Incidental Mutation 'R9236:Osbpl8'
| ID |
700494 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R9236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111106496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 301
(N301S)
|
| 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: N259S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: N259S
| 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: N301S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: N301S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,626,712 (GRCm39) |
T1514A |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,874,893 (GRCm39) |
|
probably null |
Het |
| Adam12 |
A |
C |
7: 133,614,022 (GRCm39) |
L109R |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,709,782 (GRCm39) |
Y146* |
probably null |
Het |
| Ap5m1 |
G |
T |
14: 49,311,064 (GRCm39) |
V45L |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,006,150 (GRCm39) |
I113F |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,600,424 (GRCm39) |
M1639K |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,051 (GRCm39) |
E974G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,428,125 (GRCm39) |
C980R |
probably damaging |
Het |
| Cggbp1 |
C |
T |
16: 64,676,318 (GRCm39) |
A128V |
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,789,684 (GRCm39) |
R898L |
unknown |
Het |
| Cycs |
C |
T |
6: 50,543,507 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,938 (GRCm39) |
Y68* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,876,970 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif2s1 |
A |
T |
12: 78,921,343 (GRCm39) |
I83L |
probably benign |
Het |
| Eppk1 |
T |
A |
15: 75,990,510 (GRCm39) |
R2124* |
probably null |
Het |
| Fkbp15 |
G |
C |
4: 62,254,664 (GRCm39) |
L279V |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,992,460 (GRCm39) |
V412A |
unknown |
Het |
| Gfap |
A |
G |
11: 102,786,327 (GRCm39) |
I194T |
probably damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,965,977 (GRCm39) |
T350K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,490,643 (GRCm39) |
G783D |
possibly damaging |
Het |
| Hipk1 |
A |
T |
3: 103,671,789 (GRCm39) |
W437R |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,809,396 (GRCm39) |
P1136S |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,368,221 (GRCm39) |
N130K |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,982,383 (GRCm39) |
I532V |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,261,066 (GRCm39) |
I1474K |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,186,772 (GRCm39) |
E371G |
unknown |
Het |
| Myo5b |
T |
A |
18: 74,853,934 (GRCm39) |
D1184E |
probably benign |
Het |
| N4bp2l2 |
T |
C |
5: 150,585,734 (GRCm39) |
H82R |
probably benign |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,479 (GRCm39) |
M167T |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,712 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,153 (GRCm39) |
V119E |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntmt1 |
T |
A |
2: 30,712,407 (GRCm39) |
L150Q |
probably damaging |
Het |
| Or5b99 |
G |
T |
19: 12,976,763 (GRCm39) |
V138F |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,033,206 (GRCm39) |
*315W |
probably null |
Het |
| Or8b40 |
A |
T |
9: 38,027,496 (GRCm39) |
M140L |
possibly damaging |
Het |
| Or8h7 |
C |
T |
2: 86,720,622 (GRCm39) |
S299N |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,839,003 (GRCm39) |
S51T |
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,009,345 (GRCm39) |
K88R |
probably damaging |
Het |
| Pnma8b |
A |
T |
7: 16,679,964 (GRCm39) |
D316V |
unknown |
Het |
| Pop1 |
C |
A |
15: 34,499,558 (GRCm39) |
P41Q |
probably damaging |
Het |
| Rcor1 |
A |
C |
12: 111,070,080 (GRCm39) |
K292N |
|
Het |
| Rps6kc1 |
C |
T |
1: 190,532,200 (GRCm39) |
D601N |
probably damaging |
Het |
| Sema7a |
A |
T |
9: 57,862,408 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,698,702 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,308 (GRCm39) |
T983A |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,194,158 (GRCm39) |
R213* |
probably null |
Het |
| Tbc1d2 |
G |
A |
4: 46,609,029 (GRCm39) |
T736I |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,703,550 (GRCm39) |
L1895R |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,594 (GRCm39) |
Y1289F |
probably damaging |
Het |
| Vmn1r70 |
G |
A |
7: 10,368,016 (GRCm39) |
C168Y |
probably damaging |
Het |
| Vtcn1 |
C |
A |
3: 100,795,533 (GRCm39) |
R167S |
probably benign |
Het |
| Zfp369 |
G |
A |
13: 65,445,010 (GRCm39) |
V718I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,032,354 (GRCm39) |
T529A |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,836,922 (GRCm39) |
N46D |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,342 (GRCm39) |
V461A |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,312 (GRCm39) |
N1024S |
probably benign |
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 |
|
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 |
|
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'- GGCCTCATTCATGGTCTTGC -3'
(R):5'- AGACACTCAGCTCACTTGTACC -3'
Sequencing Primer
(F):5'- GCTTCCCATCTGTCTTTAGGAAGG -3'
(R):5'- AGAGCCCTATGCCTGATTTATAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation