Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Ogdhl'

481971

Institutional Source

Beutler Lab

Gene Symbol

Ogdhl

Ensembl Gene

ENSMUSG00000021913

Gene Name

oxoglutarate dehydrogenase-like

Synonyms

MMRRC Submission

044170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32322019-32348151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32327114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 114 (H114Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022480 (fasta)

Gene Model

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

AlphaFold

E9Q7L0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022480
AA Change: H114Y

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: H114Y

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

noncoding transcript
Transcript: ENSMUST00000228286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228529
AA Change: H114Y

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.2992

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	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
R0357:Ogdhl	UTSW	14	32346458	missense	possibly damaging	0.93
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
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'- ACACTGAATGCTTTAGGGATCCC -3'
(R):5'- GCAAGATGACAACAGTGCCG -3'

Sequencing Primer
(F):5'- GAATGCTTTAGGGATCCCAGCTC -3'
(R):5'- TGACAACAGTGCCGAGAAAC -3'

Posted On

2017-06-26