Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01148:Osbpl8'

52184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osbpl8

Ensembl Gene

ENSMUSG00000020189

Gene Name

oxysterol binding protein-like 8

Synonyms

ORP-8, D330025H14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL01148

Quality Score

Status

Chromosome

Chromosomal Location

111000663-111133110 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 111112424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095310] [ENSMUST00000105275]

AlphaFold

B9EJ86

Predicted Effect

probably benign
Transcript: ENSMUST00000095310

SMART Domains

Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
coiled coil region	71	102	N/A	INTRINSIC
PH	107	225	3.65e-16	SMART
Pfam:Oxysterol_BP	364	715	6.4e-91	PFAM
coiled coil region	789	811	N/A	INTRINSIC
transmembrane domain	829	846	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105275

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
coiled coil region	113	144	N/A	INTRINSIC
PH	149	267	3.65e-16	SMART
Pfam:Oxysterol_BP	406	752	4.6e-91	PFAM
coiled coil region	831	853	N/A	INTRINSIC
transmembrane domain	871	888	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the oxysterol-binding protein (Osbp) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal Osbp-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,781,729 (GRCm39)	C64*	probably null	Het
Ccng2	G	A	5: 93,418,746 (GRCm39)	D124N	probably damaging	Het
Cttnbp2	G	A	6: 18,382,817 (GRCm39)	P1317L	probably damaging	Het
Dsg1a	T	A	18: 20,453,982 (GRCm39)	V29E	probably damaging	Het
Exoc6b	T	C	6: 84,885,208 (GRCm39)	K244E	probably benign	Het
Fastkd5	A	G	2: 130,456,605 (GRCm39)	F662L	probably benign	Het
Fbxl18	T	C	5: 142,871,580 (GRCm39)	M488V	probably damaging	Het
Gas2l3	C	T	10: 89,249,366 (GRCm39)	G584D	probably benign	Het
Gm28042	T	C	2: 119,869,519 (GRCm39)	F405L	possibly damaging	Het
Gtf3c2	T	C	5: 31,317,168 (GRCm39)	K635E	probably damaging	Het
H2-Q2	A	G	17: 35,561,654 (GRCm39)	Y48C	probably damaging	Het
Hddc2	T	C	10: 31,192,330 (GRCm39)	I78T	probably damaging	Het
Hspg2	T	A	4: 137,273,969 (GRCm39)	M2708K	probably benign	Het
Ift88	T	C	14: 57,677,189 (GRCm39)	S119P	probably benign	Het
Mta2	T	C	19: 8,925,668 (GRCm39)	C388R	probably damaging	Het
Mymx	G	T	17: 45,912,594 (GRCm39)		probably benign	Het
Naga	A	G	15: 82,214,861 (GRCm39)	Y366H	possibly damaging	Het
Nlrp9a	A	G	7: 26,257,006 (GRCm39)	E208G	probably damaging	Het
Nr4a2	C	T	2: 57,001,983 (GRCm39)	V94M	probably benign	Het
Or4c124	G	T	2: 89,156,368 (GRCm39)	T52K	probably benign	Het
Pitpnb	T	A	5: 111,486,222 (GRCm39)	V42D	probably damaging	Het
Pitrm1	A	G	13: 6,623,141 (GRCm39)	R801G	probably benign	Het
Pthlh	G	A	6: 147,154,073 (GRCm39)	T174M	probably benign	Het
Sco2	T	C	15: 89,255,924 (GRCm39)	I243M	probably benign	Het
Sema5a	G	A	15: 32,681,641 (GRCm39)	V907M	probably benign	Het
Semp2l1	A	G	1: 32,584,735 (GRCm39)	S392P	possibly damaging	Het
Spata31e2	T	C	1: 26,724,253 (GRCm39)	E309G	probably benign	Het
Stac2	T	A	11: 97,934,387 (GRCm39)	K106*	probably null	Het
Tas2r105	T	A	6: 131,663,815 (GRCm39)	R204S	probably damaging	Het
Tgm5	A	G	2: 120,877,156 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,893,312 (GRCm39)	I939V	probably damaging	Het
Ttll11	T	A	2: 35,674,205 (GRCm39)	N574I	probably damaging	Het
Zfand3	A	T	17: 30,354,374 (GRCm39)	T64S	probably benign	Het
Zfyve26	G	A	12: 79,307,644 (GRCm39)	H312Y	probably benign	Het

Other mutations in Osbpl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Osbpl8	APN	10	111,108,905 (GRCm39)	missense	probably benign	0.30
IGL00826:Osbpl8	APN	10	111,108,181 (GRCm39)	splice site	probably benign
IGL00839:Osbpl8	APN	10	111,127,371 (GRCm39)	missense	probably benign	0.01
IGL01338:Osbpl8	APN	10	111,103,608 (GRCm39)	missense	probably damaging	0.99
IGL01927:Osbpl8	APN	10	111,106,477 (GRCm39)	missense	probably benign	0.00
IGL02378:Osbpl8	APN	10	111,118,006 (GRCm39)	missense	possibly damaging	0.94
IGL02863:Osbpl8	APN	10	111,120,286 (GRCm39)	splice site	probably benign
IGL02933:Osbpl8	APN	10	111,117,991 (GRCm39)	missense	probably damaging	1.00
IGL03075:Osbpl8	APN	10	111,127,417 (GRCm39)	missense	probably benign	0.01
R0388:Osbpl8	UTSW	10	111,108,143 (GRCm39)	missense	probably benign
R0725:Osbpl8	UTSW	10	111,122,101 (GRCm39)	missense	possibly damaging	0.64
R1353:Osbpl8	UTSW	10	111,112,340 (GRCm39)	missense	probably damaging	0.97
R1434:Osbpl8	UTSW	10	111,127,442 (GRCm39)	missense	probably benign	0.01
R1803:Osbpl8	UTSW	10	111,110,910 (GRCm39)	missense	probably damaging	1.00
R1939:Osbpl8	UTSW	10	111,125,672 (GRCm39)	missense	probably benign	0.19
R2847:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2848:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2849:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2879:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2935:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R3693:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R4088:Osbpl8	UTSW	10	111,125,651 (GRCm39)	missense	possibly damaging	0.52
R4374:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4376:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4377:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4621:Osbpl8	UTSW	10	111,105,279 (GRCm39)	missense	probably benign	0.01
R4622:Osbpl8	UTSW	10	111,127,357 (GRCm39)	missense	probably benign	0.00
R4851:Osbpl8	UTSW	10	111,040,661 (GRCm39)	start codon destroyed	probably null	0.00
R5134:Osbpl8	UTSW	10	111,124,554 (GRCm39)	missense	probably benign	0.28
R5179:Osbpl8	UTSW	10	111,108,025 (GRCm39)	missense	probably benign	0.01
R5309:Osbpl8	UTSW	10	111,106,418 (GRCm39)	missense	probably benign	0.00
R5590:Osbpl8	UTSW	10	111,108,029 (GRCm39)	missense	probably damaging	0.98
R5783:Osbpl8	UTSW	10	111,103,644 (GRCm39)	nonsense	probably null
R6293:Osbpl8	UTSW	10	111,108,099 (GRCm39)	missense	possibly damaging	0.96
R6362:Osbpl8	UTSW	10	111,108,929 (GRCm39)	nonsense	probably null
R6527:Osbpl8	UTSW	10	111,129,066 (GRCm39)	missense	probably benign	0.23
R6751:Osbpl8	UTSW	10	111,110,874 (GRCm39)	missense	possibly damaging	0.67
R6851:Osbpl8	UTSW	10	111,106,479 (GRCm39)	nonsense	probably null
R6955:Osbpl8	UTSW	10	111,105,305 (GRCm39)	critical splice donor site	probably null
R7224:Osbpl8	UTSW	10	111,110,872 (GRCm39)	missense	possibly damaging	0.94
R7235:Osbpl8	UTSW	10	111,105,288 (GRCm39)	missense	probably benign
R7685:Osbpl8	UTSW	10	111,112,370 (GRCm39)	nonsense	probably null
R7988:Osbpl8	UTSW	10	111,107,941 (GRCm39)	missense	possibly damaging	0.67
R8055:Osbpl8	UTSW	10	111,120,255 (GRCm39)	missense	possibly damaging	0.68
R8458:Osbpl8	UTSW	10	111,113,177 (GRCm39)	missense	possibly damaging	0.81
R8777:Osbpl8	UTSW	10	111,128,974 (GRCm39)	missense	probably benign	0.01
R8777-TAIL:Osbpl8	UTSW	10	111,128,974 (GRCm39)	missense	probably benign	0.01
R8844:Osbpl8	UTSW	10	111,112,336 (GRCm39)	missense	probably damaging	1.00
R8948:Osbpl8	UTSW	10	111,103,530 (GRCm39)	missense	probably damaging	0.97
R8954:Osbpl8	UTSW	10	111,108,053 (GRCm39)	missense	probably benign	0.02
R8997:Osbpl8	UTSW	10	111,091,575 (GRCm39)	missense	probably benign	0.01
R9236:Osbpl8	UTSW	10	111,106,496 (GRCm39)	missense	probably benign	0.01
R9249:Osbpl8	UTSW	10	111,122,012 (GRCm39)	missense	probably benign	0.02
R9380:Osbpl8	UTSW	10	111,108,980 (GRCm39)	missense	probably damaging	0.99
R9394:Osbpl8	UTSW	10	111,127,375 (GRCm39)	nonsense	probably null
R9595:Osbpl8	UTSW	10	111,108,909 (GRCm39)	missense	probably damaging	0.99
RF007:Osbpl8	UTSW	10	111,112,328 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-06-21