Incidental Mutation 'PIT4581001:Dbi'
ID 556483
Institutional Source Beutler Lab
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: 0.249) question?
Stock # PIT4581001 (G1)
Quality Score 127.008
Status Not validated
Chromosome 1
Chromosomal Location 120041010-120048808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120047642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 85 (V85E)
Ref Sequence ENSEMBL: ENSMUSP00000114705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027634] [ENSMUST00000027637] [ENSMUST00000056038] [ENSMUST00000112644] [ENSMUST00000112648] [ENSMUST00000132118] [ENSMUST00000151708]
AlphaFold P31786
Predicted Effect probably benign
Transcript: ENSMUST00000027634
AA Change: V37E

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027634
Gene: ENSMUSG00000026385
AA Change: V37E

DomainStartEndE-ValueType
Pfam:ACBP 3 83 1.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027637
SMART Domains Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056038
SMART Domains Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112644
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112648
AA Change: V13E

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108267
Gene: ENSMUSG00000026385
AA Change: V13E

DomainStartEndE-ValueType
Pfam:ACBP 1 62 2.6e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132118
AA Change: V37E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138014
Gene: ENSMUSG00000026385
AA Change: V37E

DomainStartEndE-ValueType
Pfam:ACBP 2 70 7.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151708
AA Change: V85E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114705
Gene: ENSMUSG00000026385
AA Change: V85E

DomainStartEndE-ValueType
Pfam:ACBP 50 134 1.3e-33 PFAM
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,251,139 (GRCm39) H522R probably benign Het
Adcy8 A T 15: 64,626,666 (GRCm39) I724N probably damaging Het
Cdk2ap1rt A G 11: 48,716,971 (GRCm39) I69T possibly damaging Het
Cstdc6 T C 16: 36,143,294 (GRCm39) I52V probably benign Het
Ctsj A T 13: 61,150,370 (GRCm39) C210S probably damaging Het
Cyp2d12 A G 15: 82,442,652 (GRCm39) E365G probably damaging Het
Dhrs7b A G 11: 60,742,723 (GRCm39) I153M possibly damaging Het
Dock10 C A 1: 80,483,163 (GRCm39) C2096F probably damaging Het
Eid3 T A 10: 82,703,589 (GRCm39) I350K probably damaging Het
Fam83b A T 9: 76,398,434 (GRCm39) F890I probably damaging Het
Fras1 G A 5: 96,703,160 (GRCm39) D308N probably benign Het
Ftsj3 T C 11: 106,140,302 (GRCm39) D822G unknown Het
Gabra5 T C 7: 57,138,605 (GRCm39) T148A probably damaging Het
Gad1 A G 2: 70,430,011 (GRCm39) D526G probably benign Het
Gm21698 T A 5: 26,192,350 (GRCm39) T79S probably benign Het
Gon4l T G 3: 88,802,821 (GRCm39) V1144G probably damaging Het
Ighv1-24 A T 12: 114,736,803 (GRCm39) N32K probably benign Het
Islr T C 9: 58,064,484 (GRCm39) N341S possibly damaging Het
Mybph A G 1: 134,122,479 (GRCm39) T175A probably benign Het
Mycn T C 12: 12,990,244 (GRCm39) K51E possibly damaging Het
Myh14 T C 7: 44,262,906 (GRCm39) N1763D probably benign Het
Myrip T C 9: 120,296,583 (GRCm39) S831P probably damaging Het
Neb G T 2: 52,178,814 (GRCm39) A1314E probably damaging Het
Notch2 T C 3: 98,011,778 (GRCm39) Y599H probably damaging Het
Npr1 C A 3: 90,369,564 (GRCm39) G387V probably damaging Het
Or6e1 T A 14: 54,519,995 (GRCm39) D119V probably damaging Het
Orai2 G A 5: 136,179,364 (GRCm39) T223M probably damaging Het
Pcdhga5 A G 18: 37,829,910 (GRCm39) E786G probably benign Het
Pde6b A G 5: 108,576,374 (GRCm39) T749A probably benign Het
Pdzrn3 A G 6: 101,128,464 (GRCm39) V734A probably benign Het
Pkd1l1 GCC GCCC 11: 8,866,298 (GRCm39) probably null Het
Recql5 C A 11: 115,823,682 (GRCm39) K21N possibly damaging Het
Rimbp3 G A 16: 17,028,580 (GRCm39) S668N possibly damaging Het
Sdr42e1 A T 8: 118,390,257 (GRCm39) I128N probably damaging Het
Shprh TAAAA T 10: 11,068,238 (GRCm39) probably null Het
Slc15a2 A T 16: 36,592,405 (GRCm39) C251S probably benign Het
Slc17a4 A T 13: 24,086,001 (GRCm39) S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 (GRCm39) V246A possibly damaging Het
Slc37a2 A T 9: 37,148,701 (GRCm39) S260R probably benign Het
Slco6d1 A T 1: 98,351,050 (GRCm39) I177L possibly damaging Het
Tmcc1 A G 6: 116,020,417 (GRCm39) V345A Het
Tmod2 T C 9: 75,504,583 (GRCm39) Y12C probably damaging Het
Top2a A T 11: 98,893,790 (GRCm39) W1035R probably damaging Het
Trpc1 A G 9: 95,618,974 (GRCm39) S126P probably benign Het
Ttn A G 2: 76,564,305 (GRCm39) S28576P probably damaging Het
Vmn1r16 A T 6: 57,299,858 (GRCm39) W255R probably benign Het
Vmn2r5 T A 3: 64,411,348 (GRCm39) K407* probably null Het
Vps13b G T 15: 35,534,409 (GRCm39) W908C probably damaging Het
Ykt6 A G 11: 5,912,747 (GRCm39) K150E possibly damaging Het
Zbtb2 A G 10: 4,319,265 (GRCm39) Y254H possibly damaging Het
Zfp217 A G 2: 169,956,503 (GRCm39) S832P probably benign Het
Zfp595 A G 13: 67,465,949 (GRCm39) S108P probably benign Het
Zfp786 A T 6: 47,796,756 (GRCm39) F727L probably damaging Het
Zzef1 G A 11: 72,790,498 (GRCm39) V2151I probably benign Het
Other mutations in Dbi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Dbi APN 1 120,041,207 (GRCm39) missense probably benign 0.06
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
Predicted Primers PCR Primer
(F):5'- AGATGGTCTTTGCAGGTGAC -3'
(R):5'- CTGTAACTGCTTGAGTGGACAG -3'

Sequencing Primer
(F):5'- TGCAGGTGACAATCTCTCAG -3'
(R):5'- CCTTAGGGAATCCTGGCAAG -3'
Posted On 2019-06-07