Incidental Mutation 'IGL02441:Osbpl7'
ID |
293965 |
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 # |
IGL02441
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96958528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 728
(Q728K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090020]
[ENSMUST00000168565]
|
AlphaFold |
A2A716 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090020
AA Change: Q900K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000087474 Gene: ENSMUSG00000038534 AA Change: Q900K
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: ENSMUST00000143360
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168565
AA Change: Q728K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126902 Gene: ENSMUSG00000038534 AA Change: Q728K
Domain | Start | End | E-Value | Type |
PH
|
3 |
99 |
7.76e-11 |
SMART |
Pfam:Oxysterol_BP
|
427 |
776 |
8.8e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183945
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg8 |
C |
T |
7: 97,029,504 (GRCm39) |
R179C |
probably benign |
Het |
Als2 |
A |
G |
1: 59,254,631 (GRCm39) |
M242T |
probably damaging |
Het |
Atad1 |
C |
T |
19: 32,684,348 (GRCm39) |
V17I |
probably benign |
Het |
Bag4 |
A |
G |
8: 26,258,136 (GRCm39) |
V397A |
probably damaging |
Het |
Brd7 |
A |
G |
8: 89,070,218 (GRCm39) |
V396A |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdhr4 |
T |
A |
9: 107,870,466 (GRCm39) |
I123N |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,189,186 (GRCm39) |
F609L |
probably benign |
Het |
Clec3b |
C |
A |
9: 122,980,178 (GRCm39) |
P24T |
possibly damaging |
Het |
Ctsg |
T |
A |
14: 56,339,869 (GRCm39) |
T9S |
probably benign |
Het |
Dalrd3 |
A |
T |
9: 108,448,725 (GRCm39) |
|
probably benign |
Het |
Dock6 |
A |
T |
9: 21,753,222 (GRCm39) |
V286E |
possibly damaging |
Het |
Dpep2 |
G |
A |
8: 106,711,723 (GRCm39) |
A568V |
probably benign |
Het |
Dph5 |
A |
C |
3: 115,720,390 (GRCm39) |
Q192P |
possibly damaging |
Het |
Eppin |
T |
A |
2: 164,433,698 (GRCm39) |
R37* |
probably null |
Het |
Esyt1 |
A |
G |
10: 128,348,293 (GRCm39) |
L865P |
possibly damaging |
Het |
Exoc6b |
A |
G |
6: 84,981,990 (GRCm39) |
L102P |
probably damaging |
Het |
Foxo6 |
A |
G |
4: 120,125,232 (GRCm39) |
I521T |
possibly damaging |
Het |
Guca1a |
A |
T |
17: 47,705,578 (GRCm39) |
|
probably benign |
Het |
Hpx |
A |
G |
7: 105,241,430 (GRCm39) |
F327S |
probably damaging |
Het |
Hspa12b |
A |
G |
2: 130,980,515 (GRCm39) |
M145V |
probably null |
Het |
Hspa4 |
A |
T |
11: 53,161,809 (GRCm39) |
S448T |
probably benign |
Het |
Kbtbd6 |
T |
C |
14: 79,690,759 (GRCm39) |
Y422H |
probably benign |
Het |
Lama4 |
A |
T |
10: 38,937,441 (GRCm39) |
D677V |
probably benign |
Het |
Ldb1 |
C |
T |
19: 46,024,195 (GRCm39) |
E111K |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,281,029 (GRCm39) |
S3823P |
probably damaging |
Het |
Man1a2 |
G |
A |
3: 100,499,189 (GRCm39) |
T415I |
probably benign |
Het |
Map3k2 |
T |
C |
18: 32,333,099 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
A |
2: 35,945,038 (GRCm39) |
Y87* |
probably null |
Het |
Mpp3 |
T |
C |
11: 101,900,501 (GRCm39) |
D326G |
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,336 (GRCm39) |
H137R |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,102,260 (GRCm39) |
P292T |
probably damaging |
Het |
Nlrp2 |
C |
A |
7: 5,338,566 (GRCm39) |
|
probably null |
Het |
Noxo1 |
G |
A |
17: 24,918,030 (GRCm39) |
S112N |
probably damaging |
Het |
Nudt9 |
G |
T |
5: 104,212,885 (GRCm39) |
K319N |
probably benign |
Het |
Or8b38 |
A |
T |
9: 37,973,233 (GRCm39) |
I206L |
probably benign |
Het |
Pcsk1 |
A |
T |
13: 75,280,282 (GRCm39) |
E702D |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,205,933 (GRCm39) |
D1492G |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,908,103 (GRCm39) |
K1007E |
possibly damaging |
Het |
Ppp6r3 |
G |
A |
19: 3,514,693 (GRCm39) |
P141S |
probably benign |
Het |
Prrt3 |
T |
C |
6: 113,473,977 (GRCm39) |
T354A |
probably damaging |
Het |
Ptk2 |
C |
A |
15: 73,192,675 (GRCm39) |
W181L |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,995,527 (GRCm39) |
H915Q |
probably benign |
Het |
Selenbp2 |
G |
T |
3: 94,611,371 (GRCm39) |
V361L |
probably benign |
Het |
Slamf7 |
A |
G |
1: 171,468,625 (GRCm39) |
L89P |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,937,505 (GRCm39) |
V599M |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,494,467 (GRCm39) |
S921I |
probably damaging |
Het |
Smc4 |
C |
A |
3: 68,913,544 (GRCm39) |
A44E |
probably damaging |
Het |
Tdrd5 |
A |
T |
1: 156,087,513 (GRCm39) |
|
probably benign |
Het |
Tead2 |
T |
A |
7: 44,866,845 (GRCm39) |
I68N |
probably damaging |
Het |
Tnks1bp1 |
T |
A |
2: 84,902,143 (GRCm39) |
S1680T |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,197,438 (GRCm39) |
V386A |
possibly damaging |
Het |
Tpx2 |
C |
A |
2: 152,724,207 (GRCm39) |
P328T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,576,332 (GRCm39) |
I24854F |
probably damaging |
Het |
Zbtb11 |
G |
A |
16: 55,794,552 (GRCm39) |
R43H |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,610,611 (GRCm39) |
L784S |
possibly damaging |
Het |
Zfp703 |
T |
C |
8: 27,470,036 (GRCm39) |
S567P |
probably damaging |
Het |
Zfp750 |
A |
G |
11: 121,404,455 (GRCm39) |
I140T |
probably benign |
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 |
IGL02396:Osbpl7
|
APN |
11 |
96,946,377 (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 |