Incidental Mutation 'R5588:Bdh1'
ID 438917
Institutional Source Beutler Lab
Gene Symbol Bdh1
Ensembl Gene ENSMUSG00000046598
Gene Name 3-hydroxybutyrate dehydrogenase, type 1
Synonyms Bdh, 2310032J20Rik
MMRRC Submission 043268-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R5588 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31241115-31277719 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 31256937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089759] [ENSMUST00000115226] [ENSMUST00000115227] [ENSMUST00000149039] [ENSMUST00000232433]
AlphaFold Q80XN0
Predicted Effect probably null
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 null
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 null
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 probably null
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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
4930407I10Rik C A 15: 81,949,417 (GRCm39) Q1105K possibly damaging Het
Afg3l2 A T 18: 67,573,277 (GRCm39) V175D possibly damaging Het
Aldh1a2 G A 9: 71,190,732 (GRCm39) R325H probably damaging Het
Arhgef18 T A 8: 3,438,878 (GRCm39) probably benign Het
Atp8a1 A G 5: 67,972,027 (GRCm39) L43P probably damaging Het
Ccdc85c T C 12: 108,177,793 (GRCm39) Y320C probably damaging Het
Cobl A T 11: 12,293,886 (GRCm39) L290* probably null Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Dhx34 T C 7: 15,932,825 (GRCm39) H1038R probably damaging Het
Eea1 T C 10: 95,859,772 (GRCm39) V686A probably benign Het
Eif2b4 A T 5: 31,349,517 (GRCm39) C101* probably null Het
Eif4a3 A C 11: 119,186,952 (GRCm39) S84A probably benign Het
Elfn2 T C 15: 78,558,076 (GRCm39) D157G probably damaging Het
Fat2 T A 11: 55,173,103 (GRCm39) I2537F probably damaging Het
Fbxo38 A G 18: 62,659,248 (GRCm39) F350L probably damaging Het
Fgd3 A T 13: 49,440,786 (GRCm39) L215Q probably damaging Het
Fhdc1 A G 3: 84,372,783 (GRCm39) V73A possibly damaging Het
Gapvd1 T A 2: 34,599,166 (GRCm39) T690S probably damaging Het
Gask1a C T 9: 121,794,247 (GRCm39) Q134* probably null Het
Gm14418 A T 2: 177,079,065 (GRCm39) I310K probably benign Het
Gm5141 A T 13: 62,921,584 (GRCm39) N528K probably benign Het
Gsap A C 5: 21,456,147 (GRCm39) E417A probably damaging Het
Kcnab1 A C 3: 65,283,976 (GRCm39) D398A possibly damaging Het
Kif5b T G 18: 6,225,787 (GRCm39) N160T probably benign Het
Lilrb4b G A 10: 51,357,422 (GRCm39) R86Q probably benign Het
Lmo7 T C 14: 102,134,026 (GRCm39) probably null Het
Mlph T C 1: 90,859,321 (GRCm39) S219P possibly damaging Het
Ncapg2 T C 12: 116,376,697 (GRCm39) I95T possibly damaging Het
Nedd9 A T 13: 41,469,437 (GRCm39) I572N possibly damaging Het
Nup155 G A 15: 8,148,737 (GRCm39) probably null Het
Olfml2a T C 2: 38,850,047 (GRCm39) S588P probably damaging Het
Or4a68 T C 2: 89,269,760 (GRCm39) R288G probably damaging Het
Or4c12 T A 2: 89,774,136 (GRCm39) T108S probably benign Het
Or6c1 T G 10: 129,517,705 (GRCm39) N301T possibly damaging Het
Parva C A 7: 112,159,269 (GRCm39) N142K possibly damaging Het
Pclo T A 5: 14,838,412 (GRCm39) S4678R unknown Het
Pcnt T C 10: 76,278,445 (GRCm39) D3G possibly damaging Het
Pdzd2 A C 15: 12,374,367 (GRCm39) S1923A possibly damaging Het
Per1 G A 11: 68,998,453 (GRCm39) G1055D probably damaging Het
Phf8-ps G A 17: 33,285,249 (GRCm39) Q518* probably null Het
Plb1 G A 5: 32,487,293 (GRCm39) probably null Het
Ppp1r14a C T 7: 28,992,709 (GRCm39) P137L probably damaging Het
Rfx2 A T 17: 57,086,890 (GRCm39) S612T possibly damaging Het
Rtel1 T C 2: 180,993,893 (GRCm39) F642L probably benign Het
Sec14l3 T C 11: 4,016,138 (GRCm39) F19S probably damaging Het
Skint8 A T 4: 111,794,089 (GRCm39) M160L probably benign Het
Slc19a3 G T 1: 83,000,776 (GRCm39) Y80* probably null Het
Slc37a1 T A 17: 31,565,431 (GRCm39) W489R probably damaging Het
Smc4 A G 3: 68,933,190 (GRCm39) I604V probably benign Het
Srprb G T 9: 103,076,048 (GRCm39) Y796* probably null Het
Tdrd7 T A 4: 45,992,225 (GRCm39) S220T probably benign Het
Tex15 T C 8: 34,067,215 (GRCm39) F2215S probably damaging Het
Ticrr C T 7: 79,328,853 (GRCm39) A664V probably damaging Het
Tnc T G 4: 63,924,659 (GRCm39) D1013A possibly damaging Het
Tpte T A 8: 22,774,983 (GRCm39) Y18N possibly damaging Het
Ubqlnl T A 7: 103,798,339 (GRCm39) Q386L probably damaging Het
Vmn1r194 T C 13: 22,428,512 (GRCm39) V43A possibly damaging Het
Vmn2r130 A T 17: 23,282,803 (GRCm39) Q161L probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zfhx4 T G 3: 5,468,198 (GRCm39) D2785E probably damaging 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
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'- AGCTGGGCCTAGTTGGTTAAC -3'
(R):5'- ACTAGTAACCATGTGTACACTAGG -3'

Sequencing Primer
(F):5'- GGCTGTTCTTGACTAAAACTCCCAAG -3'
(R):5'- CTAGGAAAGTGCTCTATCCCTGAG -3'
Posted On 2016-10-26