Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Ogdhl'

207361

Institutional Source

Beutler Lab

Gene Symbol

Ogdhl

Ensembl Gene

ENSMUSG00000021913

Gene Name

oxoglutarate dehydrogenase-like

Synonyms

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32043976-32070108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32059484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 377 (V377E)

Ref Sequence

ENSEMBL: ENSMUSP00000022480 (fasta)

Gene Model

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

AlphaFold

E9Q7L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022480
AA Change: V377E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: V377E

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: V358E

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het

Other mutations in Ogdhl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Ogdhl	APN	14	32,055,669 (GRCm39)	missense	probably damaging	1.00
IGL00425:Ogdhl	APN	14	32,068,447 (GRCm39)	missense	probably damaging	1.00
IGL01509:Ogdhl	APN	14	32,059,716 (GRCm39)	missense	probably damaging	1.00
IGL01704:Ogdhl	APN	14	32,059,588 (GRCm39)	splice site	probably benign
IGL01760:Ogdhl	APN	14	32,061,894 (GRCm39)	missense	probably damaging	1.00
IGL02376:Ogdhl	APN	14	32,065,275 (GRCm39)	missense	probably damaging	1.00
IGL02508:Ogdhl	APN	14	32,067,131 (GRCm39)	missense	probably damaging	0.99
IGL02834:Ogdhl	APN	14	32,047,903 (GRCm39)	missense	probably damaging	1.00
IGL03100:Ogdhl	APN	14	32,064,029 (GRCm39)	missense	probably benign	0.03
R0044:Ogdhl	UTSW	14	32,061,285 (GRCm39)	missense	possibly damaging	0.94
R0044:Ogdhl	UTSW	14	32,061,285 (GRCm39)	missense	possibly damaging	0.94
R0207:Ogdhl	UTSW	14	32,063,994 (GRCm39)	splice site	probably null
R0322:Ogdhl	UTSW	14	32,059,534 (GRCm39)	missense	probably benign	0.09
R0357:Ogdhl	UTSW	14	32,068,415 (GRCm39)	missense	possibly damaging	0.93
R0417:Ogdhl	UTSW	14	32,048,936 (GRCm39)	missense	probably damaging	1.00
R0677:Ogdhl	UTSW	14	32,061,882 (GRCm39)	missense	probably damaging	1.00
R1470:Ogdhl	UTSW	14	32,068,745 (GRCm39)	missense	probably damaging	1.00
R1470:Ogdhl	UTSW	14	32,068,745 (GRCm39)	missense	probably damaging	1.00
R1541:Ogdhl	UTSW	14	32,062,624 (GRCm39)	missense	possibly damaging	0.80
R1589:Ogdhl	UTSW	14	32,047,822 (GRCm39)	missense	probably benign
R2059:Ogdhl	UTSW	14	32,054,841 (GRCm39)	missense	probably damaging	1.00
R2133:Ogdhl	UTSW	14	32,047,891 (GRCm39)	missense	probably benign
R2179:Ogdhl	UTSW	14	32,057,302 (GRCm39)	missense	probably damaging	0.99
R2656:Ogdhl	UTSW	14	32,054,783 (GRCm39)	missense	possibly damaging	0.89
R3607:Ogdhl	UTSW	14	32,057,318 (GRCm39)	missense	probably damaging	1.00
R4617:Ogdhl	UTSW	14	32,047,842 (GRCm39)	missense	probably benign
R4668:Ogdhl	UTSW	14	32,054,493 (GRCm39)	missense	probably benign	0.00
R5419:Ogdhl	UTSW	14	32,061,181 (GRCm39)	missense	probably damaging	1.00
R5575:Ogdhl	UTSW	14	32,047,804 (GRCm39)	missense	possibly damaging	0.60
R5793:Ogdhl	UTSW	14	32,054,730 (GRCm39)	missense	probably damaging	0.96
R5812:Ogdhl	UTSW	14	32,054,822 (GRCm39)	missense	probably damaging	1.00
R5990:Ogdhl	UTSW	14	32,049,071 (GRCm39)	missense	possibly damaging	0.77
R6224:Ogdhl	UTSW	14	32,064,018 (GRCm39)	missense	probably benign	0.09
R7834:Ogdhl	UTSW	14	32,062,666 (GRCm39)	missense	probably benign	0.05
R7837:Ogdhl	UTSW	14	32,068,415 (GRCm39)	missense	possibly damaging	0.93
R8166:Ogdhl	UTSW	14	32,059,763 (GRCm39)	missense	probably damaging	1.00
R9573:Ogdhl	UTSW	14	32,066,678 (GRCm39)	missense	probably damaging	1.00
R9689:Ogdhl	UTSW	14	32,059,523 (GRCm39)	missense	probably damaging	1.00
R9782:Ogdhl	UTSW	14	32,061,909 (GRCm39)	missense	probably damaging	1.00
Z1177:Ogdhl	UTSW	14	32,068,368 (GRCm39)	missense	possibly damaging	0.89
Z1177:Ogdhl	UTSW	14	32,065,237 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTCTAAGAAGCCTGGCAAG -3'
(R):5'- CTGAATGGCAGGGCATAAAC -3'

Sequencing Primer
(F):5'- AAGTCGGCTCAGCATGGTCAC -3'
(R):5'- GATCTTACACCCCAGCCTGTGAAG -3'

Posted On

2014-06-23