Incidental Mutation 'R6239:Osbpl7'
ID |
505134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl7
|
Ensembl Gene |
ENSMUSG00000038534 |
Gene Name |
oxysterol binding protein-like 7 |
Synonyms |
4933437E18Rik |
MMRRC Submission |
044363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R6239 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 96943650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001485]
[ENSMUST00000054252]
[ENSMUST00000090020]
[ENSMUST00000090020]
[ENSMUST00000168565]
[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 null
Transcript: ENSMUST00000090020
|
SMART Domains |
Protein: ENSMUSP00000087474 Gene: ENSMUSG00000038534
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 |
probably null
Transcript: ENSMUST00000090020
|
SMART Domains |
Protein: ENSMUSP00000087474 Gene: ENSMUSG00000038534
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 |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154084
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
T |
A |
1: 78,674,182 (GRCm39) |
S373T |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,344,550 (GRCm39) |
|
probably null |
Het |
Apol7c |
T |
C |
15: 77,410,631 (GRCm39) |
E105G |
probably benign |
Het |
B4galnt2 |
C |
T |
11: 95,767,065 (GRCm39) |
A184T |
probably damaging |
Het |
Castor1 |
A |
G |
11: 4,168,967 (GRCm39) |
T45A |
possibly damaging |
Het |
Casz1 |
A |
G |
4: 149,022,734 (GRCm39) |
Q600R |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,421,332 (GRCm39) |
S1133T |
probably benign |
Het |
Cep295 |
T |
C |
9: 15,233,927 (GRCm39) |
I2290V |
possibly damaging |
Het |
Clmn |
A |
T |
12: 104,747,104 (GRCm39) |
H814Q |
probably benign |
Het |
Creb3l1 |
A |
G |
2: 91,825,748 (GRCm39) |
C124R |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,466 (GRCm39) |
D1067G |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,609,361 (GRCm39) |
V354E |
probably benign |
Het |
Cyp2t4 |
A |
T |
7: 26,856,900 (GRCm39) |
Q280L |
possibly damaging |
Het |
Dcaf6 |
A |
T |
1: 165,178,839 (GRCm39) |
D563E |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,465,750 (GRCm39) |
F607L |
probably damaging |
Het |
Dennd2d |
T |
A |
3: 106,402,193 (GRCm39) |
F288I |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,029,333 (GRCm39) |
R4101C |
probably damaging |
Het |
Dnai4 |
A |
C |
4: 102,923,640 (GRCm39) |
N396K |
probably benign |
Het |
Dnase2a |
G |
T |
8: 85,635,508 (GRCm39) |
|
probably null |
Het |
Dnmbp |
C |
T |
19: 43,836,624 (GRCm39) |
V1235I |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,699,275 (GRCm39) |
D1826G |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,315 (GRCm39) |
Y337C |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,579 (GRCm39) |
E202D |
probably benign |
Het |
Fus |
C |
T |
7: 127,580,606 (GRCm39) |
R228C |
possibly damaging |
Het |
Gbf1 |
A |
G |
19: 46,248,135 (GRCm39) |
E304G |
probably benign |
Het |
Ggt1 |
A |
G |
10: 75,421,515 (GRCm39) |
|
probably null |
Het |
Gm19410 |
A |
T |
8: 36,245,918 (GRCm39) |
D354V |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,982,694 (GRCm39) |
D8G |
probably benign |
Het |
Hhat |
A |
T |
1: 192,277,395 (GRCm39) |
Y355N |
probably damaging |
Het |
Ift140 |
T |
C |
17: 25,247,946 (GRCm39) |
V268A |
probably benign |
Het |
Il4i1 |
A |
G |
7: 44,489,836 (GRCm39) |
R542G |
probably benign |
Het |
Itga2b |
C |
T |
11: 102,356,144 (GRCm39) |
V328I |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
A |
T |
3: 129,593,995 (GRCm39) |
I194N |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,872,717 (GRCm39) |
L2025P |
probably benign |
Het |
Neb |
T |
C |
2: 52,164,000 (GRCm39) |
N1986S |
probably benign |
Het |
Pabpc2 |
T |
A |
18: 39,906,891 (GRCm39) |
L52Q |
probably damaging |
Het |
Pald1 |
T |
C |
10: 61,156,910 (GRCm39) |
S847G |
possibly damaging |
Het |
Pcdh12 |
T |
C |
18: 38,415,454 (GRCm39) |
D557G |
probably damaging |
Het |
Prmt2 |
A |
T |
10: 76,058,425 (GRCm39) |
L128* |
probably null |
Het |
Ptpn3 |
C |
A |
4: 57,249,981 (GRCm39) |
A172S |
probably benign |
Het |
Ptpro |
A |
T |
6: 137,357,606 (GRCm39) |
T366S |
probably benign |
Het |
Reg4 |
A |
G |
3: 98,138,600 (GRCm39) |
K100R |
probably null |
Het |
Rims2 |
A |
T |
15: 39,061,758 (GRCm39) |
M1L |
unknown |
Het |
Sele |
A |
G |
1: 163,878,377 (GRCm39) |
S239G |
probably damaging |
Het |
Slc11a1 |
G |
A |
1: 74,423,274 (GRCm39) |
R375Q |
possibly damaging |
Het |
Slc13a3 |
T |
C |
2: 165,248,617 (GRCm39) |
T554A |
unknown |
Het |
Snw1 |
A |
T |
12: 87,511,398 (GRCm39) |
N84K |
probably damaging |
Het |
Stpg4 |
T |
C |
17: 87,718,667 (GRCm39) |
Y171C |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,926,388 (GRCm39) |
S1075T |
probably damaging |
Het |
Tmem222 |
T |
A |
4: 132,995,606 (GRCm39) |
H147L |
probably damaging |
Het |
Tmprss11f |
G |
T |
5: 86,681,636 (GRCm39) |
R206S |
probably damaging |
Het |
Trappc11 |
G |
A |
8: 47,982,529 (GRCm39) |
T70M |
possibly damaging |
Het |
Trpv4 |
G |
A |
5: 114,782,887 (GRCm39) |
T25I |
probably benign |
Het |
Ttr |
T |
C |
18: 20,806,692 (GRCm39) |
V114A |
possibly damaging |
Het |
Umod |
C |
T |
7: 119,076,520 (GRCm39) |
C82Y |
probably damaging |
Het |
Upk3a |
T |
A |
15: 84,905,515 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn1r59 |
G |
A |
7: 5,457,539 (GRCm39) |
P74S |
probably damaging |
Het |
Vwa3a |
A |
T |
7: 120,393,457 (GRCm39) |
R851S |
probably benign |
Het |
Zfp236 |
G |
T |
18: 82,675,229 (GRCm39) |
T421K |
possibly damaging |
Het |
Zswim9 |
C |
A |
7: 12,995,257 (GRCm39) |
G300* |
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACAGCCCTGGTATTCC -3'
(R):5'- GTTCTTTAAGCATTTCTAGACGATTTC -3'
Sequencing Primer
(F):5'- ACAGCCCTGGTATTCCTGTGTG -3'
(R):5'- TTGAACTCCTGACCTTCGGAAGAG -3'
|
Posted On |
2018-02-28 |