Mutagenetix > Incidental Mutations

Incidental Mutation 'R0084:Osbpl1a'

19830

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

038371-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12757612 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 524 (T524A)

Ref Sequence

ENSEMBL: ENSMUSP00000113914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000119512] [ENSMUST00000121018] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078]

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: T916A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: T916A

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 benign
Transcript: ENSMUST00000080415

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115857

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.2e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117361
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: T403A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118313
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: T403A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119043
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: T403A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119108

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	8.5e-13	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119512
AA Change: T524A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: T524A

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: ENSMUST00000121018

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	6.7e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121774
AA Change: T376A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: T376A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121808
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: T403A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121888
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: T403A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145777

Predicted Effect

probably benign
Transcript: ENSMUST00000150758

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186263

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191078

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.5%
20x: 86.0%

Validation Efficiency

99% (77/78)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,468,935	Y210*	probably null	Het
Abca8a	A	G	11: 110,036,597		probably benign	Het
Abcc9	A	G	6: 142,658,551	Y653H	probably damaging	Het
Acpp	A	T	9: 104,314,365	S241T	probably benign	Het
Acvr1	A	G	2: 58,458,883		probably null	Het
Adgb	T	C	10: 10,396,344	N832S	possibly damaging	Het
AI182371	A	G	2: 35,085,702		probably null	Het
Anapc1	G	A	2: 128,623,966		probably benign	Het
Apba1	T	C	19: 23,912,497	S420P	possibly damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
BC025446	T	A	15: 75,217,775	M44K	probably benign	Het
Bpifb2	A	T	2: 153,891,091	M365L	probably benign	Het
Btnl9	A	T	11: 49,178,779	N224K	possibly damaging	Het
Cntn1	A	T	15: 92,317,917	I944L	probably benign	Het
Cpa3	T	C	3: 20,242,101		probably benign	Het
Dcaf11	C	T	14: 55,569,243	R468C	probably benign	Het
E4f1	T	C	17: 24,444,082	T750A	possibly damaging	Het
Ercc5	A	G	1: 44,175,976	K890E	possibly damaging	Het
Fbrsl1	A	G	5: 110,379,515	L262P	probably damaging	Het
Flnb	A	G	14: 7,935,979	D2273G	probably benign	Het
Gm14085	A	G	2: 122,522,833	Y498C	possibly damaging	Het
Gm9848	A	T	13: 113,108,242		noncoding transcript	Het
Hcrtr1	T	A	4: 130,137,266	H75L	possibly damaging	Het
Heatr9	A	T	11: 83,512,895		probably benign	Het
Htatip2	G	A	7: 49,759,672	G58D	probably damaging	Het
Lmntd1	G	A	6: 145,404,528	H234Y	unknown	Het
Map4k3	T	C	17: 80,655,914	K85E	possibly damaging	Het
Moxd2	T	C	6: 40,879,408	D510G	probably null	Het
Mpv17l2	A	T	8: 70,764,545		probably benign	Het
Nbeal2	A	G	9: 110,643,710		probably null	Het
Ncapd3	A	G	9: 27,056,111	D581G	probably damaging	Het
Ndufb5	T	C	3: 32,737,203	V33A	probably benign	Het
Olfr517	A	T	7: 108,868,800	M118K	probably damaging	Het
Otogl	A	C	10: 107,901,341	S71A	probably damaging	Het
Ovol2	G	T	2: 144,305,888	N180K	probably damaging	Het
Pam	A	G	1: 97,896,049	V219A	probably benign	Het
Paox	C	T	7: 140,132,446	R197*	probably null	Het
Pax2	T	A	19: 44,818,435	Y290N	probably damaging	Het
Pik3ca	T	C	3: 32,462,788	M933T	possibly damaging	Het
Ppfia4	G	T	1: 134,299,426	R1124S	possibly damaging	Het
Prkch	T	C	12: 73,697,987	F258S	possibly damaging	Het
Rhob	G	A	12: 8,499,107	R176C	probably benign	Het
Sbf2	A	T	7: 110,442,366	I326N	possibly damaging	Het
Scgb2b2	A	T	7: 31,303,616	E45D	probably benign	Het
Scube3	T	A	17: 28,162,961	D320E	probably benign	Het
Serpina1f	A	G	12: 103,693,588	V145A	possibly damaging	Het
Slc6a5	A	C	7: 49,930,013	I380L	probably benign	Het
Spag16	A	G	1: 69,996,839	N342S	probably benign	Het
Spata16	A	G	3: 26,667,410	T27A	possibly damaging	Het
Spock3	A	C	8: 63,143,929	K89T	probably damaging	Het
Tbc1d1	T	C	5: 64,324,454	V795A	probably damaging	Het
Tirap	G	T	9: 35,189,162	H75Q	probably benign	Het
Tpk1	C	A	6: 43,346,829	V229L	possibly damaging	Het
Tshz2	A	G	2: 169,884,366	H294R	probably damaging	Het
Ttn	A	T	2: 76,872,699		probably benign	Het
Unc13d	C	T	11: 116,063,831	V984M	probably damaging	Het
Zbtb43	A	T	2: 33,453,984	Y373N	probably damaging	Het
Zfp646	T	A	7: 127,881,304	H884Q	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
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
R6267:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
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
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'- TGCAATCATAGCAGCCATCTGCC -3'
(R):5'- GTTACTGCTCTTAGTGCCATGCCTG -3'

Sequencing Primer
(F):5'- TAACCCCTGCGTTTGGAAAAG -3'
(R):5'- CGAATGTGTTTCCCATTGGC -3'

Posted On

2013-04-11