Incidental Mutation 'R3746:Osbpl7'
| ID |
309819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl7
|
| Ensembl Gene |
ENSMUSG00000038534 |
| Gene Name |
oxysterol binding protein-like 7 |
| Synonyms |
4933437E18Rik |
| MMRRC Submission |
040732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R3746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96946879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 223
(V223A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090020]
[ENSMUST00000168565]
|
| AlphaFold |
A2A716 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090020
AA Change: V394A
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: V394A
| 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: V223A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: V223A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
99 |
7.76e-11 |
SMART |
|
Pfam:Oxysterol_BP
|
427 |
776 |
8.8e-140 |
PFAM |
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,754,284 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Eif3g |
G |
A |
9: 20,805,993 (GRCm39) |
R295C |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
| Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
| Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
| Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
| Opcml |
G |
A |
9: 28,812,826 (GRCm39) |
V173M |
possibly damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
| Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,763 (GRCm39) |
V738A |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTACTCTTCAACTTGGCAGACC -3'
(R):5'- AGACAGTCAGACTCCATTTCC -3'
Sequencing Primer
(F):5'- TCAACTTGGCAGACCTCAGTG -3'
(R):5'- AGACAGTCAGACTCCATTTCCTCATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation