Incidental Mutation 'IGL01084:Osbpl11'
| ID |
52899 |
| 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 # |
IGL01084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33005441-33063682 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 33047221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
| 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 benign
Transcript: ENSMUST00000232100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232181
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,546,901 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,216,656 (GRCm39) |
N341I |
probably benign |
Het |
| Arhgap40 |
T |
C |
2: 158,385,138 (GRCm39) |
F457S |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,387,800 (GRCm39) |
V360M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,969,839 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,840,313 (GRCm39) |
H2424Y |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,174,426 (GRCm39) |
E304G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,924,663 (GRCm39) |
C177* |
probably null |
Het |
| Epha5 |
G |
A |
5: 84,218,946 (GRCm39) |
R917* |
probably null |
Het |
| Gabra2 |
A |
G |
5: 71,163,576 (GRCm39) |
F244L |
probably damaging |
Het |
| Gars1 |
C |
A |
6: 55,032,812 (GRCm39) |
D261E |
probably benign |
Het |
| Gata3os |
A |
G |
2: 9,887,884 (GRCm39) |
|
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,691,976 (GRCm39) |
K98E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,904,110 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,679,245 (GRCm39) |
K300E |
probably benign |
Het |
| Mesp1 |
A |
G |
7: 79,442,831 (GRCm39) |
S149P |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,651 (GRCm39) |
V305A |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,397,186 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,924,884 (GRCm39) |
T1181A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,353 (GRCm39) |
L27Q |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,347 (GRCm39) |
S94P |
probably benign |
Het |
| Or9i16 |
G |
T |
19: 13,864,866 (GRCm39) |
T236N |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,691,451 (GRCm39) |
E267D |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,848,941 (GRCm39) |
E1049G |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,071,947 (GRCm39) |
|
probably null |
Het |
| Sec23b |
A |
G |
2: 144,406,509 (GRCm39) |
I101M |
possibly damaging |
Het |
| Srms |
A |
C |
2: 180,848,177 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,111,419 (GRCm39) |
T1067S |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem127 |
T |
C |
2: 127,099,006 (GRCm39) |
V180A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,184,826 (GRCm39) |
|
probably null |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,433 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,525 (GRCm39) |
L1350S |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,604,716 (GRCm39) |
Y730* |
probably null |
Het |
| Zfp583 |
A |
G |
7: 6,320,184 (GRCm39) |
F276S |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,921,780 (GRCm39) |
Y636H |
probably benign |
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 |
|
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 |
2013-06-21 |
Incidental Mutation