Incidental Mutation 'R8929:Bdh1'
ID 679767
Institutional Source Beutler Lab
Gene Symbol Bdh1
Ensembl Gene ENSMUSG00000046598
Gene Name 3-hydroxybutyrate dehydrogenase, type 1
Synonyms Bdh, 2310032J20Rik
MMRRC Submission 068773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R8929 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31241115-31277719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31275712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 278 (D278N)
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: D278N

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: D278N

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
AA Change: D278N

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: D278N

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
AA Change: D278N

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: D278N

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 probably benign
Transcript: ENSMUST00000149039
SMART Domains Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598

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 0.1356 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1 A G 2: 179,814,730 (GRCm39) K99E unknown Het
Agxt2 C A 15: 10,393,830 (GRCm39) L375I probably benign Het
Akap13 T C 7: 75,258,752 (GRCm39) S459P probably benign Het
Arfgef3 T A 10: 18,479,203 (GRCm39) T1471S probably damaging Het
Atxn2l C G 7: 126,092,928 (GRCm39) probably benign Het
Azi2 C A 9: 117,879,044 (GRCm39) T141K probably damaging Het
B4galt6 A G 18: 20,821,422 (GRCm39) S369P possibly damaging Het
BC051019 C T 7: 109,315,233 (GRCm39) E341K probably damaging Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cdipt T G 7: 126,578,825 (GRCm39) D205E probably damaging Het
Clec4b1 G T 6: 123,046,728 (GRCm39) probably null Het
Clip4 T C 17: 72,138,203 (GRCm39) L467S probably damaging Het
Cndp2 A G 18: 84,693,298 (GRCm39) I154T probably benign Het
Cyp2j5 T C 4: 96,546,977 (GRCm39) N179S possibly damaging Het
Dpf1 A T 7: 29,009,174 (GRCm39) I100F probably benign Het
Dppa5a A G 9: 78,275,165 (GRCm39) S46P probably benign Het
Epyc A G 10: 97,511,607 (GRCm39) D200G probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fndc3b C T 3: 27,596,253 (GRCm39) S112N probably damaging Het
Fras1 T C 5: 96,917,366 (GRCm39) V3462A probably damaging Het
Fstl5 T C 3: 76,615,138 (GRCm39) I733T probably damaging Het
Gdf3 C T 6: 122,586,756 (GRCm39) R57Q Het
Grwd1 A T 7: 45,480,056 (GRCm39) D50E probably damaging Het
Hgf G T 5: 16,798,988 (GRCm39) D339Y probably benign Het
Kat7 T C 11: 95,196,982 (GRCm39) D19G probably damaging Het
Lefty1 A G 1: 180,765,290 (GRCm39) E286G probably damaging Het
Lrriq3 T C 3: 154,893,819 (GRCm39) F507L probably damaging Het
Mcm4 T A 16: 15,448,289 (GRCm39) T423S probably benign Het
Metap1 T C 3: 138,174,643 (GRCm39) K247E probably benign Het
Muc4 A T 16: 32,754,017 (GRCm38) T1298S possibly damaging Het
Muc4 T G 16: 32,575,285 (GRCm39) I1290S probably benign Het
Nars1 G T 18: 64,644,895 (GRCm39) H82Q probably benign Het
Ncapg2 A T 12: 116,415,983 (GRCm39) E1121V probably damaging Het
Nebl C A 2: 17,397,991 (GRCm39) E481* probably null Het
Pdap1 T C 5: 145,069,672 (GRCm39) E111G probably damaging Het
Pds5b T C 5: 150,643,379 (GRCm39) F67S probably damaging Het
Pole T C 5: 110,445,654 (GRCm39) F510S probably damaging Het
Ptpn21 A T 12: 98,655,396 (GRCm39) Y524N probably damaging Het
Ptpn4 A T 1: 119,595,278 (GRCm39) M887K probably damaging Het
Sec24b T C 3: 129,803,507 (GRCm39) D414G possibly damaging Het
Sema5b C A 16: 35,467,737 (GRCm39) probably benign Het
Slain1 A T 14: 103,923,164 (GRCm39) T252S probably damaging Het
Slc36a3 A G 11: 55,028,137 (GRCm39) F164S probably damaging Het
Slc39a7 T C 17: 34,249,964 (GRCm39) H90R unknown Het
Slc44a4 A T 17: 35,136,508 (GRCm39) D58V probably damaging Het
Slc5a4a A G 10: 76,006,617 (GRCm39) T340A probably benign Het
Sod2 C A 17: 13,233,974 (GRCm39) N195K probably damaging Het
Spart T C 3: 55,035,979 (GRCm39) S572P possibly damaging Het
Sytl2 C T 7: 90,024,810 (GRCm39) A266V probably benign Het
Tbx15 T A 3: 99,222,219 (GRCm39) D227E probably damaging Het
Tfap2a A G 13: 40,882,308 (GRCm39) V26A probably benign Het
Trank1 T A 9: 111,208,003 (GRCm39) F1749L possibly damaging Het
Trpc6 A G 9: 8,643,411 (GRCm39) probably benign Het
Ttn A T 2: 76,706,924 (GRCm39) I9089N unknown Het
Tut7 A G 13: 59,947,942 (GRCm39) V793A probably benign Het
Unc13a T C 8: 72,103,835 (GRCm39) T866A probably benign Het
Vmn1r212 T A 13: 23,067,494 (GRCm39) S280C possibly damaging Het
Vmn2r82 A G 10: 79,232,541 (GRCm39) T847A probably benign Het
Zer1 A G 2: 30,000,881 (GRCm39) L180P probably damaging Het
Zfp445 T G 9: 122,682,732 (GRCm39) Y403S 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
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
R8857:Bdh1 UTSW 16 31,265,450 (GRCm39) missense probably benign
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'- GCCATACTGCATCACCAAGTTTG -3'
(R):5'- AGGGACCTCTTCAGCTCTTC -3'

Sequencing Primer
(F):5'- CCAAGTTTGGGATCGAGGC -3'
(R):5'- AGATCTTGTCAGAGATGGCTCCAG -3'
Posted On 2021-08-02