Incidental Mutation 'IGL02499:Bdh1'
ID 295951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bdh1
Ensembl Gene ENSMUSG00000046598
Gene Name 3-hydroxybutyrate dehydrogenase, type 1
Synonyms Bdh, 2310032J20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL02499
Quality Score
Status
Chromosome 16
Chromosomal Location 31241115-31277719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31256866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 5 (R5L)
Ref Sequence ENSEMBL: ENSMUSP00000156095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089759] [ENSMUST00000115226] [ENSMUST00000115227] [ENSMUST00000149039] [ENSMUST00000232433]
AlphaFold Q80XN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000089759
AA Change: R5L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: R5L

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 possibly damaging
Transcript: ENSMUST00000115226
AA Change: R5L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: R5L

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 possibly damaging
Transcript: ENSMUST00000115227
AA Change: R5L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: R5L

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 possibly damaging
Transcript: ENSMUST00000149039
AA Change: R41L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: R41L

DomainStartEndE-ValueType
Pfam:adh_short 92 263 1.3e-24 PFAM
Pfam:KR 93 264 3.2e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000232433
AA Change: R5L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Abr A T 11: 76,399,916 (GRCm39) F27Y probably benign Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cd209e T A 8: 3,904,238 (GRCm39) M6L probably benign Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kat14 A G 2: 144,235,751 (GRCm39) E161G probably benign Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mki67 A G 7: 135,296,056 (GRCm39) S2993P possibly damaging Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Sqor T A 2: 122,650,007 (GRCm39) M417K possibly damaging Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) 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
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
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
Posted On 2015-04-16