Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Osbp'

272413

Institutional Source

Beutler Lab

Gene Symbol

Osbp

Ensembl Gene

ENSMUSG00000024687

Gene Name

oxysterol binding protein

Synonyms

1110018F06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11943305-11971476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11956285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 409 (Y409F)

Ref Sequence

ENSEMBL: ENSMUSP00000025590 (fasta)

Gene Model

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

AlphaFold

Q3B7Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000025590
AA Change: Y409F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: Y409F

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

0.0594

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Clnk	A	G	5: 38,872,341 (GRCm39)	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Cyth3	A	G	5: 143,622,298 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,195,754 (GRCm39)	Y392N	probably damaging	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Ndufs2	T	C	1: 171,062,889 (GRCm39)	D410G	possibly damaging	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	probably benign	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
R0764:Osbp	UTSW	19	11,961,520 (GRCm39)	splice site	probably benign
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
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'- GCAAGTTGTCACAGTCAAGG -3'
(R):5'- CCAGTTGACTTAAAGGGATGGTC -3'

Sequencing Primer
(F):5'- CGCAAGGACTTGTCTGTGAAG -3'
(R):5'- GTCTATGATTAGCTTGACCATGC -3'

Posted On

2015-03-25