Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Bdh1'

428293

Institutional Source

Beutler Lab

Gene Symbol

Bdh1

Ensembl Gene

ENSMUSG00000046598

Gene Name

3-hydroxybutyrate dehydrogenase, type 1

Synonyms

Bdh, 2310032J20Rik

MMRRC Submission

043000-MU

Accession Numbers

Essential gene?

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

Stock #

R5435 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

31241115-31277719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31275475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 235 (R235C)

Ref Sequence

ENSEMBL: ENSMUSP00000119164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089759] [ENSMUST00000115226] [ENSMUST00000115227] [ENSMUST00000149039] [ENSMUST00000232433]

AlphaFold

Q80XN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089759
AA Change: R199C

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: R199C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115226
AA Change: R199C

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: R199C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115227
AA Change: R199C

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: R199C

Domain	Start	End	E-Value	Type
Pfam:adh_short	56	253	3.7e-43	PFAM
Pfam:KR	57	237	7.9e-9	PFAM
Pfam:adh_short_C2	62	272	1.1e-8	PFAM
Pfam:DUF1776	69	318	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126825

Predicted Effect

probably damaging
Transcript: ENSMUST00000149039
AA Change: R235C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: R235C

Domain	Start	End	E-Value	Type
Pfam:adh_short	92	263	1.3e-24	PFAM
Pfam:KR	93	264	3.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232433

Meta Mutation Damage Score

0.5030

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	possibly damaging	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
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
R7725:Bdh1	UTSW	16	31,256,910 (GRCm39)	missense	not run
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

PCR Primer
(F):5'- TTAGTTGGGTGTTACCTAGTCCAC -3'
(R):5'- CACATCTTCTTGGCGATGGC -3'

Sequencing Primer
(F):5'- TAGTCCACTGTCCTGCTGGG -3'
(R):5'- ATGGCCTGGATGCGCTC -3'

Posted On

2016-09-01