Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Ogdh'

352288

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

041925-MU

Accession Numbers

Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6340600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 406 (C406F)

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: C395F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: C395F

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: C391F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: C391F

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: C406F

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: C406F

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: C395F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: C395F

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Acan	A	G	7: 79,101,142	E464G	probably benign	Het
Agap1	A	G	1: 89,837,806		probably null	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,902,919		probably benign	Het
Arap3	T	C	18: 37,996,254	D217G	probably benign	Het
Arl2	C	A	19: 6,134,686	R179L	probably damaging	Het
Atg2a	T	A	19: 6,258,987		probably null	Het
B3gat1	T	A	9: 26,751,756	L6Q	probably benign	Het
Bcl10	A	G	3: 145,930,572	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Brms1l	A	G	12: 55,841,571	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,315,025	N414K	possibly damaging	Het
Capn2	C	T	1: 182,470,780	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,245,724	R99M	probably damaging	Het
Ccdc51	A	G	9: 109,090,962	N142S	probably benign	Het
Ccdc58	A	G	16: 36,082,719	D27G	probably damaging	Het
Cdipt	A	G	7: 126,978,406	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Cts3	C	T	13: 61,566,823	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,937,855	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,643,654	H90L	probably benign	Het
Ddx4	T	C	13: 112,622,244	Y261C	probably damaging	Het
Dnah17	T	C	11: 118,074,293	T2308A	probably benign	Het
Dnah6	T	C	6: 73,037,688	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,432,368	V494I	possibly damaging	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,910,797	I78V	probably benign	Het
Esam	T	A	9: 37,536,656	Y195*	probably null	Het
Extl3	T	A	14: 65,076,296	N479I	possibly damaging	Het
Fat2	A	G	11: 55,311,615	V211A	probably benign	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gnmt	A	T	17: 46,726,299	C186*	probably null	Het
Gpr75	A	T	11: 30,892,072	I326F	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-T23	G	T	17: 36,031,798	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Irf9	C	A	14: 55,605,766	H94N	probably benign	Het
Jhy	T	C	9: 40,961,153	N20S	probably benign	Het
Klf17	C	A	4: 117,760,371	C263F	probably damaging	Het
Lama5	T	C	2: 180,180,637	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,311,028	I882S	probably damaging	Het
Ltn1	A	T	16: 87,418,487	M420K	possibly damaging	Het
Mael	T	C	1: 166,235,508	E125G	probably damaging	Het
Mib2	C	T	4: 155,657,415	D275N	possibly damaging	Het
Mical3	C	T	6: 120,957,703	R1805Q	probably damaging	Het
Mllt10	A	G	2: 18,203,633	D158G	probably damaging	Het
Mocs1	A	G	17: 49,454,585	D569G	possibly damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,795,964	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,187,755	V164A	probably benign	Het
Nek9	T	C	12: 85,314,204	E518G	probably benign	Het
Nfatc2	T	C	2: 168,571,490	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,375,368	A746T	possibly damaging	Het
Nupl2	A	G	5: 24,182,417	R402G	probably benign	Het
Olfr1045	A	T	2: 86,197,933	M273K	possibly damaging	Het
Olfr1225	G	A	2: 89,170,901	H104Y	probably damaging	Het
Olfr146	T	A	9: 39,019,379	Y54F	probably benign	Het
Olfr411	A	G	11: 74,346,963	V207A	probably benign	Het
Olfr881	A	T	9: 37,993,085	I198F	possibly damaging	Het
Otof	A	G	5: 30,420,974		probably null	Het
Pcdhb17	T	C	18: 37,486,206	S350P	probably damaging	Het
Phf3	T	C	1: 30,829,946	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,352,093	E465G	probably damaging	Het
Prkg1	T	A	19: 31,664,239	I15F	probably damaging	Het
Rab5c	A	G	11: 100,720,017	F22L	probably damaging	Het
Raf1	A	G	6: 115,632,919	S220P	probably damaging	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rhbg	C	A	3: 88,245,966	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,209,189	E159G	possibly damaging	Het
Ryr1	T	C	7: 29,059,831	D3338G	probably null	Het
Sash1	T	C	10: 8,730,385	N747S	probably benign	Het
Serpina3g	A	T	12: 104,239,220	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,585,774	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,354,295	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,672,565	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,856,011	Y164H	probably benign	Het
Snx9	A	G	17: 5,927,224	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,373	V704A	probably benign	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Strap	C	A	6: 137,735,386	S11*	probably null	Het
Synpo2	A	G	3: 123,113,063	L868P	probably damaging	Het
Tenm2	A	G	11: 36,010,487	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Tmf1	A	T	6: 97,170,427	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,217,639	I576V	probably benign	Het
Upk1a	T	G	7: 30,605,129	T193P	probably benign	Het
Vmn2r67	A	T	7: 85,150,524	V502E	probably benign	Het
Wdr17	A	G	8: 54,690,048	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,151,696	S161C	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het
Zfp605	T	A	5: 110,127,361	M115K	possibly damaging	Het
Zp1	T	A	19: 10,918,905	H152L	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
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'- TGCCATTGAGAGTGAACCTC -3'
(R):5'- GACAAGTCTCTCCTGCTGTC -3'

Sequencing Primer
(F):5'- AAAGGTGTGTCTACCACTGC -3'
(R):5'- GCTGTCTGCATCCCACAC -3'

Posted On

2015-10-08