Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Bdh1'

578810

Institutional Source

Beutler Lab

Gene Symbol

Bdh1

Ensembl Gene

ENSMUSG00000046598

Gene Name

3-hydroxybutyrate dehydrogenase, type 1

Synonyms

Bdh, 2310032J20Rik

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31422280-31458901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31447604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 70 (S70P)

Ref Sequence

ENSEMBL: ENSMUSP00000087192 (fasta)

Gene Model

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

AlphaFold

Q80XN0

Predicted Effect

probably benign
Transcript: ENSMUST00000089759
AA Change: S70P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: S70P

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

probably benign
Transcript: ENSMUST00000115226
AA Change: S70P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: S70P

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

probably benign
Transcript: ENSMUST00000115227
AA Change: S70P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: S70P

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

probably benign
Transcript: ENSMUST00000149039
AA Change: S106P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: S106P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741 (GRCm38)	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437 (GRCm38)		probably benign	Het
Amer3	A	G	1: 34,587,993 (GRCm38)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261 (GRCm38)		probably null	Het
Art4	G	T	6: 136,854,850 (GRCm38)	H98N	probably damaging	Het
Ccdc61	A	C	7: 18,891,105 (GRCm38)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,704,995 (GRCm38)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174 (GRCm38)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855 (GRCm38)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983 (GRCm38)		probably null	Het
Cfap77	G	T	2: 28,955,613 (GRCm38)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973 (GRCm38)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650 (GRCm38)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386 (GRCm38)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128 (GRCm38)	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407 (GRCm38)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885 (GRCm38)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416 (GRCm38)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785 (GRCm38)	N690S	probably benign	Het
Dennd4c	A	G	4: 86,774,331 (GRCm38)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Dnai3	T	C	3: 146,055,618 (GRCm38)	D661G	probably benign	Het
Eef2k	A	G	7: 120,903,484 (GRCm38)		probably null	Het
Ephb2	C	T	4: 136,659,065 (GRCm38)	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983 (GRCm38)	Y22C	probably benign	Het
F5	C	T	1: 164,193,328 (GRCm38)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471 (GRCm38)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432 (GRCm38)	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569 (GRCm38)	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207 (GRCm38)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779 (GRCm38)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616 (GRCm38)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849 (GRCm38)	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420 (GRCm38)		probably benign	Het
Ippk	T	C	13: 49,432,467 (GRCm38)		probably null	Het
Klc4	T	A	17: 46,639,910 (GRCm38)	I258F	probably benign	Het
Manba	C	A	3: 135,542,393 (GRCm38)	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789 (GRCm38)	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892 (GRCm38)	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986 (GRCm38)	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220 (GRCm38)	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147 (GRCm38)	W834*	probably null	Het
Olfr285	T	C	15: 98,313,380 (GRCm38)	M57V	probably damaging	Het
Or10q3	T	A	19: 11,870,316 (GRCm38)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,822,922 (GRCm38)	C182*	probably null	Het
Or5w1	T	C	2: 87,656,396 (GRCm38)	N175S	possibly damaging	Het
Pam	A	T	1: 97,842,247 (GRCm38)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884 (GRCm38)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm38)	Y195*	probably null	Het
Plcl2	A	G	17: 50,608,468 (GRCm38)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157 (GRCm38)	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438 (GRCm38)	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844 (GRCm38)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602 (GRCm38)	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467 (GRCm38)	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057 (GRCm38)	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008 (GRCm38)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484 (GRCm38)		probably null	Het
Rfc1	A	T	5: 65,275,426 (GRCm38)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957 (GRCm38)	D351G	probably benign	Het
Scart1	T	C	7: 140,220,706 (GRCm38)		probably null	Het
Serpinb9g	T	C	13: 33,495,167 (GRCm38)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266 (GRCm38)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404 (GRCm38)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502 (GRCm38)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239 (GRCm38)	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346 (GRCm38)	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901 (GRCm38)	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772 (GRCm38)	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186 (GRCm38)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563 (GRCm38)	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758 (GRCm38)	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885 (GRCm38)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,709,480 (GRCm38)	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582 (GRCm38)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511 (GRCm38)	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773 (GRCm38)	V482I	probably benign	Het
Zer1	T	C	2: 30,101,484 (GRCm38)		probably null	Het
Zfp503	T	C	14: 21,986,011 (GRCm38)	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762 (GRCm38)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,287,807 (GRCm38)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531 (GRCm38)	V459A	probably damaging	Het

Other mutations in Bdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Bdh1	APN	16	31,456,843 (GRCm38)	missense	probably damaging	0.98
IGL01569:Bdh1	APN	16	31,455,091 (GRCm38)	missense	probably benign	0.13
IGL02065:Bdh1	APN	16	31,449,936 (GRCm38)	missense	possibly damaging	0.89
IGL02499:Bdh1	APN	16	31,438,048 (GRCm38)	missense	possibly damaging	0.91
IGL02654:Bdh1	APN	16	31,456,615 (GRCm38)	splice site	probably benign
R0092:Bdh1	UTSW	16	31,447,562 (GRCm38)	nonsense	probably null
R1371:Bdh1	UTSW	16	31,456,902 (GRCm38)	missense	probably benign	0.00
R4579:Bdh1	UTSW	16	31,436,136 (GRCm38)	intron	probably benign
R4774:Bdh1	UTSW	16	31,455,136 (GRCm38)	missense	possibly damaging	0.82
R4857:Bdh1	UTSW	16	31,447,548 (GRCm38)	splice site	probably null
R5435:Bdh1	UTSW	16	31,456,657 (GRCm38)	missense	probably damaging	0.96
R5436:Bdh1	UTSW	16	31,456,657 (GRCm38)	missense	probably damaging	0.96
R5588:Bdh1	UTSW	16	31,438,119 (GRCm38)	critical splice donor site	probably null
R6190:Bdh1	UTSW	16	31,449,897 (GRCm38)	missense	probably damaging	1.00
R6976:Bdh1	UTSW	16	31,438,029 (GRCm38)	missense	probably benign	0.01
R7725:Bdh1	UTSW	16	31,438,092 (GRCm38)	missense	not run
R8857:Bdh1	UTSW	16	31,446,632 (GRCm38)	missense	probably benign
R8929:Bdh1	UTSW	16	31,456,894 (GRCm38)	missense	probably benign	0.31
R9539:Bdh1	UTSW	16	31,455,096 (GRCm38)	missense	probably benign	0.29
R9740:Bdh1	UTSW	16	31,438,035 (GRCm38)	missense	possibly damaging	0.65
Z1177:Bdh1	UTSW	16	31,455,177 (GRCm38)	missense	possibly damaging	0.81
Z1177:Bdh1	UTSW	16	31,455,175 (GRCm38)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TCTGAGTCTCAGTGTACCTTGG -3'
(R):5'- CAGCTACATAGAGCAAATGAGACTG -3'

Sequencing Primer
(F):5'- ACCTTGGTACTTGTGGTTCTCTAGAC -3'
(R):5'- TACATAGAGCAAATGAGACTGAAGTG -3'

Posted On

2019-10-07