Incidental Mutation 'R6751:Osbpl8'
ID |
530788 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
044868-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R6751 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111110874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 459
(Y459H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
AlphaFold |
B9EJ86 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095310
AA Change: Y417H
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092948 Gene: ENSMUSG00000020189 AA Change: Y417H
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 |
possibly damaging
Transcript: ENSMUST00000105275
AA Change: Y459H
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000100911 Gene: ENSMUSG00000020189 AA Change: Y459H
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (59/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,771,971 (GRCm39) |
N387Y |
probably damaging |
Het |
Abhd17a |
T |
C |
10: 80,422,421 (GRCm39) |
E87G |
probably damaging |
Het |
Aco1 |
T |
A |
4: 40,188,330 (GRCm39) |
|
probably null |
Het |
Adcy6 |
T |
C |
15: 98,494,086 (GRCm39) |
N817S |
probably benign |
Het |
Ak8 |
T |
A |
2: 28,599,957 (GRCm39) |
L63* |
probably null |
Het |
Arhgef28 |
G |
A |
13: 98,211,755 (GRCm39) |
S76L |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,966,261 (GRCm39) |
L891S |
possibly damaging |
Het |
Cacng5 |
C |
A |
11: 107,768,379 (GRCm39) |
M209I |
probably benign |
Het |
Casr |
T |
C |
16: 36,335,950 (GRCm39) |
I120V |
probably benign |
Het |
Ccnq |
T |
C |
11: 78,641,950 (GRCm39) |
Y180C |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,833,866 (GRCm39) |
Y1207H |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,883 (GRCm39) |
F144Y |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,348,391 (GRCm39) |
H362L |
probably damaging |
Het |
Dnaaf4 |
A |
G |
9: 72,869,257 (GRCm39) |
T156A |
probably benign |
Het |
Dym |
G |
A |
18: 75,419,718 (GRCm39) |
V630M |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,177,076 (GRCm39) |
V842E |
possibly damaging |
Het |
Dyrk1b |
C |
A |
7: 27,886,134 (GRCm39) |
P619Q |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,831,659 (GRCm39) |
D433G |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,561,086 (GRCm39) |
S1140R |
probably damaging |
Het |
Gabra5 |
T |
C |
7: 57,068,082 (GRCm39) |
R255G |
probably damaging |
Het |
Galnt17 |
T |
A |
5: 131,110,428 (GRCm39) |
I304F |
probably damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,363 (GRCm39) |
S322G |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,610,269 (GRCm39) |
N1467Y |
probably damaging |
Het |
Ifna6 |
T |
C |
4: 88,745,987 (GRCm39) |
L112P |
probably damaging |
Het |
Ifrd1 |
C |
T |
12: 40,253,913 (GRCm39) |
|
probably null |
Het |
Il17f |
A |
G |
1: 20,849,713 (GRCm39) |
M17T |
probably benign |
Het |
Itga11 |
G |
A |
9: 62,675,866 (GRCm39) |
V892I |
probably benign |
Het |
Nckap5l |
A |
G |
15: 99,321,042 (GRCm39) |
L1246P |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,243 (GRCm39) |
H467Q |
probably damaging |
Het |
Ntng2 |
A |
G |
2: 29,118,055 (GRCm39) |
V131A |
possibly damaging |
Het |
Or51r1 |
G |
A |
7: 102,227,706 (GRCm39) |
M1I |
probably null |
Het |
Or8b40 |
T |
G |
9: 38,027,271 (GRCm39) |
Y60D |
probably damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,784,976 (GRCm39) |
V135A |
probably benign |
Het |
Pabpc1 |
A |
T |
15: 36,597,778 (GRCm39) |
V537D |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,459,868 (GRCm39) |
M583L |
probably damaging |
Het |
Phlda1 |
T |
C |
10: 111,342,555 (GRCm39) |
V97A |
possibly damaging |
Het |
Pik3cb |
G |
T |
9: 98,976,574 (GRCm39) |
H174Q |
probably benign |
Het |
Plxdc2 |
A |
T |
2: 16,552,952 (GRCm39) |
I117F |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,362,303 (GRCm39) |
C298* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Rtkn2 |
T |
A |
10: 67,877,283 (GRCm39) |
F448I |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,500,617 (GRCm39) |
R221G |
probably damaging |
Het |
Serpina3c |
A |
G |
12: 104,117,759 (GRCm39) |
L193P |
probably damaging |
Het |
Sox12 |
T |
C |
2: 152,238,678 (GRCm39) |
Y314C |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,119,331 (GRCm39) |
S4560P |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,067,859 (GRCm39) |
E1772G |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,099,775 (GRCm39) |
V1570A |
probably benign |
Het |
Synrg |
T |
C |
11: 83,872,251 (GRCm39) |
F125S |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,494,919 (GRCm39) |
I1116F |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tfap2d |
C |
A |
1: 19,173,507 (GRCm39) |
H10N |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,312,428 (GRCm39) |
I1103T |
possibly damaging |
Het |
Vmn1r158 |
C |
T |
7: 22,489,306 (GRCm39) |
C301Y |
probably damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,428,719 (GRCm39) |
I516V |
probably benign |
Het |
Vmn2r71 |
G |
A |
7: 85,269,095 (GRCm39) |
|
probably null |
Het |
Vnn3 |
C |
T |
10: 23,745,523 (GRCm39) |
R491C |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,600,274 (GRCm39) |
Y911C |
probably damaging |
Het |
Zfp772 |
C |
T |
7: 7,206,716 (GRCm39) |
R325Q |
possibly damaging |
Het |
Zranb3 |
T |
A |
1: 127,887,556 (GRCm39) |
H957L |
probably benign |
Het |
Zscan20 |
G |
T |
4: 128,479,668 (GRCm39) |
T941K |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,373 (GRCm39) |
F346I |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGTAGTCAAAGTGAGTCAC -3'
(R):5'- AGACTCACATGCTGTCGAAAGC -3'
Sequencing Primer
(F):5'- GGTAGTCAAAGTGAGTCACTAAATTC -3'
(R):5'- GCTGTCGAAAGCACTGACC -3'
|
Posted On |
2018-08-01 |