Mutagenetix > Incidental Mutations

Incidental Mutation 'R6267:Osbpl1a'

507121

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 12819503 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000124570] [ENSMUST00000143077] [ENSMUST00000155650]

Predicted Effect

probably null
Transcript: ENSMUST00000074352

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	336	6.02e-8	SMART
low complexity region	345	354	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC
Pfam:Oxysterol_BP	548	940	6.7e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000117361

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000118313

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119043

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119512

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
coiled coil region	38	71	N/A	INTRINSIC
Pfam:Oxysterol_BP	156	549	1.2e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121774

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	8	401	4e-150	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121808

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121888

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124570

Predicted Effect

probably null
Transcript: ENSMUST00000143077

SMART Domains

Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	184	3.5e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154614

Predicted Effect

probably null
Transcript: ENSMUST00000155650

SMART Domains

Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
coiled coil region	13	46	N/A	INTRINSIC
Pfam:Oxysterol_BP	131	187	1.3e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,791,180		probably null	Het
Atm	A	C	9: 53,444,000	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480	Y261*	probably null	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dst	A	C	1: 34,228,672	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Eif4enif1	T	A	11: 3,227,793	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989	Q91*	probably null	Het
Grb10	T	A	11: 11,970,639		probably benign	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Herc2	T	A	7: 56,153,166	C2112*	probably null	Het
Herc2	T	G	7: 56,204,718	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Ms4a7	A	T	19: 11,333,295	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 153,076,971	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392	T317I	probably damaging	Het
Pcnt	A	G	10: 76,385,798	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rorb	C	A	19: 18,977,857	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609		probably null	Het
Smco1	A	T	16: 32,274,014	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Usp16	A	G	16: 87,483,191	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635		probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly damaging	Het

Other mutations in Osbpl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Osbpl1a	APN	18	12757626	missense	possibly damaging	0.51
IGL01062:Osbpl1a	APN	18	12905075	missense	probably benign
IGL01450:Osbpl1a	APN	18	12871095	missense	possibly damaging	0.88
IGL01531:Osbpl1a	APN	18	12933581	missense	probably damaging	1.00
IGL01548:Osbpl1a	APN	18	12763575	missense	probably damaging	1.00
IGL01606:Osbpl1a	APN	18	12756214	missense	possibly damaging	0.79
IGL01672:Osbpl1a	APN	18	12766824	missense	probably damaging	1.00
IGL02372:Osbpl1a	APN	18	12841313	nonsense	probably null
IGL02451:Osbpl1a	APN	18	12914493	splice site	probably benign
IGL02490:Osbpl1a	APN	18	12882284	unclassified	probably benign
IGL02884:Osbpl1a	APN	18	12819578	nonsense	probably null
R0084:Osbpl1a	UTSW	18	12757612	missense	probably benign	0.07
R0266:Osbpl1a	UTSW	18	12871163	splice site	probably null
R0565:Osbpl1a	UTSW	18	12759444	missense	probably damaging	1.00
R0605:Osbpl1a	UTSW	18	12882279	critical splice acceptor site	probably null
R0899:Osbpl1a	UTSW	18	12757690	missense	possibly damaging	0.70
R1330:Osbpl1a	UTSW	18	12882194	critical splice donor site	probably null
R1464:Osbpl1a	UTSW	18	12914558	missense	probably benign
R1464:Osbpl1a	UTSW	18	12914558	missense	probably benign
R1475:Osbpl1a	UTSW	18	12757680	missense	probably damaging	1.00
R1495:Osbpl1a	UTSW	18	12758839	missense	probably benign	0.08
R1734:Osbpl1a	UTSW	18	12788316	splice site	probably null
R1930:Osbpl1a	UTSW	18	12905194	missense	probably benign	0.04
R1931:Osbpl1a	UTSW	18	12905194	missense	probably benign	0.04
R2109:Osbpl1a	UTSW	18	12759400	missense	probably damaging	1.00
R2144:Osbpl1a	UTSW	18	12871173	missense	probably benign	0.06
R2504:Osbpl1a	UTSW	18	12905031	missense	probably benign	0.30
R2762:Osbpl1a	UTSW	18	12766899	missense	possibly damaging	0.83
R2907:Osbpl1a	UTSW	18	12871072	unclassified	probably benign
R4306:Osbpl1a	UTSW	18	12819595	missense	probably benign
R4835:Osbpl1a	UTSW	18	12768536	critical splice donor site	probably null
R5097:Osbpl1a	UTSW	18	12763537	missense	probably damaging	1.00
R5173:Osbpl1a	UTSW	18	12762640	missense	probably benign	0.12
R5224:Osbpl1a	UTSW	18	12933696	missense	probably benign	0.01
R5245:Osbpl1a	UTSW	18	12758853	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12841192	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12892262	missense	probably benign	0.22
R5833:Osbpl1a	UTSW	18	12788362	missense	probably damaging	1.00
R5986:Osbpl1a	UTSW	18	12905081	missense	probably damaging	1.00
R6296:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
R6477:Osbpl1a	UTSW	18	12756261	missense	probably benign	0.03
R6997:Osbpl1a	UTSW	18	12756224	missense	probably benign	0.05
R7105:Osbpl1a	UTSW	18	12766963	missense	probably benign	0.17
R7107:Osbpl1a	UTSW	18	12841253	nonsense	probably null
R7154:Osbpl1a	UTSW	18	12768592	missense	probably benign	0.00
R7459:Osbpl1a	UTSW	18	12933585	missense	probably damaging	1.00
R7757:Osbpl1a	UTSW	18	12933600	missense	probably benign	0.44
R7797:Osbpl1a	UTSW	18	12882264	missense	probably damaging	0.99
R8029:Osbpl1a	UTSW	18	12914521	missense	probably benign	0.01
R8084:Osbpl1a	UTSW	18	12905042	missense	probably damaging	1.00
R8506:Osbpl1a	UTSW	18	12768586	missense	probably benign	0.02
R8947:Osbpl1a	UTSW	18	12766801	critical splice donor site	probably null
X0027:Osbpl1a	UTSW	18	12759503	missense	possibly damaging	0.46
Z1177:Osbpl1a	UTSW	18	12906923	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGACACTTCCTGAAAGCCTG -3'
(R):5'- CATTCATCATGAGCCCGCTC -3'

Sequencing Primer
(F):5'- CCTGGGGGCTAAAACCAAGC -3'
(R):5'- TCTGCCACAGGTTCCGAGTC -3'

Posted On

2018-03-15