Mutagenetix > Incidental Mutations

Incidental Mutation 'R6477:Osbpl1a'

516873

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: 0.146) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12756261 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 541 (I541V)

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: I933V

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

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: I933V

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: I420V

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

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: I420V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118313
AA Change: I420V

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

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: I420V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119043
AA Change: I420V

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

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: I420V

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: I541V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: I541V

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: I393V

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

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: I393V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121808
AA Change: I420V

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

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: I420V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121888
AA Change: I420V

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

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: I420V

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

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

0.0768

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

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. 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,257,630		probably null	Het
4933415F23Rik	A	T	1: 23,101,780	L151Q	probably benign	Het
Aatk	T	C	11: 120,018,870	D23G	probably benign	Het
Abca14	T	C	7: 120,325,102	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,502,212	V481M	probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,794,022	R20*	probably null	Het
Cops7a	A	T	6: 124,960,176	V184E	probably damaging	Het
Cpa3	T	C	3: 20,239,575	E83G	possibly damaging	Het
Crls1	C	T	2: 132,861,233	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,481,817	S153R	probably damaging	Het
Ddx54	T	A	5: 120,621,778	I410N	probably damaging	Het
Dido1	T	A	2: 180,660,481	T1877S	probably benign	Het
Dip2c	A	G	13: 9,623,760	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,677,886	V681I	probably benign	Het
Dst	A	G	1: 34,208,728		probably null	Het
Eya2	A	G	2: 165,763,761	T362A	probably benign	Het
Hgs	G	A	11: 120,469,655	V60M	probably damaging	Het
Inpp4b	A	G	8: 81,844,714		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kdr	C	A	5: 75,968,841	A129S	probably benign	Het
Lhcgr	A	T	17: 88,742,373	M575K	probably damaging	Het
Lsamp	G	T	16: 42,168,165		probably benign	Het
Mcm5	T	C	8: 75,112,602	V161A	probably benign	Het
Mmp14	A	T	14: 54,437,658	H249L	probably damaging	Het
Mroh5	A	G	15: 73,790,755	S405P	probably damaging	Het
Mroh9	C	A	1: 163,076,304	L46F	probably damaging	Het
Mtrr	A	T	13: 68,570,073	H357Q	probably damaging	Het
Myrf	G	A	19: 10,228,785	P89L	probably benign	Het
Mzb1	C	T	18: 35,648,258		probably null	Het
Naip6	A	G	13: 100,316,008	S182P	probably damaging	Het
Nmur2	A	T	11: 56,029,591	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,011,145	S35Y	probably benign	Het
Olfr1154	A	G	2: 87,902,990	S229P	probably damaging	Het
Olfr572	T	A	7: 102,928,378	V250E	probably damaging	Het
Olfr657	T	C	7: 104,635,679	S2P	probably benign	Het
Parp4	A	G	14: 56,647,237	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,980,659	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,536,627	T930A	probably benign	Het
Pomt1	G	A	2: 32,248,716		probably null	Het
Pramel6	A	G	2: 87,510,602	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,044,261	T83A	probably damaging	Het
Rbm27	T	A	18: 42,333,318	V915E	probably damaging	Het
Rnf114	T	A	2: 167,503,488	D10E	probably benign	Het
Sbk1	A	G	7: 126,291,178	E121G	probably damaging	Het
Senp6	A	T	9: 80,093,625	R39*	probably null	Het
Sergef	A	T	7: 46,633,826	I94N	probably benign	Het
Slc30a9	C	T	5: 67,328,524	R183W	probably benign	Het
Smurf1	C	T	5: 144,889,792	R414H	possibly damaging	Het
Sptb	A	T	12: 76,606,392	W1566R	probably damaging	Het
Tenm2	T	C	11: 36,010,507		probably null	Het
Tnni1	T	C	1: 135,805,566	V42A	probably benign	Het
Tnxb	A	G	17: 34,719,539	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,434,574	F46L	probably benign	Het
Ubqln5	G	A	7: 104,128,258	S453F	probably damaging	Het
Ubr3	A	T	2: 69,979,429	R1248*	probably null	Het
Utp20	A	G	10: 88,768,918	V1705A	probably benign	Het
Zfp60	G	A	7: 27,749,803	R632H	probably benign	Het
Zfp638	A	G	6: 83,965,578	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,480,910	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,704,167	K1355T	probably benign	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
R6267:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
R6296:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
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'- GTCATCCCCACTGTACCAGATG -3'
(R):5'- AGTACGCATATGTCCTCTGAC -3'

Sequencing Primer
(F):5'- ACTGTACCAGATGCCTTGC -3'
(R):5'- GTACGCATATGTCCTCTGACTAAAAC -3'

Posted On

2018-05-21