Incidental Mutation 'R4579:Bdh1'
ID 343536
Institutional Source Beutler Lab
Gene Symbol Bdh1
Ensembl Gene ENSMUSG00000046598
Gene Name 3-hydroxybutyrate dehydrogenase, type 1
Synonyms Bdh, 2310032J20Rik
MMRRC Submission 041801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R4579 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 31241115-31277719 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 31254954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089759] [ENSMUST00000115226] [ENSMUST00000115227] [ENSMUST00000149039] [ENSMUST00000232433]
AlphaFold Q80XN0
Predicted Effect probably benign
Transcript: ENSMUST00000089759
SMART Domains Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598

DomainStartEndE-ValueType
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: ENSMUST00000128286
Predicted Effect unknown
Transcript: ENSMUST00000149039
AA Change: H12L
SMART Domains Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: H12L

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (88/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,031,848 (GRCm39) I90T probably damaging Het
Acox3 A G 5: 35,761,987 (GRCm39) N444D probably damaging Het
Adamts16 A G 13: 70,927,743 (GRCm39) Y499H probably damaging Het
Ajm1 T A 2: 25,469,661 (GRCm39) R83S possibly damaging Het
Ank2 A T 3: 126,752,612 (GRCm39) V368D probably damaging Het
Atad5 T C 11: 79,986,017 (GRCm39) V368A probably damaging Het
Atp13a5 T C 16: 29,067,090 (GRCm39) probably null Het
Bmp6 A T 13: 38,653,701 (GRCm39) Y256F probably damaging Het
Bub1b C A 2: 118,453,657 (GRCm39) S496* probably null Het
Capn15 C T 17: 26,178,811 (GRCm39) R1128H probably damaging Het
Ccnf T A 17: 24,450,303 (GRCm39) R461* probably null Het
Col6a1 C T 10: 76,547,191 (GRCm39) V725I unknown Het
Cp T C 3: 20,011,599 (GRCm39) probably null Het
Cul2 T C 18: 3,430,957 (GRCm39) V577A probably benign Het
Cux2 A T 5: 121,998,716 (GRCm39) I1408K probably benign Het
Cyp2c69 T A 19: 39,869,630 (GRCm39) T130S possibly damaging Het
Cyp3a57 A G 5: 145,311,074 (GRCm39) T278A probably benign Het
Dchs1 T G 7: 105,403,972 (GRCm39) T2857P probably damaging Het
Dchs1 A G 7: 105,408,180 (GRCm39) M1884T probably benign Het
Dnah3 T C 7: 119,608,554 (GRCm39) S1802G probably damaging Het
Dner T C 1: 84,361,537 (GRCm39) S691G probably damaging Het
Dzip1l A T 9: 99,529,267 (GRCm39) Q332L probably damaging Het
Eprs1 A G 1: 185,133,804 (GRCm39) Y827C probably damaging Het
Ermp1 A T 19: 29,594,051 (GRCm39) N706K probably damaging Het
F830045P16Rik A G 2: 129,305,423 (GRCm39) L317S probably damaging Het
Fam120c G T X: 150,219,179 (GRCm39) G696W probably damaging Het
Fance T A 17: 28,536,125 (GRCm39) probably null Het
Fancl G T 11: 26,418,423 (GRCm39) probably null Het
Fbxo30 T A 10: 11,165,293 (GRCm39) V5E probably benign Het
Foxn4 A T 5: 114,394,886 (GRCm39) I347N possibly damaging Het
Galr2 A T 11: 116,172,325 (GRCm39) D5V probably benign Het
Gm4845 T G 1: 141,184,865 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,693,532 (GRCm39) Q73L probably damaging Het
Gnpat T A 8: 125,605,241 (GRCm39) probably null Het
H2-T5 C T 17: 36,472,649 (GRCm39) probably benign Het
Hectd1 A G 12: 51,791,356 (GRCm39) M2594T probably damaging Het
Hint3 T C 10: 30,486,428 (GRCm39) H117R probably damaging Het
Hsd3b6 A G 3: 98,713,541 (GRCm39) F253L probably damaging Het
Itgal A G 7: 126,904,466 (GRCm39) D313G possibly damaging Het
Kbtbd2 A T 6: 56,755,893 (GRCm39) D614E probably damaging Het
Ksr2 A T 5: 117,894,335 (GRCm39) I825F probably damaging Het
L3mbtl4 A T 17: 69,071,635 (GRCm39) S521C probably benign Het
Lamc1 T C 1: 153,123,015 (GRCm39) N725S probably damaging Het
Med1 T G 11: 98,049,248 (GRCm39) E516A possibly damaging Het
Mical3 A T 6: 120,935,660 (GRCm39) V1622E probably benign Het
Miip G A 4: 147,945,518 (GRCm39) P373S probably damaging Het
Myo7a C A 7: 97,722,400 (GRCm39) S1175I probably damaging Het
Ndst3 A T 3: 123,340,474 (GRCm39) D781E probably benign Het
Nf1 T A 11: 79,359,583 (GRCm39) V1407E probably damaging Het
Opalin A G 19: 41,056,196 (GRCm39) L33P probably damaging Het
Or2f2 A T 6: 42,767,458 (GRCm39) I162F probably benign Het
Or2n1b G C 17: 38,460,296 (GRCm39) K272N probably damaging Het
Or4c111 T C 2: 88,843,488 (GRCm39) I307V probably benign Het
Or8b12i G T 9: 20,082,410 (GRCm39) S152R probably damaging Het
Or8k28 T C 2: 86,285,859 (GRCm39) Y252C probably damaging Het
Or8s10 A T 15: 98,335,560 (GRCm39) D70V probably damaging Het
Pcdhb2 T A 18: 37,429,168 (GRCm39) N23K probably damaging Het
Pdap1 A G 5: 145,073,691 (GRCm39) probably benign Het
Pds5b A G 5: 150,670,197 (GRCm39) E395G probably damaging Het
Pex1 C A 5: 3,668,880 (GRCm39) R624S probably benign Het
Pitrm1 G A 13: 6,608,261 (GRCm39) V329I probably benign Het
Pop1 G A 15: 34,515,970 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,190,082 (GRCm39) probably null Het
Slc38a6 G T 12: 73,335,298 (GRCm39) probably null Het
Slc5a9 T A 4: 111,750,384 (GRCm39) Y158F probably damaging Het
Spata3 T A 1: 85,954,175 (GRCm39) V114E probably damaging Het
Tbcb T A 7: 29,931,019 (GRCm39) I34F possibly damaging Het
Tek T A 4: 94,751,903 (GRCm39) Y1014* probably null Het
Togaram1 G T 12: 65,014,681 (GRCm39) C644F probably damaging Het
Trim56 A C 5: 137,142,918 (GRCm39) D199E possibly damaging Het
Tssk3 A T 4: 129,383,110 (GRCm39) D187E probably benign Het
Ttn G A 2: 76,727,147 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,025 (GRCm39) R126Q probably benign Het
Ugt1a10 T C 1: 87,983,838 (GRCm39) M212T probably benign Het
Vmn1r177 A T 7: 23,565,772 (GRCm39) F35I possibly damaging Het
Vmn1r44 T A 6: 89,870,915 (GRCm39) H77Q possibly damaging Het
Zfp1004 T A 2: 150,034,143 (GRCm39) Y186N probably damaging Het
Zfp524 G A 7: 5,021,347 (GRCm39) V292I probably benign Het
Zfp788 T G 7: 41,297,018 (GRCm39) I56S probably benign Het
Other mutations in Bdh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTAGGTTTAACTGACTGTCCTC -3'
(R):5'- TCTCCATTAGTGACGCTGGTC -3'

Sequencing Primer
(F):5'- TACAGATGGTTGTGAGCCACC -3'
(R):5'- GCTCCCTTGTTAACAGTG -3'
Posted On 2015-09-24