Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Osbpl1a'

55693

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

G430090F17Rik, LOC328902

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12888371-13074898 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 13015336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000119512]

AlphaFold

Q91XL9

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 benign
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

noncoding transcript
Transcript: ENSMUST00000132594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154614

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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
4933406P04Rik	G	A	10: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Foxred1	T	C	9: 35,116,178 (GRCm39)	Y490C	possibly damaging	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Icam5	T	C	9: 20,943,493 (GRCm39)	I23T	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or5ae2	T	C	7: 84,506,345 (GRCm39)	I256T	probably damaging	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	Het

Other mutations in Osbpl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Osbpl1a	APN	18	12,890,683 (GRCm39)	missense	possibly damaging	0.51
IGL01062:Osbpl1a	APN	18	13,038,132 (GRCm39)	missense	probably benign
IGL01450:Osbpl1a	APN	18	13,004,152 (GRCm39)	missense	possibly damaging	0.88
IGL01531:Osbpl1a	APN	18	13,066,638 (GRCm39)	missense	probably damaging	1.00
IGL01548:Osbpl1a	APN	18	12,896,632 (GRCm39)	missense	probably damaging	1.00
IGL01606:Osbpl1a	APN	18	12,889,271 (GRCm39)	missense	possibly damaging	0.79
IGL01672:Osbpl1a	APN	18	12,899,881 (GRCm39)	missense	probably damaging	1.00
IGL02372:Osbpl1a	APN	18	12,974,370 (GRCm39)	nonsense	probably null
IGL02451:Osbpl1a	APN	18	13,047,550 (GRCm39)	splice site	probably benign
IGL02490:Osbpl1a	APN	18	13,015,341 (GRCm39)	unclassified	probably benign
IGL02884:Osbpl1a	APN	18	12,952,635 (GRCm39)	nonsense	probably null
R0084:Osbpl1a	UTSW	18	12,890,669 (GRCm39)	missense	probably benign	0.07
R0266:Osbpl1a	UTSW	18	13,004,220 (GRCm39)	splice site	probably null
R0565:Osbpl1a	UTSW	18	12,892,501 (GRCm39)	missense	probably damaging	1.00
R0899:Osbpl1a	UTSW	18	12,890,747 (GRCm39)	missense	possibly damaging	0.70
R1330:Osbpl1a	UTSW	18	13,015,251 (GRCm39)	critical splice donor site	probably null
R1464:Osbpl1a	UTSW	18	13,047,615 (GRCm39)	missense	probably benign
R1464:Osbpl1a	UTSW	18	13,047,615 (GRCm39)	missense	probably benign
R1475:Osbpl1a	UTSW	18	12,890,737 (GRCm39)	missense	probably damaging	1.00
R1495:Osbpl1a	UTSW	18	12,891,896 (GRCm39)	missense	probably benign	0.08
R1734:Osbpl1a	UTSW	18	12,921,373 (GRCm39)	splice site	probably null
R1930:Osbpl1a	UTSW	18	13,038,251 (GRCm39)	missense	probably benign	0.04
R1931:Osbpl1a	UTSW	18	13,038,251 (GRCm39)	missense	probably benign	0.04
R2109:Osbpl1a	UTSW	18	12,892,457 (GRCm39)	missense	probably damaging	1.00
R2144:Osbpl1a	UTSW	18	13,004,230 (GRCm39)	missense	probably benign	0.06
R2504:Osbpl1a	UTSW	18	13,038,088 (GRCm39)	missense	probably benign	0.30
R2762:Osbpl1a	UTSW	18	12,899,956 (GRCm39)	missense	possibly damaging	0.83
R2907:Osbpl1a	UTSW	18	13,004,129 (GRCm39)	unclassified	probably benign
R4306:Osbpl1a	UTSW	18	12,952,652 (GRCm39)	missense	probably benign
R4835:Osbpl1a	UTSW	18	12,901,593 (GRCm39)	critical splice donor site	probably null
R5097:Osbpl1a	UTSW	18	12,896,594 (GRCm39)	missense	probably damaging	1.00
R5173:Osbpl1a	UTSW	18	12,895,697 (GRCm39)	missense	probably benign	0.12
R5224:Osbpl1a	UTSW	18	13,066,753 (GRCm39)	missense	probably benign	0.01
R5245:Osbpl1a	UTSW	18	12,891,910 (GRCm39)	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	13,025,319 (GRCm39)	missense	probably benign	0.22
R5579:Osbpl1a	UTSW	18	12,974,249 (GRCm39)	missense	probably damaging	1.00
R5833:Osbpl1a	UTSW	18	12,921,419 (GRCm39)	missense	probably damaging	1.00
R5986:Osbpl1a	UTSW	18	13,038,138 (GRCm39)	missense	probably damaging	1.00
R6267:Osbpl1a	UTSW	18	12,952,560 (GRCm39)	critical splice donor site	probably null
R6296:Osbpl1a	UTSW	18	12,952,560 (GRCm39)	critical splice donor site	probably null
R6477:Osbpl1a	UTSW	18	12,889,318 (GRCm39)	missense	probably benign	0.03
R6997:Osbpl1a	UTSW	18	12,889,281 (GRCm39)	missense	probably benign	0.05
R7105:Osbpl1a	UTSW	18	12,900,020 (GRCm39)	missense	probably benign	0.17
R7107:Osbpl1a	UTSW	18	12,974,310 (GRCm39)	nonsense	probably null
R7154:Osbpl1a	UTSW	18	12,901,649 (GRCm39)	missense	probably benign	0.00
R7459:Osbpl1a	UTSW	18	13,066,642 (GRCm39)	missense	probably damaging	1.00
R7757:Osbpl1a	UTSW	18	13,066,657 (GRCm39)	missense	probably benign	0.44
R7797:Osbpl1a	UTSW	18	13,015,321 (GRCm39)	missense	probably damaging	0.99
R8029:Osbpl1a	UTSW	18	13,047,578 (GRCm39)	missense	probably benign	0.01
R8084:Osbpl1a	UTSW	18	13,038,099 (GRCm39)	missense	probably damaging	1.00
R8506:Osbpl1a	UTSW	18	12,901,643 (GRCm39)	missense	probably benign	0.02
R8947:Osbpl1a	UTSW	18	12,899,858 (GRCm39)	critical splice donor site	probably null
R9069:Osbpl1a	UTSW	18	13,002,074 (GRCm39)	intron	probably benign
R9085:Osbpl1a	UTSW	18	13,062,093 (GRCm39)	missense	probably damaging	1.00
R9288:Osbpl1a	UTSW	18	12,904,402 (GRCm39)	missense	probably damaging	1.00
R9443:Osbpl1a	UTSW	18	13,031,244 (GRCm39)	missense	probably benign	0.00
R9517:Osbpl1a	UTSW	18	13,042,965 (GRCm39)	missense	probably benign
R9600:Osbpl1a	UTSW	18	13,015,277 (GRCm39)	missense	probably benign	0.00
R9658:Osbpl1a	UTSW	18	12,889,269 (GRCm39)	missense	probably benign	0.05
R9694:Osbpl1a	UTSW	18	12,952,565 (GRCm39)	missense	probably benign	0.03
X0027:Osbpl1a	UTSW	18	12,892,560 (GRCm39)	missense	possibly damaging	0.46
Z1177:Osbpl1a	UTSW	18	13,039,980 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCGGAGATCCAAGTGCAAGCAG -3'
(R):5'- TGCCTACAGGGCTGATGTTGAATG -3'

Sequencing Primer
(F):5'- caccttgtcctctgtcctc -3'
(R):5'- TGTATCCAAATTGCAAGTGTTGA -3'

Posted On

2013-07-11