Incidental Mutation 'IGL00485:Osbpl11'
| ID |
3978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl11
|
| Ensembl Gene |
ENSMUSG00000022807 |
| Gene Name |
oxysterol binding protein-like 11 |
| Synonyms |
ORP-11 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33005441-33063682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33062115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 741
(W741G)
|
| 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 damaging
Transcript: ENSMUST00000039733
AA Change: W741G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: W741G
| 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 |
noncoding transcript
Transcript: ENSMUST00000231617
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232100
AA Change: W735G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232181
AA Change: W741G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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. 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
G |
A |
11: 97,383,497 (GRCm39) |
|
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,656,942 (GRCm39) |
T41I |
probably damaging |
Het |
| Brms1 |
A |
C |
19: 5,099,070 (GRCm39) |
|
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Col4a2 |
A |
G |
8: 11,489,012 (GRCm39) |
M1133V |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,410,141 (GRCm39) |
Y314C |
probably damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,467 (GRCm39) |
M77K |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,758,328 (GRCm39) |
R817G |
unknown |
Het |
| Entrep1 |
G |
A |
19: 23,962,086 (GRCm39) |
R306W |
probably damaging |
Het |
| Ftdc2 |
A |
G |
16: 58,455,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,555,962 (GRCm39) |
S1725G |
possibly damaging |
Het |
| Hmgxb4 |
T |
C |
8: 75,756,131 (GRCm39) |
S545P |
probably damaging |
Het |
| Hrob |
C |
T |
11: 102,146,783 (GRCm39) |
S353F |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 65,002,522 (GRCm39) |
E1049G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,864,375 (GRCm39) |
V1424A |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,340,547 (GRCm39) |
V89A |
probably benign |
Het |
| Pam |
A |
G |
1: 97,750,678 (GRCm39) |
V914A |
possibly damaging |
Het |
| Phldb2 |
T |
A |
16: 45,577,551 (GRCm39) |
I1117F |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,525,448 (GRCm39) |
L460* |
probably null |
Het |
| Pramel31 |
G |
A |
4: 144,090,012 (GRCm39) |
V351I |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,238,842 (GRCm39) |
I196F |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,673,244 (GRCm39) |
S1044P |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,695 (GRCm39) |
T13A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,618,995 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,755,433 (GRCm39) |
I380T |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,872 (GRCm39) |
C229S |
probably benign |
Het |
|
| Other mutations in Osbpl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1275:Osbpl11
|
UTSW |
16 |
33,006,220 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation