Mutagenetix > Incidental Mutation

Incidental Mutation 'R8857:Bdh1'

675438

Institutional Source

Beutler Lab

Gene Symbol

Bdh1

Ensembl Gene

ENSMUSG00000046598

Gene Name

3-hydroxybutyrate dehydrogenase, type 1

Synonyms

Bdh, 2310032J20Rik

MMRRC Submission

068677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R8857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31241115-31277719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31265450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 42 (T42S)

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: T42S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: T42S

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: T42S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: T42S

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: T42S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: T42S

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: T78S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: T78S

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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,119,287 (GRCm39)	L266F	possibly damaging	Het
Adgrf3	A	T	5: 30,402,065 (GRCm39)	C654*	probably null	Het
Adgrl1	C	A	8: 84,657,657 (GRCm39)	A421D	probably benign	Het
Adra1b	C	G	11: 43,727,092 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,399,939 (GRCm39)	V710E	possibly damaging	Het
Arhgef5	T	C	6: 43,264,558 (GRCm39)	V1523A	probably damaging	Het
AW551984	G	C	9: 39,511,831 (GRCm39)	A60G	probably damaging	Het
C130073F10Rik	G	A	4: 101,747,555 (GRCm39)	P158L	possibly damaging	Het
Cacna2d4	A	T	6: 119,248,909 (GRCm39)	K457*	probably null	Het
Chd3	G	A	11: 69,253,146 (GRCm39)	P223L	probably benign	Het
Cnst	T	C	1: 179,437,878 (GRCm39)	S481P	probably damaging	Het
Col6a3	T	A	1: 90,703,485 (GRCm39)	K3027N	unknown	Het
Csf2rb2	T	C	15: 78,178,613 (GRCm39)	D111G	probably null	Het
Disc1	A	C	8: 125,891,870 (GRCm39)	E641A	probably damaging	Het
Fbln5	C	A	12: 101,726,990 (GRCm39)	C320F	probably damaging	Het
Fbn2	G	A	18: 58,286,933 (GRCm39)	T242I	probably damaging	Het
Frem1	T	A	4: 82,922,280 (GRCm39)		probably benign	Het
Gpsm1	G	C	2: 26,230,457 (GRCm39)	G469A	possibly damaging	Het
Hic1	A	G	11: 75,056,228 (GRCm39)	I887T	probably benign	Het
Hltf	T	C	3: 20,159,825 (GRCm39)	V692A	probably damaging	Het
Hsd17b13	A	G	5: 104,125,063 (GRCm39)	L40P	probably damaging	Het
Hydin	T	C	8: 111,298,587 (GRCm39)		probably null	Het
Irf2bpl	T	C	12: 86,929,359 (GRCm39)	Y438C	possibly damaging	Het
Itgb4	A	T	11: 115,871,853 (GRCm39)	N219I	probably benign	Het
Knop1	T	C	7: 118,451,949 (GRCm39)	K257E		Het
Krtap19-5	A	T	16: 88,693,139 (GRCm39)	F58I	unknown	Het
L3mbtl2	T	A	15: 81,571,320 (GRCm39)	F709L	unknown	Het
Map1a	G	A	2: 121,138,098 (GRCm39)	R2924H	probably damaging	Het
Mfsd13a	A	G	19: 46,356,567 (GRCm39)	D224G	probably benign	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Morc2a	T	A	11: 3,627,484 (GRCm39)		probably null	Het
Mptx2	T	C	1: 173,102,452 (GRCm39)	E79G	probably benign	Het
Nutm1	A	G	2: 112,081,523 (GRCm39)	M380T	probably benign	Het
Or5ac25	A	T	16: 59,182,041 (GRCm39)	I180N	probably damaging	Het
P2rx1	A	G	11: 72,903,197 (GRCm39)		probably benign	Het
Padi4	A	G	4: 140,501,472 (GRCm39)	I7T	probably damaging	Het
Phf20l1	T	C	15: 66,513,781 (GRCm39)	S1013P	probably benign	Het
Plb1	T	C	5: 32,521,556 (GRCm39)	V1469A	unknown	Het
Polr1g	C	T	7: 19,093,355 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,158,147 (GRCm39)	N150D	probably damaging	Het
Qsox1	A	G	1: 155,658,333 (GRCm39)	V412A	possibly damaging	Het
Rai1	A	G	11: 60,077,393 (GRCm39)	S486G	probably benign	Het
Rev3l	T	A	10: 39,670,965 (GRCm39)	Y170*	probably null	Het
Rims2	T	A	15: 39,543,044 (GRCm39)	M1426K	possibly damaging	Het
Selenoi	C	A	5: 30,461,160 (GRCm39)	S132*	probably null	Het
Shtn1	T	C	19: 58,978,800 (GRCm39)	I498M	probably damaging	Het
Sin3b	T	C	8: 73,483,523 (GRCm39)	M970T	probably benign	Het
Slc17a8	A	G	10: 89,427,022 (GRCm39)	F360L	probably damaging	Het
Slc7a11	A	G	3: 50,393,305 (GRCm39)	Y113H	probably damaging	Het
Spast	T	A	17: 74,675,938 (GRCm39)	M327K	possibly damaging	Het
Sphkap	T	A	1: 83,258,288 (GRCm39)	I152F	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tiam1	A	T	16: 89,662,145 (GRCm39)	S658T	probably damaging	Het
Tmem174	G	T	13: 98,773,433 (GRCm39)	H132Q	probably damaging	Het
Tnfrsf10b	G	A	14: 70,012,543 (GRCm39)	V117I	probably benign	Het
Tnr	A	G	1: 159,713,728 (GRCm39)	T719A	probably benign	Het
Tomm34	G	A	2: 163,896,379 (GRCm39)	P292S	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,615 (GRCm39)	F88Y	probably damaging	Het
Trp63	A	T	16: 25,639,226 (GRCm39)	H138L	probably damaging	Het
U2af2	T	A	7: 5,065,290 (GRCm39)	S2T	probably damaging	Het
Uroc1	T	C	6: 90,334,510 (GRCm39)	V574A	possibly damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp488	A	C	14: 33,692,760 (GRCm39)	S134R	probably benign	Het
Zfp950	T	C	19: 61,116,001 (GRCm39)	D2G	probably benign	Het
Zfyve1	T	A	12: 83,598,374 (GRCm39)	H618L	probably damaging	Het
Zp1	T	G	19: 10,893,888 (GRCm39)	D439A	probably 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
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
R7725:Bdh1	UTSW	16	31,256,910 (GRCm39)	missense	not run
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'- CTATATGCAGCAGGAGCAGTC -3'
(R):5'- TTCCCAGTAGGCATCTTACAAGC -3'

Sequencing Primer
(F):5'- AGCAGGAGCAGTCCCCAG -3'
(R):5'- AGTAGGCATCTTACAAGCTCCCTG -3'

Posted On

2021-07-15