Incidental Mutation 'R5786:Osbpl7'
| ID |
448034 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5786 (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 A
at 96956658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 567
(V567E)
|
| 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: V739E
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: V739E
| 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: V567E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: V567E
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
| 4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
| Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
| Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
| Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
| Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
| Dpyd |
G |
T |
3: 119,220,886 (GRCm39) |
M952I |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
| Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
| Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,631,286 (GRCm39) |
G227D |
probably benign |
Het |
| Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
| H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
| Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
| Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
| Kif19a |
T |
A |
11: 114,670,049 (GRCm39) |
Y81* |
probably null |
Het |
| Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
| Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
| Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
| Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
| Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
| Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
| Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
| Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
| Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
| Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ssc5d |
T |
C |
7: 4,939,817 (GRCm39) |
V751A |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,255,333 (GRCm39) |
N157S |
probably benign |
Het |
| Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
| Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
| Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
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 |
|
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'- CTTCTGGCAAGGTGAGGAATG -3'
(R):5'- ATGACCTCGTTAAGTCCTGC -3'
Sequencing Primer
(F):5'- TGTGGGGCTGAAGGACC -3'
(R):5'- CTGAAGCTTAGGGCTAGA -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation