Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Osbpl1a'

655608

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: 0.176) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12768586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 621 (T621I)

Ref Sequence

ENSEMBL: ENSMUSP00000073957 (fasta)

Gene Model

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

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: T621I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: T621I

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: ENSMUST00000117361
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118313
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119043
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119512
AA Change: T229I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: T229I

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
AA Change: T81I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: T81I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121808
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121888
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143077
AA Change: T108I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: T108I

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

Predicted Effect

probably benign
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,942,972	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616		probably benign	Het
Ank1	G	A	8: 23,096,835	A498T	probably damaging	Het
Antxr1	T	A	6: 87,188,173	E427D	possibly damaging	Het
App	A	C	16: 85,082,816	V143G	unknown	Het
Bod1l	C	A	5: 41,819,055	E1639*	probably null	Het
C2cd2	T	C	16: 97,875,421	D122G		Het
Ccdc88b	G	T	19: 6,847,322	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,714,662	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,891,752	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,852,270	A106S	unknown	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chpf2	T	C	5: 24,588,297	L87P	probably damaging	Het
Col5a2	A	T	1: 45,442,784	I60N	unknown	Het
Cux1	T	A	5: 136,308,504	E718V	probably damaging	Het
Dchs2	A	T	3: 83,301,174	I1845L	probably benign	Het
Disp3	C	T	4: 148,241,570	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,721,134	S1685P	probably benign	Het
Etnppl	G	A	3: 130,629,473	V274I	possibly damaging	Het
Evc2	T	C	5: 37,383,142	S561P	probably damaging	Het
Fga	A	G	3: 83,033,316	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,453,950	F372S	probably benign	Het
Gpr155	T	C	2: 73,343,462	T868A	probably damaging	Het
Herc1	A	G	9: 66,473,581	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,341,624		probably null	Het
Ibsp	A	T	5: 104,310,081	E161D	probably damaging	Het
Ighv8-4	A	G	12: 115,024,108	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,418,416		probably null	Het
Kcnc2	T	A	10: 112,455,632	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,322,332	I229T	probably damaging	Het
Lamb1	A	T	12: 31,329,361	L1791F	probably damaging	Het
Med6	A	T	12: 81,594,960	M1K	probably null	Het
Mei4	A	G	9: 81,979,238	D294G	probably benign	Het
Nat10	T	C	2: 103,732,237	I585V	probably benign	Het
Nid1	T	C	13: 13,476,174	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,100,776	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,257	A416T	probably benign	Het
Nsl1	G	C	1: 191,076,635	C173S	unknown	Het
Obsl1	G	A	1: 75,505,656	A190V	probably benign	Het
Olfr1047	A	G	2: 86,228,578	L131P	possibly damaging	Het
Olfr1085	T	C	2: 86,658,401	D19G	probably benign	Het
Olfr1151	A	T	2: 87,857,837	I221F	probably damaging	Het
Olfr1469	A	G	19: 13,411,240	T224A	possibly damaging	Het
Olfr535	G	A	7: 140,493,423	V262I	probably benign	Het
Olfr583	T	A	7: 103,051,502	M68K	probably damaging	Het
Pabpc4l	G	A	3: 46,446,397	R271*	probably null	Het
Paics	A	T	5: 76,964,590	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,738,684	D522G	probably damaging	Het
Pclo	T	A	5: 14,540,745	C1020S	unknown	Het
Pfkfb4	T	G	9: 109,005,599	D113E	possibly damaging	Het
Plod3	A	G	5: 136,988,976	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,158,264	M111K	probably damaging	Het
Pole2	A	C	12: 69,208,960	S344A	probably benign	Het
Pom121l2	A	G	13: 21,983,619	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181	S313P	probably damaging	Het
Rd3	T	G	1: 191,983,267	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,928,356	V235I	probably benign	Het
Senp5	T	C	16: 31,968,901	I635V	probably damaging	Het
Stox2	T	C	8: 47,192,073	E784G	possibly damaging	Het
Syce2	A	T	8: 84,887,166	D168V	probably benign	Het
Taar6	A	G	10: 23,985,631	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,148,958	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,545,401	I371N	probably damaging	Het
Trim31	A	T	17: 36,907,258		probably null	Het
Usp48	A	G	4: 137,610,718	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,059,404	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,584,365	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,745	D515E	probably benign	Het
Yeats2	T	G	16: 20,152,934	I42M	probably 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
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
R8947:Osbpl1a	UTSW	18	12766801	critical splice donor site	probably null
R9069:Osbpl1a	UTSW	18	12869017	intron	probably benign
R9085:Osbpl1a	UTSW	18	12929036	missense	probably damaging	1.00
R9288:Osbpl1a	UTSW	18	12771345	missense	probably damaging	1.00
R9443:Osbpl1a	UTSW	18	12898187	missense	probably benign	0.00
R9517:Osbpl1a	UTSW	18	12909908	missense	probably benign
R9600:Osbpl1a	UTSW	18	12882220	missense	probably benign	0.00
R9658:Osbpl1a	UTSW	18	12756212	missense	probably benign	0.05
R9694:Osbpl1a	UTSW	18	12819508	missense	probably benign	0.03
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'- CTCAAGTTTCATAGACATGGACATC -3'
(R):5'- TGGCACTGTAGGATGAGATCTAG -3'

Sequencing Primer
(F):5'- CACCTAGAATGGAGCAGA -3'
(R):5'- GAGTGTACACGCTTCTACAGTAACG -3'

Posted On

2020-10-20