Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Ogdh'

308611

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

040826-MU

Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 6350655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 827 (W827*)

Ref Sequence

ENSEMBL: ENSMUSP00000099090 (fasta)

Gene Model

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

AlphaFold

Q60597

Predicted Effect

probably null
Transcript: ENSMUST00000003461
AA Change: W827*

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: W827*

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 null
Transcript: ENSMUST00000081894
AA Change: W823*

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: W823*

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 null
Transcript: ENSMUST00000093350
AA Change: W838*

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: W838*

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 null
Transcript: ENSMUST00000101554
AA Change: W827*

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: W827*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Atp13a2	T	C	4: 141,006,422	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,469,489	R169L	probably damaging	Het
Col13a1	T	C	10: 61,863,082	I491V	unknown	Het
Corin	T	C	5: 72,339,879	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 120,051,644	V231I	probably benign	Het
Dennd4c	T	G	4: 86,774,280	V9G	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Faf1	T	G	4: 109,861,879	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,156,494	D116N	probably null	Het
Flt3	A	G	5: 147,356,243	Y518H	possibly damaging	Het
Frem3	T	C	8: 80,615,020	I1314T	possibly damaging	Het
Gk2	T	A	5: 97,455,352	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,784,614	E120V	probably damaging	Het
Hip1	A	T	5: 135,428,764	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,096	D266E	probably damaging	Het
Kdr	C	T	5: 75,972,429	W63*	probably null	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Megf8	G	A	7: 25,359,202	V2208I	probably benign	Het
Neto2	G	A	8: 85,674,118	T16I	probably damaging	Het
Nktr	T	A	9: 121,749,069		probably benign	Het
Nrxn1	A	G	17: 90,208,421	I1207T	probably damaging	Het
Obox7	G	A	7: 14,664,047	G4D	probably benign	Het
Olfr1223	T	A	2: 89,144,130	K298*	probably null	Het
Olfr309	T	C	7: 86,306,229	M295V	probably benign	Het
Olfr726	A	G	14: 50,083,716	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,738,942	R608H	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sbpl	T	A	17: 23,953,643	I101L	probably benign	Het
Serpina9	T	A	12: 104,008,892	M1L	probably benign	Het
Stxbp6	A	G	12: 44,902,858		probably null	Het
Synpo2	A	G	3: 123,114,590	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,129,318	L155H	probably damaging	Het
Vil1	A	G	1: 74,432,415	D785G	probably benign	Het
Zfp345	G	A	2: 150,472,553	H355Y	probably 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
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
R5333:Ogdh	UTSW	11	6352126	missense	probably damaging	1.00
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'- CCTCAGTGAGTCCTTGAGTGTC -3'
(R):5'- AACTGACTTCTGAGACCACG -3'

Sequencing Primer
(F):5'- CTTGAGTGTCCTGAGAGACATCC -3'
(R):5'- CCTTTAGGTATCACTCAACCAATC -3'

Posted On

2015-04-17