Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Osbpl6'

551751

Institutional Source

Beutler Lab

Gene Symbol

Osbpl6

Ensembl Gene

ENSMUSG00000042359

Gene Name

oxysterol binding protein-like 6

Synonyms

1110062M20Rik, ORP-6

MMRRC Submission

Accession Numbers

Genbank: NM_145525; MGI: 2139014

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76406508-76600647 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76595881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 935 (I935F)

Ref Sequence

ENSEMBL: ENSMUSP00000077123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]

AlphaFold

Q8BXR9

Predicted Effect

probably benign
Transcript: ENSMUST00000077972
AA Change: I935F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: I935F

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
low complexity region	537	550	N/A	INTRINSIC
Pfam:Oxysterol_BP	603	951	1.4e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111929
AA Change: I927F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: I927F

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
coiled coil region	441	472	N/A	INTRINSIC
low complexity region	529	542	N/A	INTRINSIC
Pfam:Oxysterol_BP	595	944	1.1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111930
AA Change: I896F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: I896F

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
coiled coil region	410	441	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
Pfam:Oxysterol_BP	564	913	1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184442

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359

Domain	Start	End	E-Value	Type
Blast:PH	1	70	8e-41	BLAST
low complexity region	87	98	N/A	INTRINSIC
coiled coil region	142	172	N/A	INTRINSIC
coiled coil region	303	334	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
Pfam:Oxysterol_BP	457	794	2.6e-135	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Osbpl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Osbpl6	APN	2	76590439	missense	probably damaging	1.00
IGL01109:Osbpl6	APN	2	76549527	missense	probably damaging	1.00
IGL01288:Osbpl6	APN	2	76564823	missense	probably damaging	0.98
IGL01717:Osbpl6	APN	2	76588594	missense	probably damaging	1.00
IGL02146:Osbpl6	APN	2	76549750	missense	possibly damaging	0.90
IGL02597:Osbpl6	APN	2	76555974	nonsense	probably null
IGL02652:Osbpl6	APN	2	76593454	missense	probably damaging	1.00
IGL02867:Osbpl6	APN	2	76595870	splice site	probably benign
IGL03143:Osbpl6	APN	2	76548372	missense	probably damaging	1.00
3-1:Osbpl6	UTSW	2	76586151	missense	probably damaging	1.00
R0085:Osbpl6	UTSW	2	76593414	missense	probably benign	0.30
R0201:Osbpl6	UTSW	2	76546042	missense	possibly damaging	0.92
R0573:Osbpl6	UTSW	2	76590391	missense	probably damaging	1.00
R0644:Osbpl6	UTSW	2	76594840	missense	probably damaging	1.00
R0855:Osbpl6	UTSW	2	76585133	missense	probably damaging	1.00
R0855:Osbpl6	UTSW	2	76591839	missense	probably damaging	1.00
R1017:Osbpl6	UTSW	2	76549719	missense	probably damaging	1.00
R1459:Osbpl6	UTSW	2	76555065	missense	probably benign	0.01
R1505:Osbpl6	UTSW	2	76579242	missense	probably damaging	1.00
R1588:Osbpl6	UTSW	2	76579216	missense	probably benign
R1786:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R1863:Osbpl6	UTSW	2	76585058	missense	probably damaging	1.00
R2131:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2132:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2133:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2233:Osbpl6	UTSW	2	76586769	missense	probably damaging	0.99
R2235:Osbpl6	UTSW	2	76586769	missense	probably damaging	0.99
R2256:Osbpl6	UTSW	2	76584474	missense	probably damaging	1.00
R2294:Osbpl6	UTSW	2	76577079	missense	possibly damaging	0.81
R3023:Osbpl6	UTSW	2	76586733	missense	probably damaging	1.00
R4192:Osbpl6	UTSW	2	76585229	missense	probably damaging	1.00
R4544:Osbpl6	UTSW	2	76584492	missense	possibly damaging	0.84
R4546:Osbpl6	UTSW	2	76584492	missense	possibly damaging	0.84
R4664:Osbpl6	UTSW	2	76568208	missense	probably benign	0.02
R4764:Osbpl6	UTSW	2	76546000	missense	probably damaging	1.00
R4884:Osbpl6	UTSW	2	76549539	missense	probably damaging	1.00
R5080:Osbpl6	UTSW	2	76524085	missense	probably benign	0.31
R5430:Osbpl6	UTSW	2	76586138	missense	probably damaging	1.00
R5614:Osbpl6	UTSW	2	76568109	missense	probably damaging	1.00
R5807:Osbpl6	UTSW	2	76584513	missense	probably damaging	0.98
R5956:Osbpl6	UTSW	2	76549512	missense	probably damaging	1.00
R6394:Osbpl6	UTSW	2	76555954	missense	probably benign	0.00
R6430:Osbpl6	UTSW	2	76579276	missense	probably damaging	1.00
R6450:Osbpl6	UTSW	2	76564830	missense	possibly damaging	0.90
R7385:Osbpl6	UTSW	2	76549450	missense	probably damaging	1.00
R7422:Osbpl6	UTSW	2	76593386	missense	probably damaging	1.00
R7561:Osbpl6	UTSW	2	76586154	missense	probably damaging	1.00
R7829:Osbpl6	UTSW	2	76593387	missense	probably damaging	1.00
R7921:Osbpl6	UTSW	2	76585097	missense	probably damaging	1.00
R8183:Osbpl6	UTSW	2	76585060	missense	probably damaging	1.00
R8219:Osbpl6	UTSW	2	76555903	missense	probably damaging	0.98
R8548:Osbpl6	UTSW	2	76579222	missense	possibly damaging	0.88
R8682:Osbpl6	UTSW	2	76577081	missense	probably benign	0.00
R8935:Osbpl6	UTSW	2	76549456	missense	possibly damaging	0.60
R9157:Osbpl6	UTSW	2	76552124	missense	probably benign	0.00
R9303:Osbpl6	UTSW	2	76548372	missense	probably damaging	1.00
R9305:Osbpl6	UTSW	2	76548372	missense	probably damaging	1.00
R9526:Osbpl6	UTSW	2	76585259	missense	probably damaging	0.98
R9536:Osbpl6	UTSW	2	76586210	missense	probably benign	0.00
R9564:Osbpl6	UTSW	2	76595977	missense	probably damaging	1.00
R9571:Osbpl6	UTSW	2	76594847	missense	probably benign	0.03
R9585:Osbpl6	UTSW	2	76524094	missense	probably benign
R9771:Osbpl6	UTSW	2	76593427	missense	possibly damaging	0.89
R9790:Osbpl6	UTSW	2	76555017	missense	probably damaging	1.00
R9791:Osbpl6	UTSW	2	76555017	missense	probably damaging	1.00
Z1177:Osbpl6	UTSW	2	76540179	missense	probably benign	0.01
Z31818:Osbpl6	UTSW	2	76555082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCATTAGTTCCGGCCCTTAG -3'
(R):5'- CTTTTCAGTCGACCCAGAAACC -3'

Sequencing Primer
(F):5'- AGTTCCGGCCCTTAGTCTTTTGG -3'
(R):5'- CGTAGCTATAAGAAACATAATTGTGC -3'

Posted On

2019-05-15