Incidental Mutation 'IGL02396:Osbpl7'
ID |
294327 |
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: 0.194)
|
Stock # |
IGL02396
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 96946377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 158
(L158R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090020]
[ENSMUST00000168565]
|
AlphaFold |
A2A716 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090020
AA Change: L329R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087474 Gene: ENSMUSG00000038534 AA Change: L329R
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 damaging
Transcript: ENSMUST00000168565
AA Change: L158R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126902 Gene: ENSMUSG00000038534 AA Change: L158R
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
probably damaging |
Het |
|
Other mutations in Osbpl7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01506:Osbpl7
|
APN |
11 |
96,943,126 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2015-04-16 |