Mutagenetix > Incidental Mutation

Incidental Mutation 'R4785:Ogdh'

366993

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

042417-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6241633-6306642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6299875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 794 (F794L)

Ref Sequence

ENSEMBL: ENSMUSP00000080569 (fasta)

Gene Model

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

AlphaFold

Q60597

Predicted Effect

probably damaging
Transcript: ENSMUST00000003461
AA Change: F798L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: F798L

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 damaging
Transcript: ENSMUST00000081894
AA Change: F794L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: F794L

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: F809L

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

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: F809L

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 damaging
Transcript: ENSMUST00000101554
AA Change: F798L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: F798L

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: 96.9%
20x: 94.4%

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,839,406 (GRCm39)	D13G	probably benign	Het
4930442H23Rik	C	T	10: 81,018,978 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,873,054 (GRCm39)	S341T	probably damaging	Het
Adamts2	A	G	11: 50,683,549 (GRCm39)	I944V	probably benign	Het
Adcy3	A	G	12: 4,256,542 (GRCm39)	T783A	probably benign	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Anapc13	T	C	9: 102,507,020 (GRCm39)	I11T	probably benign	Het
Ankrd12	T	A	17: 66,289,994 (GRCm39)	N1813I	probably damaging	Het
Anks1b	A	T	10: 90,750,612 (GRCm39)	I176F	probably null	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Atp1a4	A	T	1: 172,081,677 (GRCm39)	Y158*	probably null	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B430203G13Rik	A	T	12: 17,974,520 (GRCm39)		noncoding transcript	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
Ccn3	A	T	15: 54,615,603 (GRCm39)		probably null	Het
Ccnd2	T	C	6: 127,125,761 (GRCm39)	T92A	possibly damaging	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Ccr2	G	A	9: 123,906,409 (GRCm39)	V230I	probably benign	Het
Cct4	T	A	11: 22,952,866 (GRCm39)	V514E	probably damaging	Het
Cep152	A	G	2: 125,428,249 (GRCm39)		probably null	Het
Cflar	C	T	1: 58,791,726 (GRCm39)	T343M	probably benign	Het
Chrm5	A	C	2: 112,309,930 (GRCm39)	N395K	probably benign	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Chrna6	T	A	8: 27,897,134 (GRCm39)	I248F	probably damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Clstn3	T	C	6: 124,414,331 (GRCm39)		probably null	Het
Cntnap5a	C	T	1: 116,029,295 (GRCm39)	R250W	probably benign	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2a4	G	A	7: 26,012,300 (GRCm39)	R361K	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnah3	T	A	7: 119,567,047 (GRCm39)	K2393M	probably benign	Het
Dpy19l1	A	T	9: 24,336,119 (GRCm39)	L529Q	probably damaging	Het
Eif4g2	C	T	7: 110,676,003 (GRCm39)	R399H	probably damaging	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fbxw26	A	G	9: 109,553,868 (GRCm39)	V257A	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Fndc3c1	A	T	X: 105,481,308 (GRCm39)	S661R	possibly damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Gbf1	G	T	19: 46,256,834 (GRCm39)	C812F	possibly damaging	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Got1	A	G	19: 43,491,376 (GRCm39)	I358T	possibly damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Grin2d	A	G	7: 45,506,205 (GRCm39)	V562A	probably damaging	Het
Grm6	A	G	11: 50,748,104 (GRCm39)	I405V	probably benign	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hcfc1	T	C	X: 73,009,552 (GRCm39)	K20E	probably damaging	Het
Iars1	T	A	13: 49,878,139 (GRCm39)	Y888N	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Impg1	A	G	9: 80,305,732 (GRCm39)	S112P	probably benign	Het
Incenp	C	A	19: 9,855,054 (GRCm39)	R619M	unknown	Het
Incenp	T	A	19: 9,855,055 (GRCm39)	R619W	unknown	Het
Kat2b	A	G	17: 53,960,231 (GRCm39)	E513G	possibly damaging	Het
Kbtbd12	G	T	6: 88,595,003 (GRCm39)	L276I	probably damaging	Het
Kctd9	T	A	14: 67,971,613 (GRCm39)	D229E	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Kif2b	G	A	11: 91,467,254 (GRCm39)	P343L	probably benign	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lclat1	T	A	17: 73,547,065 (GRCm39)	Y327*	probably null	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrp1	T	C	10: 127,394,002 (GRCm39)	N2621S	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Lysmd1	A	G	3: 95,042,297 (GRCm39)	Y57C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mios	T	A	6: 8,222,464 (GRCm39)	M466K	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Mrpl24	T	C	3: 87,829,357 (GRCm39)		probably null	Het
Myo1f	A	G	17: 33,817,165 (GRCm39)	N736S	possibly damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Nampt	T	C	12: 32,898,713 (GRCm39)	L443P	possibly damaging	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nek10	A	T	14: 14,855,714 (GRCm38)	T403S	probably benign	Het
Nme8	C	A	13: 19,842,100 (GRCm39)	V219L	probably damaging	Het
Nps	T	A	7: 134,870,517 (GRCm39)	L13Q	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or14a259	C	A	7: 86,012,943 (GRCm39)	G201C	probably damaging	Het
Or14c39	T	C	7: 86,343,736 (GRCm39)	L24P	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5a3	A	T	19: 12,400,341 (GRCm39)	I223F	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Pik3cg	T	C	12: 32,255,198 (GRCm39)	E263G	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Poldip3	T	C	15: 83,015,702 (GRCm39)	Y305C	probably damaging	Het
Prkdc	T	C	16: 15,466,840 (GRCm39)	I107T	probably benign	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptprd	T	C	4: 76,058,790 (GRCm39)	T168A	probably benign	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rasl12	A	G	9: 65,320,730 (GRCm39)	Y156C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,664,551 (GRCm39)	E694G	probably benign	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Ripply2	A	T	9: 86,901,849 (GRCm39)	N125I	probably damaging	Het
Rps6kc1	A	T	1: 190,482,385 (GRCm39)	H284Q	probably benign	Het
Scara3	A	T	14: 66,190,950 (GRCm39)	M1K	probably null	Het
Sfswap	A	G	5: 129,590,147 (GRCm39)	T215A	probably damaging	Het
Shroom2	A	C	X: 151,443,903 (GRCm39)	F421V	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slamf8	G	T	1: 172,411,781 (GRCm39)	P238Q	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc5a7	A	T	17: 54,585,728 (GRCm39)	I363N	probably damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Slc7a2	T	A	8: 41,364,095 (GRCm39)	M436K	probably benign	Het
Spindoc	A	G	19: 7,351,456 (GRCm39)	S223P	probably benign	Het
Stk11ip	T	C	1: 75,506,925 (GRCm39)	F669L	possibly damaging	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r139	T	G	6: 42,118,218 (GRCm39)	F117V	probably damaging	Het
Tdrd6	T	C	17: 43,936,467 (GRCm39)	Y1527C	probably damaging	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tfeb	T	A	17: 48,099,152 (GRCm39)		probably null	Het
Tmco4	T	C	4: 138,725,350 (GRCm39)	S121P	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,378 (GRCm39)	W440R	probably damaging	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Tssk1	G	A	16: 17,712,926 (GRCm39)	R237H	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr3	T	A	2: 69,789,947 (GRCm39)	V867D	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Utrn	T	G	10: 12,530,489 (GRCm39)	Q2108P	probably benign	Het
Vcan	T	C	13: 89,853,908 (GRCm39)	N351D	probably damaging	Het
Vmn1r61	A	T	7: 5,614,124 (GRCm39)	Y63*	probably null	Het
Vmn1r61	A	T	7: 5,614,126 (GRCm39)	Y63N	probably benign	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Zbtb21	A	C	16: 97,751,655 (GRCm39)	V190G	possibly damaging	Het
Zfp157	C	A	5: 138,443,051 (GRCm39)	T14N	probably damaging	Het
Zfp942	A	T	17: 22,148,400 (GRCm39)	H76Q	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
R4667:Ogdh	UTSW	11	6,290,600 (GRCm39)	missense	probably benign	0.20
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
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'- CAAGTACTCAGCTCCCTCTG -3'
(R):5'- CCTAAGAGTTCAGGCTGAGG -3'

Sequencing Primer
(F):5'- GCCCTGCTGCTCTGTGC -3'
(R):5'- GCTGGCTTTCTGCAACAG -3'

Posted On

2015-12-29