Incidental Mutation 'IGL02933:Osbpl8'
ID364184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbpl8
Ensembl Gene ENSMUSG00000020189
Gene Nameoxysterol binding protein-like 8
SynonymsD330025H14Rik, ORP-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL02933
Quality Score
Status
Chromosome10
Chromosomal Location111164752-111297249 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111282130 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 578 (I578T)
Ref Sequence ENSEMBL: ENSMUSP00000100911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095310] [ENSMUST00000105275]
Predicted Effect probably damaging
Transcript: ENSMUST00000095310
AA Change: I536T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: I536T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000105275
AA Change: I578T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: I578T

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,363,012 S24Y possibly damaging Het
Adam15 T C 3: 89,343,483 T609A possibly damaging Het
Ank1 C T 8: 23,122,865 T1485I possibly damaging Het
Bbof1 A G 12: 84,426,966 N357D probably damaging Het
Btn1a1 A G 13: 23,460,527 F267S possibly damaging Het
C2cd2 A T 16: 97,892,201 F157I probably benign Het
Cd55 T C 1: 130,452,524 E239G probably damaging Het
Cnpy1 T A 5: 28,207,121 H138L probably benign Het
Cpne4 T C 9: 105,019,767 V373A possibly damaging Het
Dlg5 A T 14: 24,158,499 S880T probably benign Het
Etv1 C T 12: 38,781,833 T27I probably benign Het
Fam227b T A 2: 126,123,988 probably null Het
Flcn T C 11: 59,803,757 S130G probably damaging Het
Flvcr2 T C 12: 85,803,128 probably benign Het
Git1 C A 11: 77,501,076 H241Q probably damaging Het
Gm14496 T A 2: 182,000,463 H642Q probably benign Het
Idh1 C T 1: 65,161,913 S293N probably damaging Het
Itpr2 A G 6: 146,312,904 S1449P probably benign Het
Mmel1 T A 4: 154,883,630 L141Q probably damaging Het
Morn4 A G 19: 42,076,222 I109T probably benign Het
Mrgprh T C 17: 12,877,709 Y279H probably damaging Het
Olfr356 T A 2: 36,937,298 Y60N probably damaging Het
Reg2 A G 6: 78,407,934 Y153C probably damaging Het
Sall2 T C 14: 52,313,027 S902G probably benign Het
Sesn3 C T 9: 14,321,208 T259M probably damaging Het
Traf1 C A 2: 34,949,095 D73Y possibly damaging Het
Trnt1 G A 6: 106,773,426 G97D probably benign Het
Ttll11 T C 2: 35,979,410 H72R probably benign Het
Txndc12 T C 4: 108,857,996 probably null Het
Zan C A 5: 137,428,414 S2490I unknown Het
Zfp955a T C 17: 33,243,709 probably null Het
Zfyve26 A C 12: 79,280,080 S756R possibly damaging Het
Zmynd8 T C 2: 165,828,318 N412S possibly damaging Het
Other mutations in Osbpl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Osbpl8 APN 10 111273044 missense probably benign 0.30
IGL00826:Osbpl8 APN 10 111272320 splice site probably benign
IGL00839:Osbpl8 APN 10 111291510 missense probably benign 0.01
IGL01148:Osbpl8 APN 10 111276563 splice site probably benign
IGL01338:Osbpl8 APN 10 111267747 missense probably damaging 0.99
IGL01927:Osbpl8 APN 10 111270616 missense probably benign 0.00
IGL02378:Osbpl8 APN 10 111282145 missense possibly damaging 0.94
IGL02863:Osbpl8 APN 10 111284425 splice site probably benign
IGL03075:Osbpl8 APN 10 111291556 missense probably benign 0.01
R0388:Osbpl8 UTSW 10 111272282 missense probably benign
R0725:Osbpl8 UTSW 10 111286240 missense possibly damaging 0.64
R1353:Osbpl8 UTSW 10 111276479 missense probably damaging 0.97
R1434:Osbpl8 UTSW 10 111291581 missense probably benign 0.01
R1803:Osbpl8 UTSW 10 111275049 missense probably damaging 1.00
R1939:Osbpl8 UTSW 10 111289811 missense probably benign 0.19
R2847:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R2848:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R2849:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R2879:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R2935:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R3693:Osbpl8 UTSW 10 111269436 missense probably benign 0.27
R4088:Osbpl8 UTSW 10 111289790 missense possibly damaging 0.52
R4374:Osbpl8 UTSW 10 111269419 missense possibly damaging 0.93
R4376:Osbpl8 UTSW 10 111269419 missense possibly damaging 0.93
R4377:Osbpl8 UTSW 10 111269419 missense possibly damaging 0.93
R4621:Osbpl8 UTSW 10 111269418 missense probably benign 0.01
R4622:Osbpl8 UTSW 10 111291496 missense probably benign 0.00
R4851:Osbpl8 UTSW 10 111204800 start codon destroyed probably null 0.00
R5134:Osbpl8 UTSW 10 111288693 missense probably benign 0.28
R5179:Osbpl8 UTSW 10 111272164 missense probably benign 0.01
R5309:Osbpl8 UTSW 10 111270557 missense probably benign 0.00
R5590:Osbpl8 UTSW 10 111272168 missense probably damaging 0.98
R5783:Osbpl8 UTSW 10 111267783 nonsense probably null
R6293:Osbpl8 UTSW 10 111272238 missense possibly damaging 0.96
R6362:Osbpl8 UTSW 10 111273068 nonsense probably null
R6527:Osbpl8 UTSW 10 111293205 missense probably benign 0.23
R6751:Osbpl8 UTSW 10 111275013 missense possibly damaging 0.67
R6851:Osbpl8 UTSW 10 111270618 nonsense probably null
R6955:Osbpl8 UTSW 10 111269444 critical splice donor site probably null
R7224:Osbpl8 UTSW 10 111275011 missense possibly damaging 0.94
R7235:Osbpl8 UTSW 10 111269427 missense probably benign
R7685:Osbpl8 UTSW 10 111276509 nonsense probably null
R8055:Osbpl8 UTSW 10 111284394 missense possibly damaging 0.68
RF007:Osbpl8 UTSW 10 111276467 missense possibly damaging 0.94
Posted On2015-12-18