Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Ogdh'

543094

Institutional Source

Beutler Lab

Gene Symbol

Ogdh

Ensembl Gene

ENSMUSG00000020456

Gene Name

oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)

Synonyms

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

Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 6313806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 81 (R81*)

Ref Sequence

ENSEMBL: ENSMUSP00000117323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554] [ENSMUST00000135124] [ENSMUST00000140765]

AlphaFold

Q60597

Predicted Effect

probably null
Transcript: ENSMUST00000003461
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: R81*

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: R81*

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: R81*

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: R81*

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: R81*

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: R81*

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: R81*

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: ENSMUST00000135124
AA Change: R81*

Predicted Effect

probably null
Transcript: ENSMUST00000140765
AA Change: R81*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	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
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
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'- CTTTTGTGAGGTGGGTTAAGTAATAA -3'
(R):5'- CCTGATATGCCCTGATGAGAGA -3'

Sequencing Primer
(F):5'- ACTGCTCTTCCAAAGGTACTGAG -3'
(R):5'- TATGCCCTGATGAGAGACTGCAC -3'

Posted On

2018-11-28