Incidental Mutation 'IGL01506:Osbpl7'
| ID |
89063 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl7
|
| Ensembl Gene |
ENSMUSG00000038534 |
| Gene Name |
oxysterol binding protein-like 7 |
| Synonyms |
4933437E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL01506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96943126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 126
(L126P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001485]
[ENSMUST00000054252]
[ENSMUST00000090020]
[ENSMUST00000168565]
|
| AlphaFold |
A2A716 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001485
|
| SMART Domains |
Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054252
|
| SMART Domains |
Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090020
AA Change: L126P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: L126P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
|
PH
|
174 |
270 |
7.76e-11 |
SMART |
|
low complexity region
|
533 |
551 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
599 |
947 |
4.6e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168565
|
| SMART Domains |
Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
99 |
7.76e-11 |
SMART |
|
Pfam:Oxysterol_BP
|
427 |
776 |
8.8e-140 |
PFAM |
|
| 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. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,447 (GRCm39) |
V2398A |
probably benign |
Het |
| Abhd2 |
T |
A |
7: 78,975,200 (GRCm39) |
I130N |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,430 (GRCm39) |
I35N |
probably benign |
Het |
| Car8 |
T |
A |
4: 8,169,761 (GRCm39) |
E249V |
probably damaging |
Het |
| Dpp8 |
A |
G |
9: 64,970,699 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,559 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,251 (GRCm39) |
V59A |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,835 (GRCm39) |
I154V |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Larp1b |
C |
A |
3: 40,987,875 (GRCm39) |
Y32* |
probably null |
Het |
| Magea4 |
G |
A |
X: 71,266,376 (GRCm39) |
D252N |
probably damaging |
Het |
| Mat1a |
C |
A |
14: 40,831,395 (GRCm39) |
A41E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,137,202 (GRCm39) |
V3190E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,674,082 (GRCm39) |
P249L |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,171 (GRCm39) |
I69V |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,470 (GRCm39) |
L382Q |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,802 (GRCm39) |
T403I |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,249,246 (GRCm39) |
Y9H |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,624 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
T |
16: 91,454,174 (GRCm39) |
I974L |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,881,309 (GRCm39) |
S618P |
probably benign |
Het |
| Syndig1 |
C |
T |
2: 149,741,677 (GRCm39) |
R88C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,893,329 (GRCm39) |
F944L |
probably damaging |
Het |
|
| Other mutations in Osbpl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02041:Osbpl7
|
APN |
11 |
96,951,334 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02322:Osbpl7
|
APN |
11 |
96,946,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02396:Osbpl7
|
APN |
11 |
96,946,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Osbpl7
|
APN |
11 |
96,958,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Osbpl7
|
APN |
11 |
96,958,031 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03003:Osbpl7
|
APN |
11 |
96,941,521 (GRCm39) |
missense |
probably benign |
|
|
R0377:Osbpl7
|
UTSW |
11 |
96,946,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0549:Osbpl7
|
UTSW |
11 |
96,958,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Osbpl7
|
UTSW |
11 |
96,951,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Osbpl7
|
UTSW |
11 |
96,946,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1845:Osbpl7
|
UTSW |
11 |
96,949,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Osbpl7
|
UTSW |
11 |
96,946,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2418:Osbpl7
|
UTSW |
11 |
96,950,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2571:Osbpl7
|
UTSW |
11 |
96,945,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Osbpl7
|
UTSW |
11 |
96,946,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Osbpl7
|
UTSW |
11 |
96,946,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Osbpl7
|
UTSW |
11 |
96,946,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Osbpl7
|
UTSW |
11 |
96,947,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Osbpl7
|
UTSW |
11 |
96,947,095 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4857:Osbpl7
|
UTSW |
11 |
96,947,495 (GRCm39) |
intron |
probably benign |
|
|
R4898:Osbpl7
|
UTSW |
11 |
96,950,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5160:Osbpl7
|
UTSW |
11 |
96,945,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Osbpl7
|
UTSW |
11 |
96,958,779 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5685:Osbpl7
|
UTSW |
11 |
96,951,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Osbpl7
|
UTSW |
11 |
96,956,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Osbpl7
|
UTSW |
11 |
96,943,087 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6030:Osbpl7
|
UTSW |
11 |
96,943,087 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6038:Osbpl7
|
UTSW |
11 |
96,941,542 (GRCm39) |
missense |
probably benign |
|
|
R6038:Osbpl7
|
UTSW |
11 |
96,941,542 (GRCm39) |
missense |
probably benign |
|
|
R6239:Osbpl7
|
UTSW |
11 |
96,943,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6715:Osbpl7
|
UTSW |
11 |
96,945,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Osbpl7
|
UTSW |
11 |
96,941,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7179:Osbpl7
|
UTSW |
11 |
96,941,662 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7222:Osbpl7
|
UTSW |
11 |
96,951,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Osbpl7
|
UTSW |
11 |
96,945,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7773:Osbpl7
|
UTSW |
11 |
96,941,548 (GRCm39) |
missense |
probably benign |
|
|
R7806:Osbpl7
|
UTSW |
11 |
96,946,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7884:Osbpl7
|
UTSW |
11 |
96,951,283 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8169:Osbpl7
|
UTSW |
11 |
96,945,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Osbpl7
|
UTSW |
11 |
96,947,405 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8341:Osbpl7
|
UTSW |
11 |
96,950,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Osbpl7
|
UTSW |
11 |
96,943,194 (GRCm39) |
missense |
probably benign |
|
|
R8738:Osbpl7
|
UTSW |
11 |
96,946,903 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0020:Osbpl7
|
UTSW |
11 |
96,947,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0060:Osbpl7
|
UTSW |
11 |
96,951,336 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Osbpl7
|
UTSW |
11 |
96,956,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Osbpl7
|
UTSW |
11 |
96,950,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation