Incidental Mutation 'R5160:Osbpl7'
| ID |
396949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl7
|
| Ensembl Gene |
ENSMUSG00000038534 |
| Gene Name |
oxysterol binding protein-like 7 |
| Synonyms |
4933437E18Rik |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R5160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96945382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 81
(S81P)
|
| 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: S252P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: S252P
| 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: S81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: S81P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
| Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
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 |
|
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 |
|
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'- TGTGTGAAACAGTCAGGCGC -3'
(R):5'- GATACCCAGTCCTCTAGATTTCAG -3'
Sequencing Primer
(F):5'- CCACTCTGATGGTTGGCTGTTAAC -3'
(R):5'- TAGATTTCAGCTCCCGACAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation