Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Ogdh'

352060

Institutional Source

Beutler Lab

Gene Symbol

Ogdh

Ensembl Gene

ENSMUSG00000020456

Gene Name

oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)

Synonyms

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

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6241633-6306642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6290600 bp (GRCm39)

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: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Adgra3	T	A	5: 50,136,298 (GRCm39)	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,018,265 (GRCm39)	Y58H	probably damaging	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ankhd1	C	A	18: 36,781,074 (GRCm39)	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,845,387 (GRCm39)	K155R	probably benign	Het
Atp10b	T	C	11: 43,138,345 (GRCm39)	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,617,335 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Bnip5	G	T	17: 29,127,287 (GRCm39)	Q241K	possibly damaging	Het
Btbd17	A	G	11: 114,684,683 (GRCm39)	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,751,646 (GRCm39)	K267N	probably damaging	Het
Cd200l1	A	G	16: 45,264,526 (GRCm39)	S11P	probably benign	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cemip2	G	A	19: 21,774,715 (GRCm39)	R119H	probably benign	Het
Cemip2	C	T	19: 21,822,145 (GRCm39)	A1180V	probably benign	Het
Chd9	T	C	8: 91,760,428 (GRCm39)	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,108,624 (GRCm39)	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,192,960 (GRCm39)	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412 (GRCm39)	M99L	unknown	Het
Cpeb2	T	C	5: 43,391,235 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,970,170 (GRCm39)	T134A	possibly damaging	Het
Cst13	A	T	2: 148,665,001 (GRCm39)		probably benign	Het
Cyp2c66	T	A	19: 39,165,100 (GRCm39)	D360E	probably damaging	Het
Dhx8	A	G	11: 101,628,987 (GRCm39)	S179G	unknown	Het
Dip2b	A	G	15: 100,049,241 (GRCm39)	I212V	probably benign	Het
Dnah9	G	A	11: 66,046,357 (GRCm39)	H64Y	probably benign	Het
Dnal1	T	C	12: 84,183,474 (GRCm39)		probably benign	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411 (GRCm39)	I3175V	probably benign	Het
Elf5	A	G	2: 103,279,405 (GRCm39)	N209D	probably damaging	Het
Elovl1	A	G	4: 118,287,984 (GRCm39)	Y40C	probably damaging	Het
Erp27	T	C	6: 136,885,150 (GRCm39)	E216G	possibly damaging	Het
F5	G	A	1: 164,001,755 (GRCm39)	V153I	probably benign	Het
Fam186a	G	A	15: 99,842,413 (GRCm39)	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 22,453,362 (GRCm39)	H239L	possibly damaging	Het
Fchsd2	G	T	7: 100,899,656 (GRCm39)	R334L	probably damaging	Het
Fermt3	T	C	19: 6,980,288 (GRCm39)	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,199,395 (GRCm39)	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,350,216 (GRCm39)	Q332K	probably benign	Het
Frem3	T	C	8: 81,390,049 (GRCm39)	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gphn	T	C	12: 78,501,591 (GRCm39)	S119P	probably damaging	Het
Herc2	A	G	7: 55,781,001 (GRCm39)	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,146,111 (GRCm39)	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,746 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,266,956 (GRCm39)	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,071 (GRCm39)	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,023,875 (GRCm39)	I7F	probably benign	Het
Kcns3	C	A	12: 11,141,784 (GRCm39)	R305L	probably damaging	Het
Kcnu1	C	T	8: 26,400,949 (GRCm39)	A699V	possibly damaging	Het
Kif22	A	C	7: 126,632,500 (GRCm39)	L270W	probably damaging	Het
Lrp2	G	T	2: 69,319,642 (GRCm39)	H1960Q	probably benign	Het
Marchf7	C	T	2: 60,071,394 (GRCm39)	Q94*	probably null	Het
Mcoln3	A	T	3: 145,836,959 (GRCm39)	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572 (GRCm39)	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,917,636 (GRCm39)	C137R	probably benign	Het
Mmp25	A	G	17: 23,863,581 (GRCm39)	V83A	probably benign	Het
Mocos	T	C	18: 24,799,491 (GRCm39)	Y242H	probably benign	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,235,070 (GRCm39)	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mybbp1a	G	A	11: 72,338,797 (GRCm39)	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,239 (GRCm39)	E1272G	possibly damaging	Het
Nars1	A	G	18: 64,638,302 (GRCm39)	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,161,481 (GRCm39)	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,566,786 (GRCm39)	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,553 (GRCm39)	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,561,780 (GRCm39)	T430K	probably benign	Het
Odf2l	A	G	3: 144,833,801 (GRCm39)	T111A	probably benign	Het
Olfml2a	T	G	2: 38,839,022 (GRCm39)	S190A	probably damaging	Het
Optn	T	C	2: 5,037,950 (GRCm39)	K415E	probably benign	Het
Or10n1	T	C	9: 39,525,034 (GRCm39)	M57T	probably damaging	Het
Or52a20	A	G	7: 103,365,845 (GRCm39)	T15A	probably benign	Het
Or8b12i	T	C	9: 20,082,394 (GRCm39)	I158V	probably benign	Het
Or8g52	G	T	9: 39,631,005 (GRCm39)	V161F	probably benign	Het
Pakap	A	T	4: 57,855,655 (GRCm39)	D328V	possibly damaging	Het
Perm1	C	A	4: 156,304,663 (GRCm39)	S803*	probably null	Het
Pex14	T	C	4: 149,068,542 (GRCm39)	T84A	probably benign	Het
Pih1d2	T	A	9: 50,532,252 (GRCm39)	Y103*	probably null	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,894,805 (GRCm39)	N171S	probably benign	Het
Prrx1	A	G	1: 163,081,616 (GRCm39)	S201P	probably benign	Het
Psme2b	A	T	11: 48,836,493 (GRCm39)	N151K	probably benign	Het
Serpinb5	A	T	1: 106,800,025 (GRCm39)	T72S	probably benign	Het
Sgsm1	A	G	5: 113,407,913 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,180,209 (GRCm39)	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,000,520 (GRCm39)	T166A	probably benign	Het
Slc5a4b	T	C	10: 75,910,879 (GRCm39)	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,747,421 (GRCm39)	C109*	probably null	Het
Tcf25	A	G	8: 124,123,764 (GRCm39)	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tspan11	T	A	6: 127,920,678 (GRCm39)	C208*	probably null	Het
Ttc1	A	G	11: 43,636,144 (GRCm39)	V33A	probably benign	Het
Tut4	G	A	4: 108,352,356 (GRCm39)	E357K	probably damaging	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Utrn	A	C	10: 12,573,797 (GRCm39)	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,114,483 (GRCm39)	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,571,478 (GRCm39)	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,367,069 (GRCm39)	S162T	probably benign	Het
Vps37b	A	G	5: 124,148,795 (GRCm39)	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,585,006 (GRCm39)	M1V	probably null	Het
Wrn	A	T	8: 33,814,366 (GRCm39)	N116K	probably benign	Het
Wscd2	G	T	5: 113,715,333 (GRCm39)	G391V	probably damaging	Het
Zfp286	A	G	11: 62,671,428 (GRCm39)	V215A	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het

Other mutations in Ogdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ogdh	APN	11	6,298,790 (GRCm39)	missense	probably damaging	1.00
IGL01503:Ogdh	APN	11	6,305,069 (GRCm39)	missense	probably damaging	1.00
IGL01684:Ogdh	APN	11	6,292,546 (GRCm39)	missense	probably damaging	1.00
IGL02141:Ogdh	APN	11	6,305,015 (GRCm39)	missense	probably damaging	1.00
IGL02313:Ogdh	APN	11	6,305,400 (GRCm39)	missense	probably damaging	0.98
IGL02818:Ogdh	APN	11	6,298,270 (GRCm39)	missense	probably benign
N/A - 535:Ogdh	UTSW	11	6,274,911 (GRCm39)	missense	possibly damaging	0.60
PIT4498001:Ogdh	UTSW	11	6,290,504 (GRCm39)	missense	probably benign	0.09
R0328:Ogdh	UTSW	11	6,297,216 (GRCm39)	missense	probably benign	0.01
R0505:Ogdh	UTSW	11	6,289,936 (GRCm39)	splice site	probably benign
R0627:Ogdh	UTSW	11	6,297,216 (GRCm39)	missense	possibly damaging	0.78
R1119:Ogdh	UTSW	11	6,290,544 (GRCm39)	missense	probably damaging	1.00
R1480:Ogdh	UTSW	11	6,297,827 (GRCm39)	critical splice acceptor site	probably null
R1591:Ogdh	UTSW	11	6,299,384 (GRCm39)	missense	probably damaging	1.00
R1804:Ogdh	UTSW	11	6,288,565 (GRCm39)	missense	probably damaging	1.00
R1873:Ogdh	UTSW	11	6,290,438 (GRCm39)	splice site	probably benign
R1959:Ogdh	UTSW	11	6,296,638 (GRCm39)	missense	possibly damaging	0.49
R2004:Ogdh	UTSW	11	6,284,626 (GRCm39)	missense	possibly damaging	0.90
R2080:Ogdh	UTSW	11	6,299,393 (GRCm39)	missense	probably benign	0.00
R2384:Ogdh	UTSW	11	6,292,526 (GRCm39)	missense	probably damaging	1.00
R2656:Ogdh	UTSW	11	6,298,678 (GRCm39)	missense	probably benign
R2883:Ogdh	UTSW	11	6,284,545 (GRCm39)	missense	probably damaging	1.00
R3405:Ogdh	UTSW	11	6,299,462 (GRCm39)	missense	probably damaging	1.00
R3838:Ogdh	UTSW	11	6,288,627 (GRCm39)	nonsense	probably null
R3933:Ogdh	UTSW	11	6,292,601 (GRCm39)	missense	possibly damaging	0.72
R3939:Ogdh	UTSW	11	6,300,655 (GRCm39)	nonsense	probably null
R4296:Ogdh	UTSW	11	6,299,374 (GRCm39)	missense	probably damaging	0.97
R4393:Ogdh	UTSW	11	6,266,772 (GRCm39)	missense	probably damaging	1.00
R4427:Ogdh	UTSW	11	6,305,421 (GRCm39)	missense	probably benign	0.01
R4669:Ogdh	UTSW	11	6,290,600 (GRCm39)	missense	probably benign	0.20
R4728:Ogdh	UTSW	11	6,292,549 (GRCm39)	missense	probably damaging	1.00
R4737:Ogdh	UTSW	11	6,247,044 (GRCm39)	missense	probably benign
R4785:Ogdh	UTSW	11	6,299,875 (GRCm39)	missense	probably damaging	1.00
R4796:Ogdh	UTSW	11	6,290,570 (GRCm39)	missense	probably benign	0.01
R5333:Ogdh	UTSW	11	6,302,126 (GRCm39)	missense	probably damaging	1.00
R5592:Ogdh	UTSW	11	6,266,763 (GRCm39)	splice site	probably null
R6318:Ogdh	UTSW	11	6,299,390 (GRCm39)	missense	probably damaging	0.99
R6875:Ogdh	UTSW	11	6,290,477 (GRCm39)	missense	probably benign	0.12
R6988:Ogdh	UTSW	11	6,263,806 (GRCm39)	nonsense	probably null
R7406:Ogdh	UTSW	11	6,298,351 (GRCm39)	missense	probably benign	0.00
R7724:Ogdh	UTSW	11	6,274,887 (GRCm39)	missense	probably benign
R7763:Ogdh	UTSW	11	6,288,558 (GRCm39)	missense	probably benign
R7909:Ogdh	UTSW	11	6,263,965 (GRCm39)	missense	possibly damaging	0.55
R8207:Ogdh	UTSW	11	6,299,329 (GRCm39)	missense	probably benign	0.38
R8348:Ogdh	UTSW	11	6,292,619 (GRCm39)	missense	probably damaging	0.98
R8401:Ogdh	UTSW	11	6,247,174 (GRCm39)	nonsense	probably null
R8448:Ogdh	UTSW	11	6,292,619 (GRCm39)	missense	probably damaging	0.98
R8770:Ogdh	UTSW	11	6,305,336 (GRCm39)	missense	probably damaging	1.00
R8796:Ogdh	UTSW	11	6,297,129 (GRCm39)	missense	possibly damaging	0.75
R9132:Ogdh	UTSW	11	6,290,488 (GRCm39)	missense	probably benign	0.01
R9328:Ogdh	UTSW	11	6,297,838 (GRCm39)	missense	probably benign	0.30
R9479:Ogdh	UTSW	11	6,297,854 (GRCm39)	missense	possibly damaging	0.89
R9696:Ogdh	UTSW	11	6,289,209 (GRCm39)	missense	probably damaging	1.00
Z1088:Ogdh	UTSW	11	6,305,427 (GRCm39)	missense	probably benign
Z1177:Ogdh	UTSW	11	6,266,982 (GRCm39)	missense	probably benign	0.07
Z1177:Ogdh	UTSW	11	6,247,051 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCATTGAGAGTGAACCTC -3'
(R):5'- GTGACAAGTCTCTCCTGCTG -3'

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

Posted On

2015-10-08