Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01927:Osbpl8'

180331

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 #

IGL01927

Quality Score

Status

Chromosome

Chromosomal Location

111000663-111133110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111106477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 295 (Y295H)

Ref Sequence

ENSEMBL: ENSMUSP00000100911 (fasta)

Gene Model

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

AlphaFold

B9EJ86

Predicted Effect

probably benign
Transcript: ENSMUST00000095310
AA Change: Y253H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: Y253H

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
AA Change: Y295H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: Y295H

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	G	2: 35,266,026 (GRCm39)	Y215H	probably damaging	Het
Acsm2	T	C	7: 119,177,435 (GRCm39)	F317L	possibly damaging	Het
Akr1d1	A	G	6: 37,541,394 (GRCm39)	D297G	probably benign	Het
Atp10b	A	G	11: 43,150,231 (GRCm39)		probably benign	Het
Atp8b4	T	C	2: 126,164,896 (GRCm39)	Y1140C	probably damaging	Het
Cap2	T	A	13: 46,789,109 (GRCm39)	S105T	probably benign	Het
Cspg5	A	T	9: 110,091,152 (GRCm39)	I414F	probably damaging	Het
Dipk1b	A	G	2: 26,526,127 (GRCm39)	M354V	probably benign	Het
Ereg	T	A	5: 91,234,671 (GRCm39)	V28E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Ift81	G	A	5: 122,731,192 (GRCm39)	T321M	probably benign	Het
Kcnip2	T	A	19: 45,784,044 (GRCm39)	Q95L	probably damaging	Het
Meis1	C	T	11: 18,831,811 (GRCm39)	R409H	probably benign	Het
Opa1	T	C	16: 29,405,813 (GRCm39)	I126T	probably benign	Het
Ppip5k2	A	T	1: 97,640,848 (GRCm39)	V1005E	probably damaging	Het
Prdm10	A	G	9: 31,246,694 (GRCm39)		probably benign	Het
Rptor	T	A	11: 119,548,500 (GRCm39)	V58E	probably damaging	Het
Togaram1	C	T	12: 65,023,476 (GRCm39)	A687V	probably benign	Het
Vmn2r1	T	C	3: 63,989,105 (GRCm39)	F15L	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r82	T	C	10: 79,213,906 (GRCm39)	L164P	probably damaging	Het
Zfp623	T	A	15: 75,819,354 (GRCm39)	N103K	possibly damaging	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
IGL01148:Osbpl8	APN	10	111,112,424 (GRCm39)	splice site	probably benign
IGL01338:Osbpl8	APN	10	111,103,608 (GRCm39)	missense	probably damaging	0.99
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

2014-05-07