Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Ogdhl'

29905

Institutional Source

Beutler Lab

Gene Symbol

Ogdhl

Ensembl Gene

ENSMUSG00000021913

Gene Name

oxoglutarate dehydrogenase-like

Synonyms

MMRRC Submission

038563-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32322019-32348151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32346458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 884 (V884A)

Ref Sequence

ENSEMBL: ENSMUSP00000154185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022480] [ENSMUST00000228529]

AlphaFold

E9Q7L0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022480
AA Change: V903A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: V903A

Domain	Start	End	E-Value	Type
Pfam:2-oxogl_dehyd_N	44	81	2.7e-18	PFAM
Blast:Transket_pyr	118	154	8e-14	BLAST
Pfam:E1_dh	262	588	1.8e-88	PFAM
Transket_pyr	657	870	2.64e-51	SMART
Pfam:OxoGdeHyase_C	874	1019	8.3e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228529
AA Change: V884A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.5667

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
AI837181	C	T	19: 5,426,703	T298I	possibly damaging	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Cyp4f13	A	T	17: 32,932,651	Y125*	probably null	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,840	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Mtus1	A	T	8: 41,083,526	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp110	A	G	7: 12,836,375	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,124,379	T55A	probably benign	Het

Other mutations in Ogdhl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Ogdhl	APN	14	32333712	missense	probably damaging	1.00
IGL00425:Ogdhl	APN	14	32346490	missense	probably damaging	1.00
IGL01509:Ogdhl	APN	14	32337759	missense	probably damaging	1.00
IGL01704:Ogdhl	APN	14	32337631	splice site	probably benign
IGL01760:Ogdhl	APN	14	32339937	missense	probably damaging	1.00
IGL02376:Ogdhl	APN	14	32343318	missense	probably damaging	1.00
IGL02508:Ogdhl	APN	14	32345174	missense	probably damaging	0.99
IGL02834:Ogdhl	APN	14	32325946	missense	probably damaging	1.00
IGL03100:Ogdhl	APN	14	32342072	missense	probably benign	0.03
R0044:Ogdhl	UTSW	14	32339328	missense	possibly damaging	0.94
R0044:Ogdhl	UTSW	14	32339328	missense	possibly damaging	0.94
R0207:Ogdhl	UTSW	14	32342037	splice site	probably null
R0322:Ogdhl	UTSW	14	32337577	missense	probably benign	0.09
R0417:Ogdhl	UTSW	14	32326979	missense	probably damaging	1.00
R0677:Ogdhl	UTSW	14	32339925	missense	probably damaging	1.00
R1470:Ogdhl	UTSW	14	32346788	missense	probably damaging	1.00
R1470:Ogdhl	UTSW	14	32346788	missense	probably damaging	1.00
R1541:Ogdhl	UTSW	14	32340667	missense	possibly damaging	0.80
R1589:Ogdhl	UTSW	14	32325865	missense	probably benign
R1831:Ogdhl	UTSW	14	32337527	missense	probably damaging	0.99
R2059:Ogdhl	UTSW	14	32332884	missense	probably damaging	1.00
R2133:Ogdhl	UTSW	14	32325934	missense	probably benign
R2179:Ogdhl	UTSW	14	32335345	missense	probably damaging	0.99
R2656:Ogdhl	UTSW	14	32332826	missense	possibly damaging	0.89
R3607:Ogdhl	UTSW	14	32335361	missense	probably damaging	1.00
R4617:Ogdhl	UTSW	14	32325885	missense	probably benign
R4668:Ogdhl	UTSW	14	32332536	missense	probably benign	0.00
R5419:Ogdhl	UTSW	14	32339224	missense	probably damaging	1.00
R5575:Ogdhl	UTSW	14	32325847	missense	possibly damaging	0.60
R5793:Ogdhl	UTSW	14	32332773	missense	probably damaging	0.96
R5812:Ogdhl	UTSW	14	32332865	missense	probably damaging	1.00
R5990:Ogdhl	UTSW	14	32327114	missense	possibly damaging	0.77
R6224:Ogdhl	UTSW	14	32342061	missense	probably benign	0.09
R7834:Ogdhl	UTSW	14	32340709	missense	probably benign	0.05
R7837:Ogdhl	UTSW	14	32346458	missense	possibly damaging	0.93
R8166:Ogdhl	UTSW	14	32337806	missense	probably damaging	1.00
R9573:Ogdhl	UTSW	14	32344721	missense	probably damaging	1.00
R9689:Ogdhl	UTSW	14	32337566	missense	probably damaging	1.00
R9782:Ogdhl	UTSW	14	32339952	missense	probably damaging	1.00
Z1177:Ogdhl	UTSW	14	32343280	missense	probably damaging	1.00
Z1177:Ogdhl	UTSW	14	32346411	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCCATCTTTGGGATCAAAAGCCGTC -3'
(R):5'- TGCCAGGATCAAGAACCAGTGCAG -3'

Sequencing Primer
(F):5'- CTTTGGGATCAAAAGCCGTCTAATG -3'
(R):5'- GACTGATGTAGTCGTAATAGCCC -3'

Posted On

2013-04-24