Incidental Mutation 'IGL01092:Dbi'
ID 50242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbi
Ensembl Gene ENSMUSG00000026385
Gene Name diazepam binding inhibitor
Synonyms endozepine, Acbp, diazepam-binding inhibitor, EP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # IGL01092
Quality Score
Status
Chromosome 1
Chromosomal Location 120041010-120048808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120041207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 131 (K131E)
Ref Sequence ENSEMBL: ENSMUSP00000114705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027634] [ENSMUST00000112648] [ENSMUST00000132118] [ENSMUST00000151708]
AlphaFold P31786
Predicted Effect probably benign
Transcript: ENSMUST00000027634
AA Change: K83E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027634
Gene: ENSMUSG00000026385
AA Change: K83E

DomainStartEndE-ValueType
Pfam:ACBP 3 83 1.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112648
AA Change: K59E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108267
Gene: ENSMUSG00000026385
AA Change: K59E

DomainStartEndE-ValueType
Pfam:ACBP 1 62 2.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128408
Predicted Effect probably benign
Transcript: ENSMUST00000132118
SMART Domains Protein: ENSMUSP00000138014
Gene: ENSMUSG00000026385

DomainStartEndE-ValueType
Pfam:ACBP 2 70 7.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135937
Predicted Effect probably benign
Transcript: ENSMUST00000151708
AA Change: K131E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114705
Gene: ENSMUSG00000026385
AA Change: K131E

DomainStartEndE-ValueType
Pfam:ACBP 50 134 1.3e-33 PFAM
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 diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal fur and skin morphology at P16 and impaired metabolic changes at weaning with reduced growth and hepatic cholesterol synthesis. Mice homozygous for a different knock-out allele complete exhibit embryonic lethality around implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,229,371 (GRCm39) R335G probably damaging Het
Atad2b C T 12: 5,067,987 (GRCm39) S995L probably damaging Het
Atrn A T 2: 130,789,556 (GRCm39) R340* probably null Het
Ccdc83 A T 7: 89,896,313 (GRCm39) D85E probably benign Het
Chd2 A T 7: 73,091,434 (GRCm39) H1602Q possibly damaging Het
Cog2 A G 8: 125,272,019 (GRCm39) D511G probably damaging Het
Col4a4 G T 1: 82,444,266 (GRCm39) P1334T unknown Het
Creb3l4 T C 3: 90,145,045 (GRCm39) E369G probably damaging Het
Crnkl1 T C 2: 145,761,868 (GRCm39) K563R probably benign Het
Edn1 A G 13: 42,457,147 (GRCm39) D60G probably damaging Het
Erbin T C 13: 103,970,520 (GRCm39) N1032S probably damaging Het
Ero1a T C 14: 45,541,043 (GRCm39) D107G probably benign Het
Glmn A T 5: 107,726,378 (GRCm39) probably null Het
Grxcr1 T C 5: 68,267,905 (GRCm39) probably benign Het
Itih3 T A 14: 30,631,738 (GRCm39) K593I probably damaging Het
Kmt2b T C 7: 30,279,932 (GRCm39) Y1356C probably damaging Het
Lrp1b C T 2: 40,640,959 (GRCm39) C3495Y probably damaging Het
Map3k13 A T 16: 21,746,766 (GRCm39) T950S probably damaging Het
Me1 A T 9: 86,480,801 (GRCm39) V348D probably damaging Het
Morc2a T C 11: 3,634,042 (GRCm39) V718A probably benign Het
Myh7 T C 14: 55,209,089 (GRCm39) E1883G possibly damaging Het
Or10ak14 T A 4: 118,610,959 (GRCm39) I259F possibly damaging Het
Or8b49 T G 9: 38,506,201 (GRCm39) I228R probably damaging Het
Pdcd6ip A G 9: 113,509,249 (GRCm39) probably benign Het
Plcb3 T A 19: 6,932,690 (GRCm39) E1025V probably benign Het
Ppp1r26 C T 2: 28,343,872 (GRCm39) probably benign Het
Prkd1 T C 12: 50,430,298 (GRCm39) probably benign Het
Rwdd4a C T 8: 47,997,147 (GRCm39) T122M possibly damaging Het
Sdhb T G 4: 140,704,791 (GRCm39) C251G probably damaging Het
Siglec1 A T 2: 130,921,137 (GRCm39) I678N probably damaging Het
Snrnp70 T C 7: 45,026,801 (GRCm39) D215G probably damaging Het
Ston1 A G 17: 88,951,871 (GRCm39) E674G probably benign Het
Tbl3 T C 17: 24,920,879 (GRCm39) probably benign Het
Tbl3 A T 17: 24,924,226 (GRCm39) I177N probably damaging Het
Tnrc6c T C 11: 117,612,811 (GRCm39) V483A probably damaging Het
Other mutations in Dbi
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4581001:Dbi UTSW 1 120,047,642 (GRCm39) missense probably damaging 0.96
R2964:Dbi UTSW 1 120,047,846 (GRCm39) intron probably benign
R4483:Dbi UTSW 1 120,048,535 (GRCm39) missense probably benign 0.00
R5935:Dbi UTSW 1 120,048,583 (GRCm39) missense probably benign 0.41
R7357:Dbi UTSW 1 120,047,623 (GRCm39) critical splice donor site probably null
R8347:Dbi UTSW 1 120,048,550 (GRCm39) missense possibly damaging 0.50
Posted On 2013-06-21