Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Ogdh'

359357

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

042024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6291633-6356642 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6297044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 23 (F23I)

Ref Sequence

ENSEMBL: ENSMUSP00000117323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003461] [ENSMUST00000081894] [ENSMUST00000093350] [ENSMUST00000101554] [ENSMUST00000135124] [ENSMUST00000140765]

AlphaFold

Q60597

Predicted Effect

probably benign
Transcript: ENSMUST00000003461
AA Change: F23I

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

SMART Domains

Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: F23I

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: F23I

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

SMART Domains

Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: F23I

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: F23I

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

SMART Domains

Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: F23I

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: F23I

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

SMART Domains

Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: F23I

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

noncoding transcript
Transcript: ENSMUST00000125929

Predicted Effect

probably benign
Transcript: ENSMUST00000135124
AA Change: F23I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140765
AA Change: F23I

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

Meta Mutation Damage Score

0.0574

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,227,819 (GRCm38)		noncoding transcript	Het
Acp2	A	T	2: 91,210,723 (GRCm38)	R419W	probably benign	Het
Actr5	A	G	2: 158,628,071 (GRCm38)	N207S	probably damaging	Het
Afap1	G	A	5: 35,961,782 (GRCm38)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,189,611 (GRCm38)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,519,077 (GRCm38)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,216,772 (GRCm38)		noncoding transcript	Het
Carf	A	G	1: 60,109,318 (GRCm38)	T58A	probably benign	Het
Carns1	A	G	19: 4,170,928 (GRCm38)		probably benign	Het
Ccp110	T	A	7: 118,724,548 (GRCm38)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,883 (GRCm38)	D1218E	probably benign	Het
Chrna9	A	T	5: 65,967,871 (GRCm38)	T52S	probably damaging	Het
Chst9	T	C	18: 15,452,777 (GRCm38)	Y243C	probably damaging	Het
Clk2	A	T	3: 89,168,709 (GRCm38)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,060,317 (GRCm38)	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,421,406 (GRCm38)	D369N	probably benign	Het
Crhr2	G	T	6: 55,091,305 (GRCm38)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,249,521 (GRCm38)	I33F	probably damaging	Het
Dbt	T	C	3: 116,539,132 (GRCm38)	I200T	probably damaging	Het
Ddhd1	A	T	14: 45,628,821 (GRCm38)		probably benign	Het
Ddx27	A	G	2: 167,029,299 (GRCm38)	I480V	probably benign	Het
Dpp9	A	C	17: 56,198,970 (GRCm38)		probably null	Het
Dpy19l3	A	T	7: 35,703,501 (GRCm38)	M562K	probably damaging	Het
Dus3l	T	C	17: 56,767,868 (GRCm38)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,831,568 (GRCm38)	Q96*	probably null	Het
Egfr	T	C	11: 16,869,231 (GRCm38)	F254L	probably damaging	Het
Eml5	C	T	12: 98,798,852 (GRCm38)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,691,195 (GRCm38)	Y62*	probably null	Het
Erbb4	T	C	1: 68,343,900 (GRCm38)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,004,552 (GRCm38)		noncoding transcript	Het
H2-M9	G	T	17: 36,640,739 (GRCm38)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,689,595 (GRCm38)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,564,219 (GRCm38)	I259V	probably benign	Het
Ick	A	G	9: 78,150,654 (GRCm38)	T162A	probably damaging	Het
Insm1	A	T	2: 146,222,902 (GRCm38)	T213S	probably benign	Het
Iqca	T	C	1: 90,077,822 (GRCm38)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,406,015 (GRCm38)		probably benign	Het
Kdm7a	G	C	6: 39,152,839 (GRCm38)	L468V	possibly damaging	Het
Lck	G	A	4: 129,555,984 (GRCm38)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,787,727 (GRCm38)	L265P	probably damaging	Het
Lipa	T	A	19: 34,501,634 (GRCm38)	K229*	probably null	Het
Lrrk1	C	T	7: 66,306,873 (GRCm38)	S418N	probably benign	Het
Mark2	A	G	19: 7,281,232 (GRCm38)	V126A	probably damaging	Het
Met	T	C	6: 17,491,541 (GRCm38)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,426,799 (GRCm38)	K85M	probably damaging	Het
Mst1	A	G	9: 108,080,521 (GRCm38)	R15G	probably benign	Het
Muc6	T	G	7: 141,640,159 (GRCm38)		probably benign	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 31,998,602 (GRCm38)	S514G	probably damaging	Het
Narfl	A	T	17: 25,781,309 (GRCm38)	H322L	probably damaging	Het
Nars	T	C	18: 64,516,427 (GRCm38)	E11G	probably benign	Het
Olfr1121	T	C	2: 87,372,321 (GRCm38)	I263T	probably damaging	Het
Olfr1186	C	T	2: 88,526,225 (GRCm38)	S214F	probably damaging	Het
Olfr1238	C	T	2: 89,406,486 (GRCm38)	V198I	probably benign	Het
Olfr1272	A	G	2: 90,282,381 (GRCm38)	S65P	probably damaging	Het
Olfr584	C	T	7: 103,085,914 (GRCm38)	A127V	probably damaging	Het
Olfr825	T	A	10: 130,162,838 (GRCm38)	T163S	probably benign	Het
Olfr979	A	T	9: 40,000,422 (GRCm38)	D268E	probably damaging	Het
Otub2	T	A	12: 103,392,844 (GRCm38)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,957,012 (GRCm38)	R143G	probably benign	Het
Patl2	T	A	2: 122,125,306 (GRCm38)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,145,899 (GRCm38)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 95,004,338 (GRCm38)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,266,790 (GRCm38)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,563,959 (GRCm38)	S215L	probably benign	Het
Psmd2	T	G	16: 20,659,815 (GRCm38)		probably benign	Het
Ptpn21	T	C	12: 98,708,844 (GRCm38)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,279,497 (GRCm38)		probably null	Het
Scel	T	A	14: 103,572,037 (GRCm38)	M271K	possibly damaging	Het
Senp3	A	T	11: 69,678,829 (GRCm38)	C310*	probably null	Het
Slc25a3	T	C	10: 91,122,188 (GRCm38)	T97A	possibly damaging	Het
Srsf11	A	T	3: 158,026,732 (GRCm38)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,402,878 (GRCm38)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,648 (GRCm38)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm38)	N1471S	probably benign	Het
Tnn	T	G	1: 160,146,089 (GRCm38)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,251,286 (GRCm38)		probably benign	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,735,948 (GRCm38)		probably benign	Het
Ulk4	G	A	9: 121,073,872 (GRCm38)	Q1180*	probably null	Het
Usp43	T	A	11: 67,855,505 (GRCm38)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,194,339 (GRCm38)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,553,645 (GRCm38)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,409,963 (GRCm38)	D118G	probably damaging	Het
Vwce	A	G	19: 10,650,579 (GRCm38)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,146,154 (GRCm38)	R561L	probably benign	Het
Zfp956	T	C	6: 47,962,542 (GRCm38)	S175P	probably damaging	Het

Other mutations in Ogdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ogdh	APN	11	6,348,790 (GRCm38)	missense	probably damaging	1.00
IGL01503:Ogdh	APN	11	6,355,069 (GRCm38)	missense	probably damaging	1.00
IGL01684:Ogdh	APN	11	6,342,546 (GRCm38)	missense	probably damaging	1.00
IGL02141:Ogdh	APN	11	6,355,015 (GRCm38)	missense	probably damaging	1.00
IGL02313:Ogdh	APN	11	6,355,400 (GRCm38)	missense	probably damaging	0.98
IGL02818:Ogdh	APN	11	6,348,270 (GRCm38)	missense	probably benign
N/A - 535:Ogdh	UTSW	11	6,324,911 (GRCm38)	missense	possibly damaging	0.60
PIT4498001:Ogdh	UTSW	11	6,340,504 (GRCm38)	missense	probably benign	0.09
R0328:Ogdh	UTSW	11	6,347,216 (GRCm38)	missense	probably benign	0.01
R0505:Ogdh	UTSW	11	6,339,936 (GRCm38)	splice site	probably benign
R0627:Ogdh	UTSW	11	6,347,216 (GRCm38)	missense	possibly damaging	0.78
R1119:Ogdh	UTSW	11	6,340,544 (GRCm38)	missense	probably damaging	1.00
R1480:Ogdh	UTSW	11	6,347,827 (GRCm38)	critical splice acceptor site	probably null
R1591:Ogdh	UTSW	11	6,349,384 (GRCm38)	missense	probably damaging	1.00
R1804:Ogdh	UTSW	11	6,338,565 (GRCm38)	missense	probably damaging	1.00
R1873:Ogdh	UTSW	11	6,340,438 (GRCm38)	splice site	probably benign
R1959:Ogdh	UTSW	11	6,346,638 (GRCm38)	missense	possibly damaging	0.49
R2004:Ogdh	UTSW	11	6,334,626 (GRCm38)	missense	possibly damaging	0.90
R2080:Ogdh	UTSW	11	6,349,393 (GRCm38)	missense	probably benign	0.00
R2384:Ogdh	UTSW	11	6,342,526 (GRCm38)	missense	probably damaging	1.00
R2656:Ogdh	UTSW	11	6,348,678 (GRCm38)	missense	probably benign
R2883:Ogdh	UTSW	11	6,334,545 (GRCm38)	missense	probably damaging	1.00
R3405:Ogdh	UTSW	11	6,349,462 (GRCm38)	missense	probably damaging	1.00
R3838:Ogdh	UTSW	11	6,338,627 (GRCm38)	nonsense	probably null
R3933:Ogdh	UTSW	11	6,342,601 (GRCm38)	missense	possibly damaging	0.72
R3939:Ogdh	UTSW	11	6,350,655 (GRCm38)	nonsense	probably null
R4296:Ogdh	UTSW	11	6,349,374 (GRCm38)	missense	probably damaging	0.97
R4393:Ogdh	UTSW	11	6,316,772 (GRCm38)	missense	probably damaging	1.00
R4427:Ogdh	UTSW	11	6,355,421 (GRCm38)	missense	probably benign	0.01
R4667:Ogdh	UTSW	11	6,340,600 (GRCm38)	missense	probably benign	0.20
R4669:Ogdh	UTSW	11	6,340,600 (GRCm38)	missense	probably benign	0.20
R4728:Ogdh	UTSW	11	6,342,549 (GRCm38)	missense	probably damaging	1.00
R4785:Ogdh	UTSW	11	6,349,875 (GRCm38)	missense	probably damaging	1.00
R4796:Ogdh	UTSW	11	6,340,570 (GRCm38)	missense	probably benign	0.01
R5333:Ogdh	UTSW	11	6,352,126 (GRCm38)	missense	probably damaging	1.00
R5592:Ogdh	UTSW	11	6,316,763 (GRCm38)	splice site	probably null
R6318:Ogdh	UTSW	11	6,349,390 (GRCm38)	missense	probably damaging	0.99
R6875:Ogdh	UTSW	11	6,340,477 (GRCm38)	missense	probably benign	0.12
R6988:Ogdh	UTSW	11	6,313,806 (GRCm38)	nonsense	probably null
R7406:Ogdh	UTSW	11	6,348,351 (GRCm38)	missense	probably benign	0.00
R7724:Ogdh	UTSW	11	6,324,887 (GRCm38)	missense	probably benign
R7763:Ogdh	UTSW	11	6,338,558 (GRCm38)	missense	probably benign
R7909:Ogdh	UTSW	11	6,313,965 (GRCm38)	missense	possibly damaging	0.55
R8207:Ogdh	UTSW	11	6,349,329 (GRCm38)	missense	probably benign	0.38
R8348:Ogdh	UTSW	11	6,342,619 (GRCm38)	missense	probably damaging	0.98
R8401:Ogdh	UTSW	11	6,297,174 (GRCm38)	nonsense	probably null
R8448:Ogdh	UTSW	11	6,342,619 (GRCm38)	missense	probably damaging	0.98
R8770:Ogdh	UTSW	11	6,355,336 (GRCm38)	missense	probably damaging	1.00
R8796:Ogdh	UTSW	11	6,347,129 (GRCm38)	missense	possibly damaging	0.75
R9132:Ogdh	UTSW	11	6,340,488 (GRCm38)	missense	probably benign	0.01
R9328:Ogdh	UTSW	11	6,347,838 (GRCm38)	missense	probably benign	0.30
R9479:Ogdh	UTSW	11	6,347,854 (GRCm38)	missense	possibly damaging	0.89
R9696:Ogdh	UTSW	11	6,339,209 (GRCm38)	missense	probably damaging	1.00
Z1088:Ogdh	UTSW	11	6,355,427 (GRCm38)	missense	probably benign
Z1177:Ogdh	UTSW	11	6,316,982 (GRCm38)	missense	probably benign	0.07
Z1177:Ogdh	UTSW	11	6,297,051 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGCTAGGCTCTGAACAAGTC -3'
(R):5'- GGACTACTCTGTGAGCCTTACC -3'

Sequencing Primer
(F):5'- GCTCTGAACAAGTCATTGGC -3'
(R):5'- TGTGAGCCTTACCTTATGTACAC -3'

Posted On

2015-11-11