Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Ogdhl'

296433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ogdhl

Ensembl Gene

ENSMUSG00000021913

Gene Name

oxoglutarate dehydrogenase-like

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

32043976-32070108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32067131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 861 (M861R)

Ref Sequence

ENSEMBL: ENSMUSP00000154185 (fasta)

Gene Model

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

AlphaFold

E9Q7L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022480
AA Change: M880R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: M880R

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

probably damaging
Transcript: ENSMUST00000228529
AA Change: M861R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

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
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly 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
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
R1831:Ogdhl	UTSW	14	32,059,484 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16