Incidental Mutation 'R3747:Osbpl7'
ID |
309886 |
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 # |
R3747 (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 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: 97.4%
- 20x: 95.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abhd18 |
A |
G |
3: 40,888,008 (GRCm39) |
N284S |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
Aga |
T |
A |
8: 53,970,856 (GRCm39) |
I192N |
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
Alk |
A |
G |
17: 72,218,560 (GRCm39) |
S762P |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Cby3 |
T |
C |
11: 50,250,501 (GRCm39) |
*236R |
probably null |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,881 (GRCm39) |
K380M |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
Dazap1 |
C |
T |
10: 80,123,498 (GRCm39) |
R391C |
possibly damaging |
Het |
Dgkh |
T |
A |
14: 78,821,885 (GRCm39) |
E876V |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
Fam43a |
C |
T |
16: 30,420,664 (GRCm39) |
T416I |
probably benign |
Het |
Fam90a1a |
C |
A |
8: 22,453,221 (GRCm39) |
S192* |
probably null |
Het |
Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
Garin4 |
T |
G |
1: 190,896,207 (GRCm39) |
Q145H |
probably damaging |
Het |
Gm10152 |
G |
A |
7: 144,316,937 (GRCm39) |
|
probably null |
Het |
Hipk3 |
T |
A |
2: 104,271,628 (GRCm39) |
R435* |
probably null |
Het |
Hnrnpab |
T |
A |
11: 51,493,473 (GRCm39) |
Y245F |
probably benign |
Het |
Islr2 |
A |
T |
9: 58,106,925 (GRCm39) |
S112T |
probably benign |
Het |
Itgb7 |
A |
T |
15: 102,131,212 (GRCm39) |
V280D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,507,817 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,234,182 (GRCm39) |
D51G |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,253,561 (GRCm39) |
P939L |
probably benign |
Het |
Ndst3 |
A |
G |
3: 123,465,201 (GRCm39) |
I257T |
probably benign |
Het |
Nolc1 |
CAG |
CAGAAG |
19: 46,069,795 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,785,041 (GRCm39) |
I2064T |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,810,435 (GRCm39) |
R90G |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Ppil4 |
A |
T |
10: 7,690,457 (GRCm39) |
Q370L |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
Rb1cc1 |
T |
G |
1: 6,318,966 (GRCm39) |
V778G |
possibly damaging |
Het |
Sgms1 |
A |
T |
19: 32,136,994 (GRCm39) |
S191T |
possibly damaging |
Het |
Sned1 |
T |
A |
1: 93,189,473 (GRCm39) |
F303Y |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,104,652 (GRCm39) |
M402K |
probably damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,871 (GRCm39) |
Y226H |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Yipf4 |
G |
A |
17: 74,803,667 (GRCm39) |
|
probably null |
Het |
Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
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 |
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'- ACTCTTCAACTTGGCAGACC -3'
(R):5'- GCCAGACAGTCAGACTCCATTTC -3'
Sequencing Primer
(F):5'- TCAACTTGGCAGACCTCAGTG -3'
(R):5'- AGACAGTCAGACTCCATTTCCTCATC -3'
|
Posted On |
2015-04-17 |