Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Ogdh'

47496

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

038700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6241633-6306642 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 6289936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099090 (fasta)

Gene Model

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

AlphaFold

Q60597

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

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	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
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
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'- TGACTACAGAGTCGGTCTCAAAGCC -3'
(R):5'- CAGAAGGAATATCCTTGCCCCAGC -3'

Sequencing Primer
(F):5'- agggcaggaaaatcacaaaac -3'
(R):5'- CCCCAGCAGGAGGAATATAAG -3'

Posted On

2013-06-12