Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT1430001:D2hgdh'

499817

Institutional Source

Beutler Lab

Gene Symbol

D2hgdh

Ensembl Gene

ENSMUSG00000073609

Gene Name

D-2-hydroxyglutarate dehydrogenase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

PIT1430001 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

93752631-93780070 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 93754001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027505] [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000187321] [ENSMUST00000188532] [ENSMUST00000189154] [ENSMUST00000188402]

AlphaFold

Q8CIM3

Predicted Effect

probably benign
Transcript: ENSMUST00000027505

SMART Domains

Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283

Domain	Start	End	E-Value	Type
Pfam:ING	6	107	1.6e-34	PFAM
low complexity region	129	150	N/A	INTRINSIC
PHD	188	233	7.34e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097633

SMART Domains

Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_4	114	253	2.7e-35	PFAM
Pfam:FAD-oxidase_C	289	530	7.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112881

SMART Domains

Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:FAD_binding_4	136	275	7e-36	PFAM
Pfam:FAD-oxidase_C	311	552	4.1e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149397

Predicted Effect

probably benign
Transcript: ENSMUST00000186783

Predicted Effect

probably benign
Transcript: ENSMUST00000187321

Predicted Effect

probably benign
Transcript: ENSMUST00000188532

Predicted Effect

probably benign
Transcript: ENSMUST00000189154

SMART Domains

Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_4	114	179	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188402

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (136/137)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,207,160 (GRCm39)	I524F	possibly damaging	Het
4930511M06Rik	T	C	18: 57,517,241 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,711 (GRCm39)	N361K	probably damaging	Het
Adgra2	A	G	8: 27,604,216 (GRCm39)	M469V	possibly damaging	Het
Akap9	A	G	5: 4,079,849 (GRCm39)	D1867G	probably damaging	Het
Ankrd17	T	C	5: 90,400,832 (GRCm39)	T1687A	possibly damaging	Het
Ap1m2	G	A	9: 21,209,548 (GRCm39)	P376L	probably damaging	Het
Bicc1	A	G	10: 70,793,511 (GRCm39)	S196P	possibly damaging	Het
Cacnb2	C	T	2: 14,976,412 (GRCm39)	R228*	probably null	Het
Ccdc43	A	G	11: 102,582,976 (GRCm39)	S83P	probably damaging	Het
Cdc42bpg	T	A	19: 6,372,582 (GRCm39)		probably null	Het
Cdh16	C	A	8: 105,344,271 (GRCm39)	M89I	probably benign	Het
Cecr2	A	C	6: 120,735,440 (GRCm39)	H892P	probably benign	Het
Chd5	T	A	4: 152,455,094 (GRCm39)	S859T	probably damaging	Het
Chrd	G	A	16: 20,557,748 (GRCm39)		probably null	Het
Chrna2	T	A	14: 66,387,186 (GRCm39)	L444Q	probably benign	Het
Ckap4	A	G	10: 84,363,630 (GRCm39)	S478P	probably damaging	Het
Cldn4	A	T	5: 134,975,514 (GRCm39)	M29K	possibly damaging	Het
Clpb	T	C	7: 101,435,926 (GRCm39)	V615A	possibly damaging	Het
Cyb5r4	G	A	9: 86,920,791 (GRCm39)	G142E	probably benign	Het
Cyp1a1	A	G	9: 57,608,194 (GRCm39)	Y274C	probably benign	Het
Dgkh	T	A	14: 78,818,953 (GRCm39)	E919V	probably damaging	Het
Dnah1	A	G	14: 30,984,537 (GRCm39)	Y3916H	probably damaging	Het
Dpp10	A	G	1: 123,268,911 (GRCm39)		probably benign	Het
Dync2i2	T	C	2: 29,922,147 (GRCm39)	Y438C	probably damaging	Het
Egfr	A	G	11: 16,860,214 (GRCm39)	T1043A	probably benign	Het
Elp5	T	G	11: 69,857,935 (GRCm39)		probably null	Het
Emilin3	A	T	2: 160,750,402 (GRCm39)	M449K	possibly damaging	Het
Epb41l4a	T	G	18: 33,930,400 (GRCm39)	T686P	probably damaging	Het
Eppk1	A	G	15: 76,105,236 (GRCm38)	C2482R	probably benign	Het
Eps8l3	T	C	3: 107,792,183 (GRCm39)	L370P	probably damaging	Het
Erbin	A	T	13: 103,996,017 (GRCm39)	S228R	probably damaging	Het
Fam149a	C	T	8: 45,804,743 (GRCm39)	E280K	probably benign	Het
Fam78b	T	C	1: 166,829,313 (GRCm39)	I60T	probably benign	Het
Fank1	A	T	7: 133,478,529 (GRCm39)	R197*	probably null	Het
Fbxo21	C	T	5: 118,115,931 (GRCm39)	S83F	possibly damaging	Het
Fbxo4	G	C	15: 4,008,782 (GRCm39)	T42R	probably benign	Het
Fhad1	C	G	4: 141,637,060 (GRCm39)	E1135D	probably damaging	Het
Fmo1	T	A	1: 162,657,622 (GRCm39)	E506D	probably benign	Het
Glipr1l2	A	T	10: 111,942,745 (GRCm39)	T231S	probably benign	Het
Gm11651	C	G	11: 105,863,917 (GRCm39)		probably benign	Het
Gm16043	A	G	6: 8,426,969 (GRCm39)		probably null	Het
Gm572	T	G	4: 148,755,850 (GRCm39)	W389G	unknown	Het
Gpc6	G	A	14: 118,188,594 (GRCm39)	W409*	probably null	Het
Gpr155	T	C	2: 73,200,482 (GRCm39)	T342A	probably benign	Het
Hcn4	A	C	9: 58,766,833 (GRCm39)	H798P	unknown	Het
Herc2	T	C	7: 55,876,702 (GRCm39)	S4513P	probably damaging	Het
Hmcn1	G	A	1: 150,684,488 (GRCm39)	R361C	probably benign	Het
Hoxa4	G	T	6: 52,168,199 (GRCm39)	P157Q	possibly damaging	Het
Ift122	A	C	6: 115,902,705 (GRCm39)		probably benign	Het
Igfbpl1	G	A	4: 45,826,756 (GRCm39)	S13L	unknown	Het
Igsf10	T	C	3: 59,235,579 (GRCm39)	D1534G	probably benign	Het
Il1rap	T	G	16: 26,529,343 (GRCm39)	L339V	possibly damaging	Het
Irf2bpl	C	T	12: 86,930,229 (GRCm39)	R148H	possibly damaging	Het
Ivns1abp	A	T	1: 151,237,356 (GRCm39)	R58W	probably damaging	Het
Kcnq5	C	T	1: 21,605,405 (GRCm39)	V167M	probably damaging	Het
Lrrcc1	G	A	3: 14,610,656 (GRCm39)	C337Y	probably damaging	Het
Lrriq3	A	G	3: 154,804,507 (GRCm39)	I56V	probably benign	Het
Masp1	C	A	16: 23,332,694 (GRCm39)	S47I	probably damaging	Het
Mcm7	A	T	5: 138,165,708 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,530,840 (GRCm39)	S210R	probably damaging	Het
Mical1	A	G	10: 41,359,492 (GRCm39)	R500G	possibly damaging	Het
Mtarc1	T	G	1: 184,539,246 (GRCm39)	T37P	probably benign	Het
Myc	A	C	15: 61,859,542 (GRCm39)	T73P	probably damaging	Het
Myh15	G	A	16: 49,017,254 (GRCm39)		probably null	Het
Myh4	A	G	11: 67,149,658 (GRCm39)	M1768V	probably benign	Het
Nap1l1	T	C	10: 111,322,597 (GRCm39)	Y66H	probably damaging	Het
Ncoa1	C	T	12: 4,373,005 (GRCm39)	R132K	probably benign	Het
Nfatc3	C	T	8: 106,786,605 (GRCm39)	S28F	possibly damaging	Het
Nhlrc3	T	A	3: 53,361,050 (GRCm39)	K235M	probably damaging	Het
Nrk	G	A	X: 137,879,463 (GRCm39)	E757K	probably damaging	Het
Obsl1	G	A	1: 75,482,811 (GRCm39)	P20S	probably damaging	Het
P2rx7	C	T	5: 122,819,279 (GRCm39)	A567V	probably damaging	Het
Pate9	A	T	9: 36,446,295 (GRCm39)	L39*	probably null	Het
Pcdhb15	G	A	18: 37,608,724 (GRCm39)	R652H	probably benign	Het
Pcdhga4	T	C	18: 37,819,267 (GRCm39)	V272A	probably benign	Het
Pcdhgb1	T	G	18: 37,814,472 (GRCm39)	V321G	probably damaging	Het
Pde2a	C	G	7: 101,100,684 (GRCm39)		probably benign	Het
Pdhb	C	T	14: 8,170,425 (GRCm38)	E109K	probably damaging	Het
Pkd1	C	A	17: 24,788,485 (GRCm39)	L748M	probably damaging	Het
Pkd2	A	T	5: 104,607,654 (GRCm39)	E51V	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Polr3gl	C	G	3: 96,488,228 (GRCm39)		probably benign	Het
Ppfia1	A	T	7: 144,052,073 (GRCm39)	L882Q	probably damaging	Het
Ppp4r3b	G	T	11: 29,159,434 (GRCm39)	R596L	probably benign	Het
Ppp6r3	G	A	19: 3,521,059 (GRCm39)	Q85*	probably null	Het
Prss8	A	G	7: 127,521,424 (GRCm39)		probably benign	Het
Qng1	T	A	13: 58,532,827 (GRCm39)	K48*	probably null	Het
Rab22a	A	G	2: 173,536,963 (GRCm39)	I87V	probably benign	Het
Rev1	A	C	1: 38,095,337 (GRCm39)		probably benign	Het
Rnase13	A	G	14: 52,159,987 (GRCm39)	Y51H	probably damaging	Het
Rnf26	T	C	9: 44,023,942 (GRCm39)	H102R	probably damaging	Het
Rnf5	T	C	17: 34,822,341 (GRCm39)	E36G	probably damaging	Het
Rplp1	T	G	9: 61,821,658 (GRCm39)	D18A	probably benign	Het
Rrs1	C	A	1: 9,616,150 (GRCm39)	D134E	probably damaging	Het
Sec14l1	A	G	11: 117,034,629 (GRCm39)	Y166C	probably damaging	Het
Sec14l2	A	T	11: 4,059,209 (GRCm39)	Y153*	probably null	Het
Senp1	A	G	15: 97,982,870 (GRCm39)	L39P	probably damaging	Het
Senp2	T	A	16: 21,832,864 (GRCm39)		probably benign	Het
Sh3bp1	G	A	15: 78,798,224 (GRCm39)	A19T	probably benign	Het
Sis	G	A	3: 72,830,162 (GRCm39)	P1130S	probably damaging	Het
Slc16a12	C	T	19: 34,654,759 (GRCm39)	A95T	possibly damaging	Het
Slc22a4	A	G	11: 53,918,783 (GRCm39)	V7A	probably benign	Het
Slc35c2	C	T	2: 165,119,452 (GRCm39)	S296N	probably benign	Het
Slf1	A	G	13: 77,198,169 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,859 (GRCm39)	V616E	possibly damaging	Het
Smarca2	T	A	19: 26,626,493 (GRCm39)	M439K	probably benign	Het
Snx29	G	A	16: 11,221,488 (GRCm39)	A305T	probably benign	Het
Socs5	C	T	17: 87,441,044 (GRCm39)		probably benign	Het
Spata31d1a	G	T	13: 59,849,010 (GRCm39)	H1039Q	probably benign	Het
Srgap1	G	A	10: 121,732,658 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,761,396 (GRCm39)	I650N	probably damaging	Het
Tac4	A	C	11: 95,158,190 (GRCm39)		probably benign	Het
Tbck	A	C	3: 132,428,487 (GRCm39)	T281P	probably benign	Het
Tbx22	T	C	X: 106,720,611 (GRCm39)	L62P	probably damaging	Het
Terf2	G	C	8: 107,822,934 (GRCm39)	R70G	probably damaging	Het
Tfdp1	C	T	8: 13,422,526 (GRCm39)	P138S	probably benign	Het
Tigd2	T	C	6: 59,188,233 (GRCm39)	Y367H	probably damaging	Het
Tmprss15	A	T	16: 78,821,640 (GRCm39)		probably null	Het
Tmprss6	C	T	15: 78,324,827 (GRCm39)	G741D	probably damaging	Het
Tnrc6b	A	C	15: 80,813,387 (GRCm39)	T1715P	probably damaging	Het
Tpcn1	T	C	5: 120,686,388 (GRCm39)		probably benign	Het
Trappc2l	T	C	8: 123,339,874 (GRCm39)	S35P	probably damaging	Het
Trim63	T	C	4: 134,048,484 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,074,454 (GRCm39)	D602E	probably damaging	Het
Trp53bp1	G	A	2: 121,101,756 (GRCm39)	P2S	probably damaging	Het
Tspan14	A	G	14: 40,637,488 (GRCm39)	L100P	probably damaging	Het
Tspan15	C	T	10: 62,023,899 (GRCm39)	E260K	probably damaging	Het
Ubxn10	T	C	4: 138,448,199 (GRCm39)	D159G	probably benign	Het
Unc5a	T	G	13: 55,151,709 (GRCm39)	V713G	probably damaging	Het
Usp16	C	T	16: 87,270,020 (GRCm39)	A324V	probably damaging	Het
Uvssa	G	A	5: 33,559,914 (GRCm39)	R422Q	possibly damaging	Het
Wipf1	A	C	2: 73,267,946 (GRCm39)	F151V	probably damaging	Het
Xpo1	A	T	11: 23,226,437 (GRCm39)	K104N	possibly damaging	Het
Ybx3	T	C	6: 131,356,422 (GRCm39)	T150A	probably damaging	Het
Yju2	C	T	17: 56,271,479 (GRCm39)		probably benign	Het
Zap70	T	A	1: 36,818,250 (GRCm39)	S312R	possibly damaging	Het
Zfp534	T	G	4: 147,759,880 (GRCm39)	K263T	probably benign	Het
Zfp534	T	G	4: 147,759,917 (GRCm39)	N251H	probably benign	Het

Other mutations in D2hgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:D2hgdh	APN	1	93,757,611 (GRCm39)	missense	probably benign	0.06
IGL02506:D2hgdh	APN	1	93,757,507 (GRCm39)	missense	probably damaging	0.98
IGL02995:D2hgdh	APN	1	93,757,558 (GRCm39)	missense	probably damaging	1.00
PIT4418001:D2hgdh	UTSW	1	93,766,590 (GRCm39)	missense	possibly damaging	0.90
R0069:D2hgdh	UTSW	1	93,763,009 (GRCm39)	missense	possibly damaging	0.93
R0080:D2hgdh	UTSW	1	93,754,177 (GRCm39)	missense	probably damaging	0.97
R0538:D2hgdh	UTSW	1	93,754,099 (GRCm39)	missense	probably damaging	0.97
R2267:D2hgdh	UTSW	1	93,763,157 (GRCm39)	missense	probably damaging	0.97
R2268:D2hgdh	UTSW	1	93,763,157 (GRCm39)	missense	probably damaging	0.97
R2269:D2hgdh	UTSW	1	93,763,157 (GRCm39)	missense	probably damaging	0.97
R4419:D2hgdh	UTSW	1	93,757,535 (GRCm39)	missense	probably damaging	1.00
R5322:D2hgdh	UTSW	1	93,757,620 (GRCm39)	critical splice donor site	probably null
R6018:D2hgdh	UTSW	1	93,754,182 (GRCm39)	missense	probably benign	0.03
R6264:D2hgdh	UTSW	1	93,754,177 (GRCm39)	missense	probably damaging	0.97
R6750:D2hgdh	UTSW	1	93,754,129 (GRCm39)	missense	probably benign	0.01
R6814:D2hgdh	UTSW	1	93,763,025 (GRCm39)	missense	possibly damaging	0.94
R7058:D2hgdh	UTSW	1	93,763,096 (GRCm39)	missense	probably damaging	1.00
R7473:D2hgdh	UTSW	1	93,765,800 (GRCm39)	missense	probably damaging	0.96
R7683:D2hgdh	UTSW	1	93,766,687 (GRCm39)	critical splice donor site	probably null
R9151:D2hgdh	UTSW	1	93,754,338 (GRCm39)	missense	probably benign	0.08

Predicted Primers

Posted On

2017-11-21