Mutagenetix > Incidental Mutations

Incidental Mutation 'R5419:Ogdhl'

427947

Institutional Source

Beutler Lab

Gene Symbol

Ogdhl

Ensembl Gene

ENSMUSG00000021913

Gene Name

oxoglutarate dehydrogenase-like

Synonyms

MMRRC Submission

042987-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32322019-32348151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32339224 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 457 (D457E)

Ref Sequence

ENSEMBL: ENSMUSP00000022480 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022480
AA Change: D457E

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

SMART Domains

Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: D457E

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: D438E

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,272,090	L926*	probably null	Het
4931429L15Rik	C	T	9: 46,309,326		probably null	Het
Abca13	T	A	11: 9,193,533		probably null	Het
AI481877	A	T	4: 59,049,017	M1116K	probably benign	Het
Akap13	A	T	7: 75,610,243	T69S	probably benign	Het
Arl1	T	A	10: 88,737,104	C80S	probably damaging	Het
Brsk1	A	G	7: 4,709,004	T618A	possibly damaging	Het
Cep295	T	C	9: 15,324,237	H1982R	probably damaging	Het
Ces5a	A	T	8: 93,499,431	S559T	unknown	Het
Clcf1	A	G	19: 4,222,159	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Cobll1	A	T	2: 65,103,357	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,682,511	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,681,423	R126*	probably null	Het
Daam2	A	G	17: 49,480,754	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,455,258	C446S	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Eif2d	T	C	1: 131,158,298	*177R	probably null	Het
Fkbp15	G	A	4: 62,327,877	A438V	probably damaging	Het
Gjb5	G	A	4: 127,355,859	A164V	probably benign	Het
Gm17727	T	A	9: 35,778,111		probably null	Het
Gm5724	C	T	6: 141,736,100		probably null	Het
Grin1	A	T	2: 25,298,273		probably null	Het
Grm3	A	G	5: 9,570,233	F337S	probably damaging	Het
Hey2	T	A	10: 30,834,023	T245S	probably benign	Het
Ifi206	T	C	1: 173,481,231	T400A	probably benign	Het
Itga7	G	A	10: 128,944,033	E480K	probably null	Het
Itpr1	T	C	6: 108,493,794	Y2227H	possibly damaging	Het
Krt8	T	C	15: 102,003,902	D113G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lins1	A	G	7: 66,708,095		probably benign	Het
Lmf1	A	T	17: 25,662,636	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,566,730	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,730,704	C3587*	probably null	Het
Macf1	A	T	4: 123,397,124	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Myg1	A	T	15: 102,336,962	N206I	probably damaging	Het
Myl12a	T	G	17: 70,994,699	R144S	probably benign	Het
Myo5a	T	A	9: 75,147,897	I454K	probably damaging	Het
Nwd2	A	G	5: 63,807,708	D1545G	probably benign	Het
Olfr202	T	A	16: 59,284,341	D52V	probably damaging	Het
Olfr466	A	C	13: 65,152,774	L183F	probably damaging	Het
Paf1	A	G	7: 28,395,670	I112V	possibly damaging	Het
Pcdhga4	C	T	18: 37,686,745	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,237,222	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,184,647	I676F	probably damaging	Het
Rev3l	T	C	10: 39,824,931	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,313,129	S868P	probably damaging	Het
Slc47a2	A	G	11: 61,307,586	F428L	probably benign	Het
Slco3a1	A	T	7: 74,284,615	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,909,893	C65*	probably null	Het
Ssu72	T	C	4: 155,715,550	F57L	probably damaging	Het
Tanc2	A	G	11: 105,922,883	T1718A	probably benign	Het
Tnks	G	C	8: 34,965,566	P34A	unknown	Het
Top3a	G	A	11: 60,762,522	T42I	probably damaging	Het
Trank1	T	C	9: 111,391,301	S2369P	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,183,183	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,059,358	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,856,310	F129S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTGTCACCGTATGTCTAG -3'
(R):5'- GCAGGAATAAGCCATCTACTCC -3'

Sequencing Primer
(F):5'- TGTCACCGTATGTCTAGCCTAAAAC -3'
(R):5'- TGCCCTGGCCTCAGTCAG -3'

Posted On

2016-09-01