Incidental Mutation 'R6920:Osbpl7'
| ID |
539595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl7
|
| Ensembl Gene |
ENSMUSG00000038534 |
| Gene Name |
oxysterol binding protein-like 7 |
| Synonyms |
4933437E18Rik |
| MMRRC Submission |
045040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R6920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96941584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 36
(G36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001485]
[ENSMUST00000054252]
[ENSMUST00000090020]
[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 damaging
Transcript: ENSMUST00000090020
AA Change: G36S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: G36S
| 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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,773,811 (GRCm39) |
Y1000F |
probably damaging |
Het |
| 1700018B08Rik |
A |
G |
8: 122,262,160 (GRCm39) |
|
probably null |
Het |
| Aadat |
T |
C |
8: 60,982,467 (GRCm39) |
F245L |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,403,227 (GRCm39) |
L1575W |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,782,231 (GRCm39) |
T421S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,475,097 (GRCm39) |
I155N |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,397,932 (GRCm39) |
F572L |
probably damaging |
Het |
| Brip1 |
G |
A |
11: 86,039,362 (GRCm39) |
Q391* |
probably null |
Het |
| Brpf3 |
C |
A |
17: 29,042,970 (GRCm39) |
H1004N |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,768,250 (GRCm39) |
V465D |
possibly damaging |
Het |
| Card10 |
G |
T |
15: 78,686,609 (GRCm39) |
Y69* |
probably null |
Het |
| Catsperd |
A |
T |
17: 56,962,175 (GRCm39) |
K450* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,009 (GRCm39) |
L137P |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,990,107 (GRCm39) |
S1905P |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,507,601 (GRCm39) |
G2971S |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,379,496 (GRCm39) |
Y183H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,396 (GRCm39) |
Y167H |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,310 (GRCm39) |
K214R |
unknown |
Het |
| Fam180a |
T |
G |
6: 35,290,765 (GRCm39) |
I73L |
possibly damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,168,986 (GRCm39) |
H51N |
probably benign |
Het |
| Gm12728 |
T |
G |
4: 105,647,533 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,591,620 (GRCm39) |
C335R |
possibly damaging |
Het |
| Gpx8 |
A |
G |
13: 113,179,770 (GRCm39) |
V177A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,034,444 (GRCm39) |
Y1972D |
probably null |
Het |
| Igkv6-14 |
T |
C |
6: 70,412,116 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,576,602 (GRCm39) |
|
probably null |
Het |
| Klc1 |
T |
C |
12: 111,754,019 (GRCm39) |
S105P |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,798,701 (GRCm39) |
D469G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Mboat4 |
G |
A |
8: 34,591,865 (GRCm39) |
R434H |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,821,043 (GRCm39) |
K270E |
possibly damaging |
Het |
| Muc5ac |
G |
A |
7: 141,347,035 (GRCm39) |
C337Y |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,471 (GRCm39) |
V484A |
probably damaging |
Het |
| Noxa1 |
G |
T |
2: 24,981,844 (GRCm39) |
|
probably null |
Het |
| Or14c45 |
A |
G |
7: 86,176,522 (GRCm39) |
T186A |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,821 (GRCm39) |
L63H |
probably damaging |
Het |
| P4htm |
C |
T |
9: 108,460,812 (GRCm39) |
G220D |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,199 (GRCm39) |
I69V |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,015,795 (GRCm39) |
E250K |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,994 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,008,231 (GRCm39) |
G213V |
possibly damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,441,513 (GRCm39) |
S67P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,657,680 (GRCm39) |
F193S |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,117 (GRCm39) |
Y872C |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,132,921 (GRCm39) |
N218K |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,757,021 (GRCm39) |
F1028L |
probably damaging |
Het |
| Siglec1 |
G |
A |
2: 130,919,997 (GRCm39) |
Q845* |
probably null |
Het |
| Slc38a9 |
C |
T |
13: 112,838,060 (GRCm39) |
T275I |
possibly damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,497,470 (GRCm39) |
S481T |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,169,998 (GRCm39) |
N191K |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,757 (GRCm39) |
S2258C |
probably damaging |
Het |
| Tm7sf3 |
T |
G |
6: 146,507,645 (GRCm39) |
R472S |
possibly damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,576,494 (GRCm39) |
T119M |
probably benign |
Het |
| Traip |
C |
T |
9: 107,838,240 (GRCm39) |
R142* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,626,214 (GRCm39) |
N100D |
probably damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,575 (GRCm39) |
S292P |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,108 (GRCm39) |
I641F |
probably damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,912 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,510 (GRCm39) |
N110S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,642,057 (GRCm39) |
T928A |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,121,337 (GRCm39) |
K83N |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,982 (GRCm39) |
H737R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,940,714 (GRCm39) |
N795S |
probably benign |
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 |
|
|
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 |
|
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'- AGGAAATGGCCTTGAGTGTTC -3'
(R):5'- TTACCCCAGGATCCATGGAC -3'
Sequencing Primer
(F):5'- TTCACTGGGGTCAAGGCCATG -3'
(R):5'- ACGCCAGAGCCTCTTGATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation