Incidental Mutation 'R1371:Bdh1'
ID 157343
Institutional Source Beutler Lab
Gene Symbol Bdh1
Ensembl Gene ENSMUSG00000046598
Gene Name 3-hydroxybutyrate dehydrogenase, type 1
Synonyms Bdh, 2310032J20Rik
MMRRC Submission 039435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R1371 (G1)
Quality Score 217
Status Validated
Chromosome 16
Chromosomal Location 31241115-31277719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31275720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 280 (K280N)
Ref Sequence ENSEMBL: ENSMUSP00000110882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089759] [ENSMUST00000115226] [ENSMUST00000115227] [ENSMUST00000149039] [ENSMUST00000232433]
AlphaFold Q80XN0
Predicted Effect probably benign
Transcript: ENSMUST00000089759
AA Change: K280N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: K280N

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: K280N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: K280N

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: K280N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: K280N

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: ENSMUST00000126825
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 0.2729 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 89.0%
Validation Efficiency 100% (55/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,379 (GRCm39) D884V probably damaging Het
Acvr2a C T 2: 48,789,628 (GRCm39) T457M probably damaging Het
Akr1b10 C T 6: 34,369,394 (GRCm39) T208I probably benign Het
Aldh16a1 G T 7: 44,796,674 (GRCm39) T275K possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asgr1 T G 11: 69,946,923 (GRCm39) C56W probably benign Het
Atp11b T C 3: 35,860,918 (GRCm39) I335T probably damaging Het
BC061237 A G 14: 44,741,762 (GRCm39) probably benign Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Ccdc181 A G 1: 164,108,172 (GRCm39) E285G probably benign Het
Ces1f C T 8: 94,006,277 (GRCm39) G18R probably damaging Het
Cfap43 T A 19: 47,824,045 (GRCm39) I109L possibly damaging Het
Cma2 T C 14: 56,210,283 (GRCm39) L56S probably damaging Het
Edc4 A G 8: 106,617,382 (GRCm39) probably benign Het
F3 T C 3: 121,526,159 (GRCm39) C241R probably damaging Het
Fhdc1 T A 3: 84,352,310 (GRCm39) S972C probably damaging Het
Heatr1 T G 13: 12,432,513 (GRCm39) I1086R possibly damaging Het
Hsh2d A T 8: 72,950,738 (GRCm39) probably benign Het
Ice1 T C 13: 70,744,340 (GRCm39) Y2081C probably damaging Het
Il1rl1 A G 1: 40,481,873 (GRCm39) N194D probably damaging Het
Ip6k1 G A 9: 107,923,022 (GRCm39) V385M probably damaging Het
Lig1 G A 7: 13,022,611 (GRCm39) R147Q probably damaging Het
Lrp1b C T 2: 40,537,165 (GRCm39) V41I probably damaging Het
Macroh2a2 A T 10: 61,585,112 (GRCm39) D177E possibly damaging Het
Mst1r T A 9: 107,794,424 (GRCm39) V1201E probably damaging Het
Myof T C 19: 37,892,116 (GRCm39) probably benign Het
Nbas G T 12: 13,532,379 (GRCm39) probably benign Het
Ndst1 A G 18: 60,840,719 (GRCm39) I321T possibly damaging Het
Nek10 G A 14: 14,850,983 (GRCm38) G343R probably damaging Het
Or2a7 A T 6: 43,151,234 (GRCm39) T105S probably benign Het
Or2y1 T A 11: 49,385,650 (GRCm39) C97S probably damaging Het
Or4d2b A T 11: 87,780,122 (GRCm39) I200N probably damaging Het
Pde4d T C 13: 109,253,595 (GRCm39) S141P probably benign Het
Pigm A T 1: 172,204,381 (GRCm39) Q39L probably damaging Het
Prl7a2 T A 13: 27,846,750 (GRCm39) I88F probably benign Het
Prss16 T A 13: 22,192,856 (GRCm39) probably benign Het
Psmc4 G A 7: 27,742,222 (GRCm39) probably benign Het
Ptger3 T A 3: 157,273,365 (GRCm39) C237* probably null Het
Recql G A 6: 142,318,601 (GRCm39) T214M probably damaging Het
Rfx7 T A 9: 72,526,857 (GRCm39) V1349D probably damaging Het
Ros1 A G 10: 51,964,041 (GRCm39) S1740P probably damaging Het
Rrm2b A T 15: 37,947,053 (GRCm39) S83T probably benign Het
Sall4 A G 2: 168,598,394 (GRCm39) Y149H probably benign Het
Smad1 A G 8: 80,076,207 (GRCm39) probably benign Het
Snrnp70 T C 7: 45,030,129 (GRCm39) probably benign Het
Spef2 C A 15: 9,725,194 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,505,660 (GRCm39) T253A probably benign Het
Zbbx T C 3: 74,959,784 (GRCm39) Y595C possibly damaging Het
Zfp382 T C 7: 29,833,114 (GRCm39) V255A 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
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
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'- ACCATCTGAAGAGACGCTTGCTG -3'
(R):5'- ATGATCTGCATCCGAAGCCACC -3'

Sequencing Primer
(F):5'- GTCGCGTCGTTAACATCAG -3'
(R):5'- TCCGAAGCCACCAGTAGTAG -3'
Posted On 2014-02-18