Incidental Mutation 'R1275:Osbpl11'
| ID |
150874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl11
|
| Ensembl Gene |
ENSMUSG00000022807 |
| Gene Name |
oxysterol binding protein-like 11 |
| Synonyms |
ORP-11 |
| MMRRC Submission |
039341-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1275 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33005441-33063682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33006220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 16
(M16K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039733]
[ENSMUST00000232100]
[ENSMUST00000232181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039733
AA Change: M16K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: M16K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
PH
|
70 |
168 |
2.03e-14 |
SMART |
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
383 |
749 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232100
AA Change: M10K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232181
AA Change: M16K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdhr18 |
T |
C |
14: 13,896,949 (GRCm38) |
Y142C |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,339,483 (GRCm39) |
V793I |
probably benign |
Het |
| Coro1a |
C |
T |
7: 126,299,755 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efcab14 |
T |
G |
4: 115,613,670 (GRCm39) |
L206R |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,777,007 (GRCm39) |
|
probably null |
Het |
| Fosl2 |
C |
T |
5: 32,307,798 (GRCm39) |
R130W |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,104,314 (GRCm39) |
C233R |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,257,536 (GRCm39) |
T765A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,400,984 (GRCm39) |
|
probably null |
Het |
| Myo15b |
CGGAGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAGGAG |
11: 115,774,318 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,099 (GRCm39) |
E315G |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,060 (GRCm39) |
L91Q |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,534,015 (GRCm39) |
S48P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,235,366 (GRCm39) |
K3318R |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,680,631 (GRCm39) |
K108E |
possibly damaging |
Het |
|
| Other mutations in Osbpl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Osbpl11
|
APN |
16 |
33,062,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Osbpl11
|
APN |
16 |
33,047,221 (GRCm39) |
splice site |
probably benign |
|
|
IGL03009:Osbpl11
|
APN |
16 |
33,062,100 (GRCm39) |
splice site |
probably benign |
|
|
PIT4504001:Osbpl11
|
UTSW |
16 |
33,054,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0071:Osbpl11
|
UTSW |
16 |
33,034,708 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Osbpl11
|
UTSW |
16 |
33,034,708 (GRCm39) |
splice site |
probably benign |
|
|
R0472:Osbpl11
|
UTSW |
16 |
33,054,814 (GRCm39) |
nonsense |
probably null |
|
|
R0508:Osbpl11
|
UTSW |
16 |
33,016,465 (GRCm39) |
missense |
probably benign |
|
|
R0609:Osbpl11
|
UTSW |
16 |
33,054,814 (GRCm39) |
nonsense |
probably null |
|
|
R0715:Osbpl11
|
UTSW |
16 |
33,062,100 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Osbpl11
|
UTSW |
16 |
33,047,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Osbpl11
|
UTSW |
16 |
33,047,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Osbpl11
|
UTSW |
16 |
33,056,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Osbpl11
|
UTSW |
16 |
33,049,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Osbpl11
|
UTSW |
16 |
33,049,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1591:Osbpl11
|
UTSW |
16 |
33,030,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1752:Osbpl11
|
UTSW |
16 |
33,025,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Osbpl11
|
UTSW |
16 |
33,034,723 (GRCm39) |
missense |
probably benign |
|
|
R1916:Osbpl11
|
UTSW |
16 |
33,030,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1916:Osbpl11
|
UTSW |
16 |
33,006,213 (GRCm39) |
missense |
probably benign |
|
|
R4369:Osbpl11
|
UTSW |
16 |
33,045,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Osbpl11
|
UTSW |
16 |
33,016,452 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4873:Osbpl11
|
UTSW |
16 |
33,054,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Osbpl11
|
UTSW |
16 |
33,054,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6074:Osbpl11
|
UTSW |
16 |
33,030,335 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6274:Osbpl11
|
UTSW |
16 |
33,047,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Osbpl11
|
UTSW |
16 |
33,047,309 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7399:Osbpl11
|
UTSW |
16 |
33,056,649 (GRCm39) |
missense |
probably benign |
|
|
R7698:Osbpl11
|
UTSW |
16 |
33,054,817 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7814:Osbpl11
|
UTSW |
16 |
33,030,431 (GRCm39) |
nonsense |
probably null |
|
|
R7934:Osbpl11
|
UTSW |
16 |
33,056,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Osbpl11
|
UTSW |
16 |
33,034,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8904:Osbpl11
|
UTSW |
16 |
33,047,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Osbpl11
|
UTSW |
16 |
33,047,660 (GRCm39) |
missense |
|
|
|
R9328:Osbpl11
|
UTSW |
16 |
33,047,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Osbpl11
|
UTSW |
16 |
33,006,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Osbpl11
|
UTSW |
16 |
33,047,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCACTGTCGATTTCCACTCTAGC -3'
(R):5'- TTGGCCTTCCAACTGGGATATGC -3'
Sequencing Primer
(F):5'- GATTTCCACTCTAGCCGAGG -3'
(R):5'- TTCCAACTGGGATATGCAGACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation