Incidental Mutation 'R4483:Dbi'
ID 331485
Institutional Source Beutler Lab
Gene Symbol Dbi
Ensembl Gene ENSMUSG00000026385
Gene Name diazepam binding inhibitor
Synonyms Acbp, diazepam-binding inhibitor, EP, endozepine
MMRRC Submission 041739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4483 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120113280-120121078 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120120805 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 37 (I37K)
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

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

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

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

Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112648
SMART Domains Protein: ENSMUSP00000108267
Gene: ENSMUSG00000026385

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

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
AA Change: I37K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114705
Gene: ENSMUSG00000026385
AA Change: I37K

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: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (36/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,419,230 G5275S probably benign Het
Akap11 A G 14: 78,510,259 S1563P probably damaging Het
Ankrd50 A G 3: 38,457,531 V229A probably damaging Het
AW112010 A G 19: 11,050,393 noncoding transcript Het
Ccdc158 A G 5: 92,633,328 S873P probably benign Het
Cep350 A G 1: 155,926,468 V1104A probably benign Het
Chil4 G A 3: 106,214,362 A57V probably damaging Het
Cpa5 A G 6: 30,624,626 E155G probably damaging Het
Ctsq T C 13: 61,038,912 I93V probably benign Het
Defa35 T C 8: 21,065,192 S43P probably damaging Het
Fance T A 17: 28,315,807 probably benign Het
Fbxl6 A G 15: 76,537,929 L180P probably damaging Het
Fkbpl T C 17: 34,646,295 F346L probably damaging Het
Gm11735 C A 11: 116,741,275 noncoding transcript Het
Gm28042 T C 2: 120,035,840 I373T possibly damaging Het
Golga4 T C 9: 118,514,186 S27P probably damaging Het
Gstm1 C T 3: 108,016,518 probably null Het
Lama3 T A 18: 12,549,253 I1092K probably benign Het
Med15 A T 16: 17,671,564 probably benign Het
Nlrp6 A G 7: 140,921,781 D87G probably damaging Het
Parp11 A G 6: 127,471,605 T62A probably benign Het
Pcnt A G 10: 76,401,483 L1323S probably damaging Het
Ppp2r1a C T 17: 20,955,810 T98I probably benign Het
Pramef6 T A 4: 143,895,840 Y315F probably damaging Het
Prl7a2 T A 13: 27,660,947 H152L possibly damaging Het
Rnf145 T C 11: 44,564,277 S662P probably benign Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Tnfaip3 A T 10: 19,011,627 M50K probably damaging Het
Txlnb T TTA 10: 17,838,997 probably null Het
Usp9x A G X: 13,121,448 D638G possibly damaging Het
Vmn1r30 A T 6: 58,435,133 V238E probably damaging Het
Zfp507 A G 7: 35,787,716 probably null Het
Zfp532 G T 18: 65,656,565 W1025L probably benign Het
Other mutations in Dbi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Dbi APN 1 120113477 missense probably benign 0.06
PIT4581001:Dbi UTSW 1 120119912 missense probably damaging 0.96
R2964:Dbi UTSW 1 120120116 intron probably benign
R5935:Dbi UTSW 1 120120853 missense probably benign 0.41
R7357:Dbi UTSW 1 120119893 critical splice donor site probably null
R8347:Dbi UTSW 1 120120820 missense possibly damaging 0.50
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21