Incidental Mutation 'R2964:Dbi'
ID 255953
Institutional Source Beutler Lab
Gene Symbol Dbi
Ensembl Gene ENSMUSG00000026385
Gene Name diazepam binding inhibitor
Synonyms endozepine, Acbp, diazepam-binding inhibitor, EP
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R2964 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120041010-120048808 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 120047846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000027634
Gene: ENSMUSG00000026385

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
SMART Domains Protein: ENSMUSP00000108267
Gene: ENSMUSG00000026385

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 noncoding transcript
Transcript: ENSMUST00000149628
Predicted Effect probably benign
Transcript: ENSMUST00000151708
SMART Domains Protein: ENSMUSP00000114705
Gene: ENSMUSG00000026385

DomainStartEndE-ValueType
Pfam:ACBP 50 134 1.3e-33 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Hrh4 T C 18: 13,155,426 (GRCm39) C322R probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pigr G A 1: 130,769,272 (GRCm39) V28M probably damaging Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign Het
Other mutations in Dbi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Dbi APN 1 120,041,207 (GRCm39) missense probably benign 0.06
PIT4581001:Dbi UTSW 1 120,047,642 (GRCm39) missense probably damaging 0.96
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'- ACCTGTATTTACATCGCCCACAG -3'
(R):5'- TCTCCGCTGATCATAGGTCG -3'

Sequencing Primer
(F):5'- CCCACAGTAGCTTGTTTGAAGTGAC -3'
(R):5'- ATCATAGGTCGGGCTTTACTGGAAC -3'
Posted On 2014-12-29