Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Ogdh'

574751

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

Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6348351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 641 (T641A)

Ref Sequence

ENSEMBL: ENSMUSP00000091041 (fasta)

Gene Model

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

AlphaFold

Q60597

PDB Structure

Structure of the m67 high-affinity mutant of the 2C TCR in complex with Ld/QL9 [X-RAY DIFFRACTION]
42F3 QL9/H2-Ld complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000003461
AA Change: T630A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: T630A

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 benign
Transcript: ENSMUST00000081894
AA Change: T626A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: T626A

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 benign
Transcript: ENSMUST00000093350
AA Change: T641A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: T641A

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 benign
Transcript: ENSMUST00000101554
AA Change: T630A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: T630A

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

0.0596

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,509	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,515,464	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,461,762	V74A	probably benign	Het
Agrn	A	C	4: 156,172,301	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,812,956	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,978,750	Y497C	probably damaging	Het
BC053393	A	G	11: 46,577,458	T120A	possibly damaging	Het
Bpifa2	T	G	2: 154,009,819	S58R	probably benign	Het
Cacna1h	C	T	17: 25,385,626	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,463,324	L112*	probably null	Het
Cd300e	A	T	11: 115,055,302	I111N	probably damaging	Het
Cdkl3	A	T	11: 52,033,542	E552D	probably benign	Het
Chst5	A	G	8: 111,890,613	V125A	probably benign	Het
Clock	A	T	5: 76,266,845	M1K	probably null	Het
Cops7b	T	A	1: 86,601,130	L193Q	probably benign	Het
Csmd1	T	C	8: 16,288,693	T467A	probably damaging	Het
Ctr9	A	G	7: 111,053,408	E971G	unknown	Het
Dcp2	A	G	18: 44,410,187	T271A	probably benign	Het
Dsp	A	G	13: 38,197,196	N2639S	possibly damaging	Het
Fam160a1	T	C	3: 85,730,477	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912	C212W	probably benign	Het
Gpr179	G	T	11: 97,351,594	D141E	probably damaging	Het
Hdhd2	C	T	18: 76,944,115	T89M	probably benign	Het
Hist1h2bc	A	G	13: 23,684,359	Y43C	probably damaging	Het
Krt6b	T	G	15: 101,679,078	T194P	probably benign	Het
Lrp1b	T	C	2: 41,376,018		probably null	Het
Maneal	A	T	4: 124,860,368	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 121,590,616	C11S	unknown	Het
Mapt	G	A	11: 104,322,524	G296E	possibly damaging	Het
Mettl7a3	T	C	15: 100,335,408	V160A	probably benign	Het
Mgam	A	G	6: 40,663,525	N509S	probably benign	Het
Mrgprx1	T	A	7: 48,021,985	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,787,734	D416G	probably benign	Het
Ncan	T	G	8: 70,110,099	D503A	probably benign	Het
Nedd1	A	T	10: 92,711,323		probably null	Het
Olfr11	T	C	13: 21,639,146	I126V	probably benign	Het
Olfr730	T	A	14: 50,186,558	I221F	probably damaging	Het
Olfr818	A	T	10: 129,945,566	D50E	probably benign	Het
Olfr904	T	A	9: 38,464,143	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,726,185	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 116,354,007	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,245,938	S229T	possibly damaging	Het
Prss43	T	G	9: 110,828,696	I221S	probably damaging	Het
Rasal1	A	T	5: 120,662,937	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,334,560	E348*	probably null	Het
Sfxn5	A	G	6: 85,267,907	Y169H	probably damaging	Het
Skint9	T	C	4: 112,389,231	N228S	probably benign	Het
Slx4ip	A	T	2: 137,000,242	D29V	probably damaging	Het
Snx29	G	T	16: 11,755,316	G474V	probably damaging	Het
Spata6	T	A	4: 111,780,820	D282E	possibly damaging	Het
Srek1	A	T	13: 103,769,382	V77E	probably damaging	Het
Tnfrsf22	T	C	7: 143,640,827	D121G	probably damaging	Het
Ucma	G	A	2: 4,985,359	W122*	probably null	Het
Vmn2r124	T	C	17: 18,062,044	M113T	unknown	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Vmn2r8	A	G	5: 108,800,576	L482S	probably benign	Het
Vwa3a	T	A	7: 120,778,915	I476N	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr26	A	T	1: 181,187,675	S390R	probably damaging	Het
Zbtb40	A	T	4: 137,000,894	S471T	probably benign	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
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
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'- TAGAAAGGCAGAGCTGTTTCTC -3'
(R):5'- TAGGAGCGCAAAGTGATGCC -3'

Sequencing Primer
(F):5'- AGAGCTGTTTCTCTGATCTGC -3'
(R):5'- GCAAAGTGATGCCCCCTTAGTTG -3'

Posted On

2019-10-07