Mutagenetix > Incidental Mutation

Incidental Mutation 'R7725:Bdh1'

595465

Institutional Source

Beutler Lab

Gene Symbol

Bdh1

Ensembl Gene

ENSMUSG00000046598

Gene Name

3-hydroxybutyrate dehydrogenase, type 1

Synonyms

Bdh, 2310032J20Rik

MMRRC Submission

045781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31241115-31277719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31256910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 20 (V20I)

Ref Sequence

ENSEMBL: ENSMUSP00000087192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089759]

AlphaFold

Q80XN0

Predicted Effect

not run
Transcript: ENSMUST00000089759
AA Change: V20I

SMART Domains

Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: V20I

Domain	Start	End	E-Value	Type
Pfam:adh_short	56	227	1.5e-24	PFAM
Pfam:KR	57	239	1.9e-7	PFAM
Pfam:adh_short_C2	62	270	4.7e-9	PFAM
Pfam:DUF1776	69	318	4.3e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	A	T	9: 69,387,410 (GRCm39)	K6N	unknown	Het
Arhgap20	T	A	9: 51,743,050 (GRCm39)	M296K	possibly damaging	Het
Bop1	A	G	15: 76,339,583 (GRCm39)	I254T	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cct4	A	G	11: 22,940,814 (GRCm39)	K21E	probably benign	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,546,853 (GRCm39)	Y238*	probably null	Het
Col19a1	A	T	1: 24,309,525 (GRCm39)	S1043T	possibly damaging	Het
Ctcf	A	G	8: 106,390,468 (GRCm39)	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,704,330 (GRCm39)	R282C	probably benign	Het
Eef1g	T	A	19: 8,955,427 (GRCm39)	H425Q	probably benign	Het
Fam131b	C	T	6: 42,295,476 (GRCm39)	A234T	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam187b	A	G	7: 30,677,139 (GRCm39)	D216G	possibly damaging	Het
Gabra1	A	T	11: 42,026,270 (GRCm39)	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,739,659 (GRCm39)		probably null	Het
Gm3667	T	A	14: 18,271,599 (GRCm39)	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,242,118 (GRCm39)	R242H	probably damaging	Het
Gulo	T	C	14: 66,245,522 (GRCm39)	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,358,680 (GRCm39)	E49V	unknown	Het
Htra4	A	G	8: 25,527,169 (GRCm39)	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,489,196 (GRCm39)	S22P	probably benign	Het
Lypd8l	A	T	11: 58,499,325 (GRCm39)	N164K	probably benign	Het
Med12l	A	G	3: 59,163,413 (GRCm39)	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,284,788 (GRCm39)	D592E	probably benign	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Ncor2	A	G	5: 125,100,630 (GRCm39)	V1316A		Het
Odad1	T	A	7: 45,597,835 (GRCm39)	S582T	probably damaging	Het
Or2t43	A	G	11: 58,457,593 (GRCm39)	Y193H	probably damaging	Het
Or2y10	A	T	11: 49,455,359 (GRCm39)	I204L	probably benign	Het
Or5t16	T	C	2: 86,819,323 (GRCm39)	I66V	probably benign	Het
Serpina6	A	T	12: 103,614,936 (GRCm39)	Y303*	probably null	Het
Shld2	T	G	14: 33,990,661 (GRCm39)	T82P	possibly damaging	Het
Shroom3	T	C	5: 93,089,512 (GRCm39)	L754P	probably benign	Het
Skint5	C	A	4: 113,685,099 (GRCm39)	L539F	unknown	Het
St3gal4	C	A	9: 34,964,375 (GRCm39)	R209L	possibly damaging	Het
Tex14	A	C	11: 87,385,868 (GRCm39)	T243P	probably damaging	Het
Ttc12	T	A	9: 49,351,602 (GRCm39)	M632L	probably benign	Het
Ttn	T	C	2: 76,738,116 (GRCm39)	E4187G	unknown	Het
Txk	G	A	5: 72,864,900 (GRCm39)	A379V	probably damaging	Het
Wdr43	A	G	17: 71,923,338 (GRCm39)	Y28C	probably benign	Het
Zfp1005	A	G	2: 150,110,468 (GRCm39)	Y386C	unknown	Het
Zfp40	A	G	17: 23,397,251 (GRCm39)	V82A	probably benign	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	Het

Other mutations in Bdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Bdh1	APN	16	31,275,661 (GRCm39)	missense	probably damaging	0.98
IGL01569:Bdh1	APN	16	31,273,909 (GRCm39)	missense	probably benign	0.13
IGL02065:Bdh1	APN	16	31,268,754 (GRCm39)	missense	possibly damaging	0.89
IGL02499:Bdh1	APN	16	31,256,866 (GRCm39)	missense	possibly damaging	0.91
IGL02654:Bdh1	APN	16	31,275,433 (GRCm39)	splice site	probably benign
R0092:Bdh1	UTSW	16	31,266,380 (GRCm39)	nonsense	probably null
R1371:Bdh1	UTSW	16	31,275,720 (GRCm39)	missense	probably benign	0.00
R4579:Bdh1	UTSW	16	31,254,954 (GRCm39)	intron	probably benign
R4774:Bdh1	UTSW	16	31,273,954 (GRCm39)	missense	possibly damaging	0.82
R4857:Bdh1	UTSW	16	31,266,366 (GRCm39)	splice site	probably null
R5435:Bdh1	UTSW	16	31,275,475 (GRCm39)	missense	probably damaging	0.96
R5436:Bdh1	UTSW	16	31,275,475 (GRCm39)	missense	probably damaging	0.96
R5588:Bdh1	UTSW	16	31,256,937 (GRCm39)	critical splice donor site	probably null
R6190:Bdh1	UTSW	16	31,268,715 (GRCm39)	missense	probably damaging	1.00
R6976:Bdh1	UTSW	16	31,256,847 (GRCm39)	missense	probably benign	0.01
R7466:Bdh1	UTSW	16	31,266,422 (GRCm39)	missense	probably benign	0.04
R8857:Bdh1	UTSW	16	31,265,450 (GRCm39)	missense	probably benign
R8929:Bdh1	UTSW	16	31,275,712 (GRCm39)	missense	probably benign	0.31
R9539:Bdh1	UTSW	16	31,273,914 (GRCm39)	missense	probably benign	0.29
R9740:Bdh1	UTSW	16	31,256,853 (GRCm39)	missense	possibly damaging	0.65
Z1177:Bdh1	UTSW	16	31,273,995 (GRCm39)	missense	possibly damaging	0.81
Z1177:Bdh1	UTSW	16	31,273,993 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

Posted On

2019-11-12