	A	C	2: 69,525,228	I424R	probably benign	Het
Lrpprc	C	A	17: 84,790,393	A41S	probably benign	Het
Mast3	A	G	8: 70,783,501	L761P	probably benign	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mpp4	C	A	1: 59,157,441	R44L	probably benign	Het
Nkain3	T	A	4: 20,484,889	M63L	probably benign	Het
Nup88	A	C	11: 70,945,016		probably benign	Het
Obscn	A	T	11: 59,062,692	C3837S	probably damaging	Het
Olfr1131	A	G	2: 87,629,114	Y217C	probably damaging	Het
Olfr1293-ps	A	G	2: 111,527,703	I148V	probably benign	Het
Panx2	T	C	15: 89,068,539	I411T	possibly damaging	Het
Papss1	T	A	3: 131,643,044	M585K	probably damaging	Het
Pcbp2	T	G	15: 102,486,021	L180R	possibly damaging	Het
Pcdha7	A	T	18: 36,974,566	T215S	probably benign	Het
Pcdhga4	C	T	18: 37,685,424	R9C	probably benign	Het
Plin4	A	G	17: 56,104,970	V687A	probably benign	Het
Psma6	A	G	12: 55,407,428		probably benign	Het
Rcn1	A	T	2: 105,389,126	S241T	probably benign	Het
Scgb2b18	A	T	7: 33,173,275	L35H	probably damaging	Het
Slc11a1	A	C	1: 74,384,145	D385A	probably damaging	Het
Stk31	T	A	6: 49,469,152	C930S	probably benign	Het
Syt10	T	A	15: 89,841,729	Q14L	probably benign	Het
Tnxb	T	G	17: 34,690,231	W1578G	probably damaging	Het
Triml1	C	T	8: 43,130,290	A425T	possibly damaging	Het
Vil1	G	A	1: 74,432,390	V777I	probably benign	Het
Vmn1r175	T	C	7: 23,808,579	I208V	possibly damaging	Het

Other mutations in Ogdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ogdh	APN	11	6348790	missense	probably damaging	1.00
IGL01503:Ogdh	APN	11	6355069	missense	probably damaging	1.00
IGL01684:Ogdh	APN	11	6342546	missense	probably damaging	1.00
IGL02141:Ogdh	APN	11	6355015	missense	probably damaging	1.00
IGL02313:Ogdh	APN	11	6355400	missense	probably damaging	0.98
IGL02818:Ogdh	APN	11	6348270	missense	probably benign
N/A - 535:Ogdh	UTSW	11	6324911	missense	possibly damaging	0.60
PIT4498001:Ogdh	UTSW	11	6340504	missense	probably benign	0.09
R0328:Ogdh	UTSW	11	6347216	missense	probably benign	0.01
R0505:Ogdh	UTSW	11	6339936	splice site	probably benign
R0627:Ogdh	UTSW	11	6347216	missense	possibly damaging	0.78
R1119:Ogdh	UTSW	11	6340544	missense	probably damaging	1.00
R1480:Ogdh	UTSW	11	6347827	critical splice acceptor site	probably null
R1591:Ogdh	UTSW	11	6349384	missense	probably damaging	1.00
R1804:Ogdh	UTSW	11	6338565	missense	probably damaging	1.00
R1873:Ogdh	UTSW	11	6340438	splice site	probably benign
R1959:Ogdh	UTSW	11	6346638	missense	possibly damaging	0.49
R2004:Ogdh	UTSW	11	6334626	missense	possibly damaging	0.90
R2080:Ogdh	UTSW	11	6349393	missense	probably benign	0.00
R2384:Ogdh	UTSW	11	6342526	missense	probably damaging	1.00
R2656:Ogdh	UTSW	11	6348678	missense	probably benign
R2883:Ogdh	UTSW	11	6334545	missense	probably damaging	1.00
R3405:Ogdh	UTSW	11	6349462	missense	probably damaging	1.00
R3838:Ogdh	UTSW	11	6338627	nonsense	probably null
R3933:Ogdh	UTSW	11	6342601	missense	possibly damaging	0.72
R3939:Ogdh	UTSW	11	6350655	nonsense	probably null
R4296:Ogdh	UTSW	11	6349374	missense	probably damaging	0.97
R4393:Ogdh	UTSW	11	6316772	missense	probably damaging	1.00
R4427:Ogdh	UTSW	11	6355421	missense	probably benign	0.01
R4667:Ogdh	UTSW	11	6340600	missense	probably benign	0.20
R4669:Ogdh	UTSW	11	6340600	missense	probably benign	0.20
R4728:Ogdh	UTSW	11	6342549	missense	probably damaging	1.00
R4737:Ogdh	UTSW	11	6297044	missense	probably benign
R4785:Ogdh	UTSW	11	6349875	missense	probably damaging	1.00
R4796:Ogdh	UTSW	11	6340570	missense	probably benign	0.01
R5592:Ogdh	UTSW	11	6316763	splice site	probably null
R6318:Ogdh	UTSW	11	6349390	missense	probably damaging	0.99
R6875:Ogdh	UTSW	11	6340477	missense	probably benign	0.12
R6988:Ogdh	UTSW	11	6313806	nonsense	probably null
R7406:Ogdh	UTSW	11	6348351	missense	probably benign	0.00
R7724:Ogdh	UTSW	11	6324887	missense	probably benign
R7763:Ogdh	UTSW	11	6338558	missense	probably benign
R7909:Ogdh	UTSW	11	6313965	missense	possibly damaging	0.55
R8207:Ogdh	UTSW	11	6349329	missense	probably benign	0.38
R8348:Ogdh	UTSW	11	6342619	missense	probably damaging	0.98
R8401:Ogdh	UTSW	11	6297174	nonsense	probably null
R8448:Ogdh	UTSW	11	6342619	missense	probably damaging	0.98
R8770:Ogdh	UTSW	11	6355336	missense	probably damaging	1.00
R8796:Ogdh	UTSW	11	6347129	missense	possibly damaging	0.75
R9132:Ogdh	UTSW	11	6340488	missense	probably benign	0.01
R9328:Ogdh	UTSW	11	6347838	missense	probably benign	0.30
R9479:Ogdh	UTSW	11	6347854	missense	possibly damaging	0.89
R9696:Ogdh	UTSW	11	6339209	missense	probably damaging	1.00
Z1088:Ogdh	UTSW	11	6355427	missense	probably benign
Z1177:Ogdh	UTSW	11	6297051	missense	probably benign
Z1177:Ogdh	UTSW	11	6316982	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCCTGGAGAGTAAACACCAG -3'
(R):5'- TCTAGAGGAACTTACAGTCTGAGATC -3'

Sequencing Primer
(F):5'- CCTGGAGAGTAAACACCAGAGGAG -3'
(R):5'- TCATGACTAAAAATCTAGAAAGAGCC -3'

Posted On

2017-05-11