Mutagenetix > Incidental Mutations

Incidental Mutation 'R7724:Ogdh'

595406

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7724 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6324887 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000091041 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456

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

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456

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: V172A

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

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: V172A

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

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,250	N148D	possibly damaging	Het
9130401M01Rik	A	C	15: 58,022,461	S342A	probably benign	Het
Adarb2	C	A	13: 8,570,256	H259Q	probably benign	Het
Ak7	T	A	12: 105,716,030	I150N	probably damaging	Het
Arhgef12	A	T	9: 43,027,271	I75N	probably damaging	Het
Arhgef17	C	T	7: 100,880,609	G480S	probably damaging	Het
Atic	T	C	1: 71,564,901	Y208H	probably damaging	Het
Atp8b4	T	A	2: 126,322,893	N1168Y	possibly damaging	Het
Cdh15	G	T	8: 122,866,961	D765Y	probably damaging	Het
Celf4	C	T	18: 25,486,793		probably null	Het
Cep57l1	G	A	10: 41,745,842	T26M	possibly damaging	Het
Ces2g	T	A	8: 104,966,852	D388E	probably benign	Het
Cir1	T	C	2: 73,306,890	N69S	possibly damaging	Het
Ctc1	C	A	11: 69,026,344	H355N	probably benign	Het
Ebf2	A	T	14: 67,424,040	K539M	probably damaging	Het
Ehbp1	G	A	11: 22,089,572	H843Y	probably null	Het
Fat2	C	T	11: 55,284,796	G1697E	probably damaging	Het
Fga	A	G	3: 83,029,125	D76G	probably damaging	Het
Fn1	A	T	1: 71,603,735	S1786T	probably benign	Het
Frmpd1	A	T	4: 45,229,888	E18D	probably damaging	Het
Gbp8	A	T	5: 105,031,294	I113N	probably damaging	Het
Gm10549	A	T	18: 33,470,859	R132*	probably null	Het
Gmps	T	A	3: 63,985,653	D126E	possibly damaging	Het
Gria4	A	G	9: 4,472,074	Y472H	probably damaging	Het
Helz2	T	C	2: 181,231,996	Y2235C	probably damaging	Het
Hrnr	A	G	3: 93,323,016	N187S	unknown	Het
Ifit1bl1	T	C	19: 34,594,005	K351E	probably benign	Het
Klhl23	A	G	2: 69,824,712	T309A	probably benign	Het
Ldhal6b	A	G	17: 5,418,602	V19A	probably benign	Het
Lrrc59	C	T	11: 94,643,344	R243C	probably damaging	Het
Magi3	A	C	3: 104,015,927	I1158R	probably benign	Het
Mical2	T	A	7: 112,323,626	Y613N	probably damaging	Het
Myoc	T	A	1: 162,639,827		probably null	Het
Npas3	C	A	12: 54,068,341	S682Y	possibly damaging	Het
Olfr1076	A	G	2: 86,508,605	T49A	probably damaging	Het
Olfr284	A	T	15: 98,340,894	S32T	possibly damaging	Het
Olfr325	T	A	11: 58,581,382	H179Q	probably benign	Het
Olfr584	T	A	7: 103,086,263	C243*	probably null	Het
Olfr682-ps1	A	G	7: 105,128,252	Y52H	probably damaging	Het
P2rx7	A	T	5: 122,673,373	I331F	probably benign	Het
Pcdhb14	A	T	18: 37,448,884	T348S	possibly damaging	Het
Prdx6b	A	G	2: 80,293,402	E185G	probably benign	Het
Rdh1	A	G	10: 127,764,707	K200E	possibly damaging	Het
Sema6c	A	T	3: 95,173,199	R935W	probably damaging	Het
Serpinb5	A	T	1: 106,875,142	I136F	probably damaging	Het
Skint10	A	T	4: 112,765,092	Y31*	probably null	Het
St6galnac1	C	T	11: 116,766,072		probably null	Het
Synj1	G	A	16: 90,961,499	T819M	probably damaging	Het
Tacr3	T	A	3: 134,929,908	V291E	probably damaging	Het
Tdo2	A	G	3: 81,968,083		probably null	Het
Tex15	T	A	8: 33,546,263	D72E	possibly damaging	Het
Tph2	T	C	10: 115,079,822	T438A	probably benign	Het
Uaca	A	G	9: 60,869,905	T525A	probably benign	Het
Ulk1	A	T	5: 110,792,404	C384S	probably benign	Het
Uvrag	T	C	7: 98,991,963	D290G	probably benign	Het
Zfp541	T	C	7: 16,071,994	L18P	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
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
R7406:Ogdh	UTSW	11	6348351	missense	probably benign	0.00
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
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'- AGCAGTTGAACCCCTGATCAC -3'
(R):5'- GGTCACAGCTCTACTTGTTGG -3'

Sequencing Primer
(F):5'- AAAACCCATCCTTGTATCTGTGTGTG -3'
(R):5'- CACAGCTCTACTTGTTGGTTAATAAC -3'

Posted On

2019-11-12