Mutagenetix > Incidental Mutation

Incidental Mutation 'R5413:Osbp'

427615

Institutional Source

Beutler Lab

Gene Symbol

Osbp

Ensembl Gene

ENSMUSG00000024687

Gene Name

oxysterol binding protein

Synonyms

1110018F06Rik

MMRRC Submission

042982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11943305-11971476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11961855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 551 (Y551H)

Ref Sequence

ENSEMBL: ENSMUSP00000025590 (fasta)

Gene Model

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

AlphaFold

Q3B7Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025590
AA Change: Y551H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: Y551H

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,911,204 (GRCm39)	T410S	possibly damaging	Het
Adamts3	A	G	5: 89,856,626 (GRCm39)	S316P	probably damaging	Het
Angptl3	A	T	4: 98,919,259 (GRCm39)	L6F	probably benign	Het
Clint1	T	C	11: 45,777,307 (GRCm39)	V98A	probably damaging	Het
Clk2	A	G	3: 89,080,785 (GRCm39)	N258S	probably benign	Het
Col18a1	T	C	10: 76,905,310 (GRCm39)	D723G	probably damaging	Het
Csmd3	A	T	15: 47,701,831 (GRCm39)	W1751R	probably damaging	Het
Daam1	C	A	12: 71,993,066 (GRCm39)	L352M	unknown	Het
Dennd2a	A	T	6: 39,441,227 (GRCm39)	F964I	probably damaging	Het
Dock5	A	G	14: 68,002,104 (GRCm39)	L1622P	probably damaging	Het
Dpy19l4	A	G	4: 11,289,700 (GRCm39)	L195P	probably damaging	Het
Esp24	A	C	17: 39,350,893 (GRCm39)	E31A	possibly damaging	Het
Fars2	T	A	13: 36,388,545 (GRCm39)	Y11*	probably null	Het
Fbxl16	C	A	17: 26,035,817 (GRCm39)	T138K	possibly damaging	Het
Frmpd1	A	G	4: 45,249,196 (GRCm39)	I129V	probably benign	Het
Gria1	A	G	11: 57,108,620 (GRCm39)	N241S	probably benign	Het
Homer1	A	G	13: 93,528,287 (GRCm39)	E274G	probably benign	Het
Igdcc3	T	C	9: 65,084,797 (GRCm39)	V189A	possibly damaging	Het
Igkv12-98	A	G	6: 68,548,078 (GRCm39)	Y68C	possibly damaging	Het
Igkv3-3	G	C	6: 70,664,414 (GRCm39)	R85S	probably damaging	Het
Ldha	A	G	7: 46,500,320 (GRCm39)	T144A	possibly damaging	Het
Lrp1	A	G	10: 127,423,936 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Or14c44	A	G	7: 86,061,675 (GRCm39)	Y35C	probably benign	Het
Or2n1d	G	T	17: 38,646,515 (GRCm39)	A156S	probably benign	Het
Or2y1b	A	T	11: 49,209,240 (GRCm39)	Y289F	probably damaging	Het
Or6b13	A	T	7: 139,782,635 (GRCm39)	V16E	possibly damaging	Het
Paf1	T	C	7: 28,096,040 (GRCm39)	M249T	possibly damaging	Het
Pcsk2	T	C	2: 143,538,620 (GRCm39)		probably null	Het
Piwil1	G	A	5: 128,820,944 (GRCm39)	V290I	possibly damaging	Het
Prmt9	A	T	8: 78,298,638 (GRCm39)	D444V	possibly damaging	Het
Rapgef2	T	C	3: 78,995,173 (GRCm39)	D677G	probably damaging	Het
Tmem59	A	G	4: 107,057,659 (GRCm39)	E237G	probably benign	Het
Trpm5	A	T	7: 142,634,705 (GRCm39)	I664N	probably damaging	Het
Unc13b	G	A	4: 43,257,936 (GRCm39)		probably null	Het
Usp17lc	C	A	7: 103,067,763 (GRCm39)	Q353K	probably benign	Het
Uvssa	G	A	5: 33,568,252 (GRCm39)	V547M	probably damaging	Het
Vdac1	G	T	11: 52,265,794 (GRCm39)	L52F	probably null	Het
Vmn2r14	T	A	5: 109,369,154 (GRCm39)	I140L	probably benign	Het
Wnt3a	A	G	11: 59,166,182 (GRCm39)	S33P	probably benign	Het
Wwp2	T	A	8: 108,281,710 (GRCm39)	Y300N	probably damaging	Het
Zwilch	T	A	9: 64,075,892 (GRCm39)		probably null	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
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
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'- CTCACCTGCTGTTGTGGATG -3'
(R):5'- TAAAAGAGTGCCTGGCCTC -3'

Sequencing Primer
(F):5'- TGTAAAAATATCAAGGGAGGCTCTTG -3'
(R):5'- AGTGCCTGGCCTCCCAAC -3'

Posted On

2016-09-01