Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Osbpl1a'

617860

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12914521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 125 (E125D)

Ref Sequence

ENSEMBL: ENSMUSP00000073957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000122175] [ENSMUST00000147197]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: E125D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: E125D

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: ENSMUST00000122175
AA Change: E125D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113491
Gene: ENSMUSG00000044252
AA Change: E125D

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	335	3.63e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147197

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	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
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
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'- CCCTTATCTTGATATGCACTGAAAACA -3'
(R):5'- AGCAATCACTAATTTGCAAAAGGA -3'

Sequencing Primer
(F):5'- GGATGTGAAATCTTCCCCCAG -3'
(R):5'- AATCACTAATTTGCAAAAGGATTGTC -3'

Posted On

2020-01-23