Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Osbp'

72577

Institutional Source

Beutler Lab

Gene Symbol

Osbp

Ensembl Gene

ENSMUSG00000024687

Gene Name

oxysterol binding protein

Synonyms

1110018F06Rik

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11943305-11971476 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 11961520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025590]

AlphaFold

Q3B7Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000025590

SMART Domains

Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687

Domain	Start	End	E-Value	Type
PH	87	181	1.21e-21	SMART
low complexity region	187	196	N/A	INTRINSIC
coiled coil region	288	324	N/A	INTRINSIC
PDB:2RR3\|B	344	377	3e-16	PDB
Pfam:Oxysterol_BP	416	791	8.8e-146	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Osbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01971:Osbp	APN	19	11,967,999 (GRCm39)	missense	probably benign	0.00
R0025:Osbp	UTSW	19	11,961,322 (GRCm39)	missense	probably damaging	1.00
R0025:Osbp	UTSW	19	11,961,322 (GRCm39)	missense	probably damaging	1.00
R0141:Osbp	UTSW	19	11,951,223 (GRCm39)	missense	possibly damaging	0.84
R1583:Osbp	UTSW	19	11,955,193 (GRCm39)	missense	probably benign	0.18
R1808:Osbp	UTSW	19	11,948,142 (GRCm39)	missense	probably damaging	1.00
R1853:Osbp	UTSW	19	11,951,255 (GRCm39)	missense	possibly damaging	0.48
R2007:Osbp	UTSW	19	11,951,265 (GRCm39)	missense	probably benign	0.31
R2291:Osbp	UTSW	19	11,951,198 (GRCm39)	nonsense	probably null
R3788:Osbp	UTSW	19	11,956,285 (GRCm39)	missense	probably benign	0.00
R4082:Osbp	UTSW	19	11,956,030 (GRCm39)	missense	probably benign
R5240:Osbp	UTSW	19	11,955,654 (GRCm39)	missense	probably damaging	1.00
R5413:Osbp	UTSW	19	11,961,855 (GRCm39)	missense	probably damaging	1.00
R5825:Osbp	UTSW	19	11,948,085 (GRCm39)	missense	probably damaging	0.98
R5907:Osbp	UTSW	19	11,951,240 (GRCm39)	missense	probably damaging	1.00
R6255:Osbp	UTSW	19	11,955,317 (GRCm39)	missense	possibly damaging	0.64
R7226:Osbp	UTSW	19	11,956,031 (GRCm39)	missense	probably benign
R7950:Osbp	UTSW	19	11,955,612 (GRCm39)	missense	probably benign	0.00
R9648:Osbp	UTSW	19	11,943,590 (GRCm39)	missense	probably damaging	1.00
X0024:Osbp	UTSW	19	11,955,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAGCTGCAAAGTGTGAGAACTC -3'
(R):5'- TTTCCTGACGCAATGTCCAGCC -3'

Sequencing Primer
(F):5'- GTGTGAGAACTCTCTAGAACAGCTC -3'
(R):5'- CTCACCTTTAAGAGATCAGGTGTG -3'

Posted On

2013-09-30