Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Dbi'

645269

Institutional Source

Beutler Lab

Gene Symbol

Dbi

Ensembl Gene

ENSMUSG00000026385

Gene Name

diazepam binding inhibitor

Synonyms

endozepine, Acbp, diazepam-binding inhibitor, EP

MMRRC Submission

067867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120041010-120048808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120048550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 32 (L32R)

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

Domain	Start	End	E-Value	Type
Pfam:ACBP	3	83	1.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000027637

SMART Domains

Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388

Domain	Start	End	E-Value	Type
Pfam:DUF2340	8	93	3.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056038

SMART Domains

Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388

Domain	Start	End	E-Value	Type
Pfam:DUF2340	8	93	3.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112644

SMART Domains

Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388

Domain	Start	End	E-Value	Type
Pfam:DUF2340	8	126	1.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112648

SMART Domains

Protein: ENSMUSP00000108267
Gene: ENSMUSG00000026385

Domain	Start	End	E-Value	Type
Pfam:ACBP	1	62	2.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132118

SMART Domains

Protein: ENSMUSP00000138014
Gene: ENSMUSG00000026385

Domain	Start	End	E-Value	Type
Pfam:ACBP	2	70	7.9e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151708
AA Change: L32R

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114705
Gene: ENSMUSG00000026385
AA Change: L32R

Domain	Start	End	E-Value	Type
Pfam:ACBP	50	134	1.3e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,561,153 (GRCm39)	I170L	probably benign	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,797,065 (GRCm39)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,578,201 (GRCm39)	F499L	probably damaging	Het
Cdhr17	G	A	5: 17,006,572 (GRCm39)	M96I	probably benign	Het
Clec12b	C	T	6: 129,357,450 (GRCm39)		probably null	Het
Col23a1	G	A	11: 51,462,083 (GRCm39)	G373D	probably damaging	Het
Cse1l	C	T	2: 166,769,505 (GRCm39)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,932,251 (GRCm39)	L330*	probably null	Het
Dennd2c	A	G	3: 103,065,025 (GRCm39)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,812 (GRCm39)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,720,709 (GRCm39)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm39)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,695,888 (GRCm39)	K457E	probably damaging	Het
Efs	A	G	14: 55,157,241 (GRCm39)	C357R	probably benign	Het
Egfr	T	A	11: 16,828,174 (GRCm39)	W516R	probably damaging	Het
Folh1	T	A	7: 86,378,326 (GRCm39)	R529*	probably null	Het
Fsip2	A	C	2: 82,818,198 (GRCm39)	I4644L	probably benign	Het
Garnl3	T	C	2: 32,975,903 (GRCm39)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,898,110 (GRCm39)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,634,221 (GRCm39)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,759,947 (GRCm39)	D54G	probably benign	Het
Irs2	C	A	8: 11,058,000 (GRCm39)	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,761,048 (GRCm39)	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,648,575 (GRCm39)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,759,507 (GRCm39)	Y69N	unknown	Het
Lcn12	A	C	2: 25,382,045 (GRCm39)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,357,850 (GRCm39)	F181L	probably damaging	Het
Med13l	T	A	5: 118,880,662 (GRCm39)	H1251Q	probably benign	Het
Nppb	C	A	4: 148,070,756 (GRCm39)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,626,373 (GRCm39)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,112,020 (GRCm39)	W300R	probably benign	Het
Or52a24	A	G	7: 103,381,150 (GRCm39)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,505,963 (GRCm39)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,162,047 (GRCm39)	H65L	probably damaging	Het
Padi6	T	C	4: 140,462,719 (GRCm39)	M301V	probably benign	Het
Pappa	G	A	4: 65,245,302 (GRCm39)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,034,277 (GRCm39)	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,281,575 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,790,816 (GRCm39)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,365,247 (GRCm39)	Y108N	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Rint1	C	G	5: 24,016,770 (GRCm39)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,446,088 (GRCm39)	F282L	probably benign	Het
Sirt5	G	T	13: 43,533,977 (GRCm39)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,154,646 (GRCm39)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,104,415 (GRCm39)	K429E	possibly damaging	Het
Spag17	T	C	3: 99,934,957 (GRCm39)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,890,050 (GRCm39)	D590V	possibly damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Sult2a6	A	G	7: 13,959,883 (GRCm39)	Y217H	probably benign	Het
Synj2	A	G	17: 6,060,060 (GRCm39)	N394S	probably damaging	Het
Telo2	A	T	17: 25,323,611 (GRCm39)	Y605*	probably null	Het
Trank1	T	A	9: 111,196,317 (GRCm39)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,141,446 (GRCm39)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,376,417 (GRCm39)	T325A	probably benign	Het
Ttn	T	A	2: 76,539,811 (GRCm39)	T34392S	probably benign	Het
Uncx	A	G	5: 139,532,571 (GRCm39)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,679,281 (GRCm39)	T4830A	probably benign	Het
Usp34	C	A	11: 23,362,345 (GRCm39)	T1616N		Het
Vars1	C	T	17: 35,234,953 (GRCm39)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,020 (GRCm39)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,917,423 (GRCm39)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,064,838 (GRCm39)	M16K	probably benign	Het
Wdr62	G	A	7: 29,962,128 (GRCm39)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,053,374 (GRCm39)	L129Q	probably benign	Het
Zfp423	T	C	8: 88,509,784 (GRCm39)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,274,702 (GRCm39)	L321Q	unknown	Het

Other mutations in Dbi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CATTCGGTTCTTCCCAGTGTGG -3'
(R):5'- GTGCTTTTAAAGGCGCTAGC -3'

Sequencing Primer
(F):5'- CCAGTGTGGGATTCAATCTTCC -3'
(R):5'- TAAAGGCGCTAGCTGGTGC -3'

Posted On

2020-09-02