Incidental Mutation 'IGL01450:Osbpl1a'
ID84596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbpl1a
Ensembl Gene ENSMUSG00000044252
Gene Nameoxysterol binding protein-like 1A
SynonymsLOC328902, G430090F17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01450
Quality Score
Status
Chromosome18
Chromosomal Location12755314-12941841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 12871095 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 422 (F422V)
Ref Sequence ENSEMBL: ENSMUSP00000073957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000119512] [ENSMUST00000155650]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074352
AA Change: F422V

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: F422V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000119512
AA Change: F30V

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: F30V

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000155650
SMART Domains Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252

DomainStartEndE-ValueType
coiled coil region 13 46 N/A INTRINSIC
Pfam:Oxysterol_BP 131 187 1.3e-23 PFAM
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,051,483 R143Q possibly damaging Het
Adh4 T A 3: 138,424,033 C207S probably benign Het
Akap8 C A 17: 32,315,687 R317L probably damaging Het
Aptx T C 4: 40,688,133 T182A probably damaging Het
Ccar2 A T 14: 70,139,751 probably benign Het
Cd300ld2 T A 11: 115,012,543 probably benign Het
Cgnl1 T C 9: 71,631,862 probably benign Het
Cubn A G 2: 13,350,862 probably benign Het
Cyp2j5 T A 4: 96,658,690 T196S probably damaging Het
Dctn1 T C 6: 83,194,110 probably benign Het
Dync2li1 A T 17: 84,633,556 T67S possibly damaging Het
Fetub A G 16: 22,929,236 N54S probably benign Het
Gpld1 T C 13: 24,979,681 Y486H probably damaging Het
Grb10 T A 11: 11,970,432 H62L probably damaging Het
H6pd T G 4: 149,984,118 H264P probably damaging Het
Lmtk2 T C 5: 144,174,702 S747P probably benign Het
Nkpd1 T C 7: 19,523,625 F293S probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Pclo A T 5: 14,677,193 probably benign Het
Phc3 G A 3: 30,914,504 R825C probably damaging Het
Plk2 G A 13: 110,396,324 V140M probably damaging Het
Racgap1 A G 15: 99,626,363 S388P probably benign Het
Rap1gds1 A T 3: 138,965,920 N146K probably damaging Het
Rgs7 C T 1: 175,086,180 V1M probably benign Het
Rps6ka5 A T 12: 100,552,991 probably benign Het
Scn4a A G 11: 106,324,661 I1163T probably damaging Het
Selenop C T 15: 3,277,273 T178M probably benign Het
Shank2 G T 7: 144,285,068 E680* probably null Het
Sipa1l2 A C 8: 125,422,577 probably null Het
Slc14a2 T C 18: 78,183,530 T437A probably damaging Het
Smarcc2 C T 10: 128,469,320 P307S probably damaging Het
Soga3 T A 10: 29,196,323 M537K probably damaging Het
Sptb C A 12: 76,624,240 R443L possibly damaging Het
Stpg3 T C 2: 25,214,610 probably benign Het
Tinag T A 9: 77,045,576 E42V possibly damaging Het
Topors C A 4: 40,262,417 R289L probably damaging Het
Ubash3a C A 17: 31,208,231 A38E probably damaging Het
Vmn2r121 T A X: 124,131,191 Y481F possibly damaging Het
Vps54 A T 11: 21,291,135 E359D probably benign Het
Xkr6 G A 14: 63,798,215 R255H probably damaging Het
Zfp750 C T 11: 121,513,029 R340H probably benign Het
Other mutations in Osbpl1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Osbpl1a APN 18 12757626 missense possibly damaging 0.51
IGL01062:Osbpl1a APN 18 12905075 missense probably benign
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 unclassified 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
X0027:Osbpl1a UTSW 18 12759503 missense possibly damaging 0.46
Posted On2013-11-11