Incidental Mutation 'R0725:Osbpl8'
ID |
63659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
038907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R0725 (G1)
|
Quality Score |
106 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111122101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 681
(F681S)
|
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: F639S
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092948 Gene: ENSMUSG00000020189 AA Change: F639S
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: F681S
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000100911 Gene: ENSMUSG00000020189 AA Change: F681S
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 |
|
Meta Mutation Damage Score |
0.1970 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (70/70) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGACTGCAAACGCTGTGCTCTC -3'
(R):5'- TCGTGTGTCACATACACCAACCCAG -3'
Sequencing Primer
(F):5'- GTGAACATCTTGAGCTTTGCC -3'
(R):5'- GAATGCTTCCAACCCCACAAATG -3'
|
Posted On |
2013-07-30 |