Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Osbpl11'

507550

Institutional Source

Beutler Lab

Gene Symbol

Osbpl11

Ensembl Gene

ENSMUSG00000022807

Gene Name

oxysterol binding protein-like 11

Synonyms

ORP-11

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33185071-33243312 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33227056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 463 (I463N)

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 damaging
Transcript: ENSMUST00000039733
AA Change: I463N

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

SMART Domains

Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: I463N

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 damaging
Transcript: ENSMUST00000232100
AA Change: I457N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232181
AA Change: I463N

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

Meta Mutation Damage Score

0.9356

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clk4	A	G	11: 51,271,921	S98G	possibly damaging	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Dock10	A	G	1: 80,538,823	S1397P	probably damaging	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,415,939	C336S	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Olfr1451	G	A	19: 12,999,870	V295I	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	probably damaging	Het

Other mutations in Osbpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Osbpl11	APN	16	33241745	missense	probably damaging	1.00
IGL01084:Osbpl11	APN	16	33226851	splice site	probably benign
IGL03009:Osbpl11	APN	16	33241730	splice site	probably benign
PIT4504001:Osbpl11	UTSW	16	33234494	missense	probably benign	0.04
R0071:Osbpl11	UTSW	16	33214338	splice site	probably benign
R0071:Osbpl11	UTSW	16	33214338	splice site	probably benign
R0472:Osbpl11	UTSW	16	33234444	nonsense	probably null
R0508:Osbpl11	UTSW	16	33196095	missense	probably benign
R0609:Osbpl11	UTSW	16	33234444	nonsense	probably null
R0715:Osbpl11	UTSW	16	33241730	splice site	probably benign
R1148:Osbpl11	UTSW	16	33227212	missense	probably damaging	1.00
R1148:Osbpl11	UTSW	16	33227212	missense	probably damaging	1.00
R1275:Osbpl11	UTSW	16	33185850	missense	probably benign	0.10
R1459:Osbpl11	UTSW	16	33236329	missense	probably damaging	1.00
R1464:Osbpl11	UTSW	16	33229085	missense	probably damaging	0.97
R1464:Osbpl11	UTSW	16	33229085	missense	probably damaging	0.97
R1591:Osbpl11	UTSW	16	33209983	missense	probably benign	0.00
R1752:Osbpl11	UTSW	16	33204835	missense	probably damaging	1.00
R1883:Osbpl11	UTSW	16	33214353	missense	probably benign
R1916:Osbpl11	UTSW	16	33185843	missense	probably benign
R1916:Osbpl11	UTSW	16	33210095	missense	possibly damaging	0.82
R4369:Osbpl11	UTSW	16	33224648	missense	probably damaging	1.00
R4649:Osbpl11	UTSW	16	33196082	missense	probably benign	0.12
R4873:Osbpl11	UTSW	16	33234493	missense	probably benign	0.00
R4875:Osbpl11	UTSW	16	33234493	missense	probably benign	0.00
R6074:Osbpl11	UTSW	16	33209965	missense	probably benign	0.28
R7007:Osbpl11	UTSW	16	33226939	missense	possibly damaging	0.81
R7399:Osbpl11	UTSW	16	33236279	missense	probably benign
R7698:Osbpl11	UTSW	16	33234447	missense	probably benign	0.04
R7814:Osbpl11	UTSW	16	33210061	nonsense	probably null
R7934:Osbpl11	UTSW	16	33236382	missense	probably damaging	1.00
R8870:Osbpl11	UTSW	16	33214480	missense	probably benign	0.00
R8904:Osbpl11	UTSW	16	33227237	missense	probably damaging	1.00
R9149:Osbpl11	UTSW	16	33227290	missense
R9328:Osbpl11	UTSW	16	33226875	missense	probably damaging	1.00
R9486:Osbpl11	UTSW	16	33185913	missense	possibly damaging	0.89
Z1177:Osbpl11	UTSW	16	33227084	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGAAGCGTTCCTTACTG -3'
(R):5'- AGTCCAGACATGTGCATTTACAC -3'

Sequencing Primer
(F):5'- CCTTACTGGAGATGTACGCAG -3'
(R):5'- TCTGCATAAAATCCTGAGACTGGAG -3'

Posted On

2018-03-15