Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Osbpl11'

62841

Institutional Source

Beutler Lab

Gene Symbol

Osbpl11

Ensembl Gene

ENSMUSG00000022807

Gene Name

oxysterol binding protein-like 11

Synonyms

ORP-11

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0715 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

33005441-33063682 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 33062100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039733] [ENSMUST00000232100] [ENSMUST00000232181]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039733

SMART Domains

Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807

Domain	Start	End	E-Value	Type
low complexity region	37	59	N/A	INTRINSIC
PH	70	168	2.03e-14	SMART
low complexity region	257	268	N/A	INTRINSIC
Pfam:Oxysterol_BP	383	749	1.9e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231617

Predicted Effect

probably benign
Transcript: ENSMUST00000232100

Predicted Effect

probably benign
Transcript: ENSMUST00000232181

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,179,176 (GRCm39)	Y170C	probably damaging	Het
Adcy2	C	T	13: 69,036,161 (GRCm39)	V167I	probably benign	Het
Agl	A	G	3: 116,545,825 (GRCm39)	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,641,860 (GRCm39)	Q170K	probably damaging	Het
Asah2	A	G	19: 31,994,176 (GRCm39)	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,932,068 (GRCm39)	H240Q	probably benign	Het
Btbd16	T	A	7: 130,390,557 (GRCm39)	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,803,499 (GRCm39)		probably benign	Het
Cecr2	G	T	6: 120,735,159 (GRCm39)	M21I	probably benign	Het
Ckap2l	T	C	2: 129,127,636 (GRCm39)	T181A	probably benign	Het
Col4a3	T	C	1: 82,629,879 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,252,576 (GRCm39)	C1933S	probably benign	Het
Dnah9	A	G	11: 65,972,074 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,611,706 (GRCm39)	L516P	possibly damaging	Het
Fat3	T	C	9: 16,286,419 (GRCm39)	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947 (GRCm39)	T10A	unknown	Het
Gm9631	C	A	11: 121,833,328 (GRCm39)	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,531,614 (GRCm39)		probably benign	Het
Gsk3a	A	G	7: 24,931,134 (GRCm39)	V277A	probably damaging	Het
H2-M1	T	A	17: 36,981,120 (GRCm39)		probably benign	Het
Hesx1	T	A	14: 26,722,809 (GRCm39)	W45R	probably damaging	Het
Il23r	T	A	6: 67,463,317 (GRCm39)	M59L	possibly damaging	Het
Insc	T	A	7: 114,444,312 (GRCm39)	V433E	probably benign	Het
Itga8	T	C	2: 12,196,053 (GRCm39)		probably benign	Het
Kif13a	T	A	13: 46,966,299 (GRCm39)	E436V	probably damaging	Het
Liph	A	G	16: 21,814,100 (GRCm39)	F7S	probably benign	Het
Lpar2	T	C	8: 70,276,823 (GRCm39)	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,662,668 (GRCm39)		probably null	Het
Man2b2	A	T	5: 36,983,402 (GRCm39)	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,156 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,705,639 (GRCm39)		probably benign	Het
Mtx3	T	C	13: 92,986,869 (GRCm39)	S271P	probably damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Necab2	A	G	8: 120,197,670 (GRCm39)	D332G	probably damaging	Het
Ngfr	A	G	11: 95,465,065 (GRCm39)	I261T	possibly damaging	Het
Nrap	T	C	19: 56,345,757 (GRCm39)	E617G	probably damaging	Het
Obscn	G	T	11: 58,941,306 (GRCm39)	T4505K	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8b57	A	G	9: 40,003,807 (GRCm39)	Y148H	probably damaging	Het
Otof	A	G	5: 30,552,041 (GRCm39)	V301A	probably damaging	Het
Phf3	A	T	1: 30,850,919 (GRCm39)	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,626,540 (GRCm39)	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,811,127 (GRCm39)	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,721,984 (GRCm39)	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,331,976 (GRCm39)	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,373,341 (GRCm39)	E836G	possibly damaging	Het
Simc1	G	T	13: 54,673,468 (GRCm39)	M605I	possibly damaging	Het
Slc12a3	G	A	8: 95,056,061 (GRCm39)	E66K	possibly damaging	Het
Spg11	T	C	2: 121,915,464 (GRCm39)	N1060S	probably benign	Het
Supt5	A	T	7: 28,028,462 (GRCm39)	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,756,740 (GRCm39)	F126L	probably benign	Het
Ube2m	T	A	7: 12,771,553 (GRCm39)	Q35L	probably benign	Het
Usp33	A	G	3: 152,086,211 (GRCm39)	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,238,373 (GRCm39)	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,104,434 (GRCm39)	D352E	probably damaging	Het
Zfp516	A	G	18: 83,005,388 (GRCm39)	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,167,473 (GRCm39)		probably benign	Het

Other mutations in Osbpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Osbpl11	APN	16	33,062,115 (GRCm39)	missense	probably damaging	1.00
IGL01084:Osbpl11	APN	16	33,047,221 (GRCm39)	splice site	probably benign
IGL03009:Osbpl11	APN	16	33,062,100 (GRCm39)	splice site	probably benign
PIT4504001:Osbpl11	UTSW	16	33,054,864 (GRCm39)	missense	probably benign	0.04
R0071:Osbpl11	UTSW	16	33,034,708 (GRCm39)	splice site	probably benign
R0071:Osbpl11	UTSW	16	33,034,708 (GRCm39)	splice site	probably benign
R0472:Osbpl11	UTSW	16	33,054,814 (GRCm39)	nonsense	probably null
R0508:Osbpl11	UTSW	16	33,016,465 (GRCm39)	missense	probably benign
R0609:Osbpl11	UTSW	16	33,054,814 (GRCm39)	nonsense	probably null
R1148:Osbpl11	UTSW	16	33,047,582 (GRCm39)	missense	probably damaging	1.00
R1148:Osbpl11	UTSW	16	33,047,582 (GRCm39)	missense	probably damaging	1.00
R1275:Osbpl11	UTSW	16	33,006,220 (GRCm39)	missense	probably benign	0.10
R1459:Osbpl11	UTSW	16	33,056,699 (GRCm39)	missense	probably damaging	1.00
R1464:Osbpl11	UTSW	16	33,049,455 (GRCm39)	missense	probably damaging	0.97
R1464:Osbpl11	UTSW	16	33,049,455 (GRCm39)	missense	probably damaging	0.97
R1591:Osbpl11	UTSW	16	33,030,353 (GRCm39)	missense	probably benign	0.00
R1752:Osbpl11	UTSW	16	33,025,205 (GRCm39)	missense	probably damaging	1.00
R1883:Osbpl11	UTSW	16	33,034,723 (GRCm39)	missense	probably benign
R1916:Osbpl11	UTSW	16	33,030,465 (GRCm39)	missense	possibly damaging	0.82
R1916:Osbpl11	UTSW	16	33,006,213 (GRCm39)	missense	probably benign
R4369:Osbpl11	UTSW	16	33,045,018 (GRCm39)	missense	probably damaging	1.00
R4649:Osbpl11	UTSW	16	33,016,452 (GRCm39)	missense	probably benign	0.12
R4873:Osbpl11	UTSW	16	33,054,863 (GRCm39)	missense	probably benign	0.00
R4875:Osbpl11	UTSW	16	33,054,863 (GRCm39)	missense	probably benign	0.00
R6074:Osbpl11	UTSW	16	33,030,335 (GRCm39)	missense	probably benign	0.28
R6274:Osbpl11	UTSW	16	33,047,426 (GRCm39)	missense	probably damaging	1.00
R7007:Osbpl11	UTSW	16	33,047,309 (GRCm39)	missense	possibly damaging	0.81
R7399:Osbpl11	UTSW	16	33,056,649 (GRCm39)	missense	probably benign
R7698:Osbpl11	UTSW	16	33,054,817 (GRCm39)	missense	probably benign	0.04
R7814:Osbpl11	UTSW	16	33,030,431 (GRCm39)	nonsense	probably null
R7934:Osbpl11	UTSW	16	33,056,752 (GRCm39)	missense	probably damaging	1.00
R8870:Osbpl11	UTSW	16	33,034,850 (GRCm39)	missense	probably benign	0.00
R8904:Osbpl11	UTSW	16	33,047,607 (GRCm39)	missense	probably damaging	1.00
R9149:Osbpl11	UTSW	16	33,047,660 (GRCm39)	missense
R9328:Osbpl11	UTSW	16	33,047,245 (GRCm39)	missense	probably damaging	1.00
R9486:Osbpl11	UTSW	16	33,006,283 (GRCm39)	missense	possibly damaging	0.89
Z1177:Osbpl11	UTSW	16	33,047,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTCTGCATTTCTGCCGCAGC -3'
(R):5'- AACAGGTCACTCAGTGCAAAGACTC -3'

Sequencing Primer
(F):5'- ggacaaaatatctgacaagccac -3'
(R):5'- ACTCCATCTGAGAGGGCTTG -3'

Posted On

2013-07-30