Incidental Mutation 'R4590:Osbpl7'
| ID |
342767 |
| 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 # |
R4590 (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 96947098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 266
(S266R)
|
| 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: S437R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: S437R
| 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: S266R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: S266R
| 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: 97.2%
- 20x: 95.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
A |
18: 36,716,697 (GRCm39) |
D201E |
probably damaging |
Het |
| Ano10 |
T |
A |
9: 122,086,231 (GRCm39) |
Q398L |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,555,646 (GRCm39) |
L319* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,312,265 (GRCm39) |
M1575V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,949,862 (GRCm39) |
Y315* |
probably null |
Het |
| Cndp2 |
C |
A |
18: 84,687,933 (GRCm39) |
V353F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,028 (GRCm39) |
N298I |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,129,695 (GRCm39) |
C1173S |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,931,218 (GRCm39) |
M1993V |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,363,237 (GRCm39) |
V3933A |
probably damaging |
Het |
| Dnpep |
C |
A |
1: 75,293,045 (GRCm39) |
V76L |
probably damaging |
Het |
| Dsc3 |
A |
C |
18: 20,122,752 (GRCm39) |
C57W |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,028,564 (GRCm39) |
S222P |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,803,600 (GRCm39) |
Y1009C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,234,093 (GRCm39) |
I122V |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,364 (GRCm39) |
V211E |
probably damaging |
Het |
| Flvcr1 |
T |
C |
1: 190,744,343 (GRCm39) |
T402A |
probably benign |
Het |
| Frmd5 |
C |
T |
2: 121,595,512 (GRCm39) |
|
probably null |
Het |
| Fut2 |
T |
C |
7: 45,300,370 (GRCm39) |
N134S |
possibly damaging |
Het |
| Gm10110 |
A |
T |
14: 90,134,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7275 |
A |
T |
16: 47,893,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm904 |
T |
A |
13: 50,799,285 (GRCm39) |
C81* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,344,946 (GRCm39) |
V1913E |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,909,111 (GRCm39) |
|
probably null |
Het |
| Ift172 |
T |
C |
5: 31,411,299 (GRCm39) |
E1643G |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,468,040 (GRCm39) |
M1K |
probably null |
Het |
| Keap1 |
G |
T |
9: 21,148,905 (GRCm39) |
A34D |
probably damaging |
Het |
| Krt25 |
T |
C |
11: 99,208,854 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,865,410 (GRCm39) |
V2916A |
probably benign |
Het |
| Ly9 |
G |
A |
1: 171,421,443 (GRCm39) |
Q603* |
probably null |
Het |
| Mis18bp1 |
A |
C |
12: 65,205,280 (GRCm39) |
N14K |
possibly damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,937,797 (GRCm39) |
C265F |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,817,809 (GRCm39) |
E309K |
probably benign |
Het |
| Nrtn |
T |
C |
17: 57,058,504 (GRCm39) |
T166A |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,103 (GRCm39) |
|
probably null |
Het |
| Or8g50 |
T |
C |
9: 39,648,146 (GRCm39) |
F12L |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,549 (GRCm39) |
I293T |
probably damaging |
Het |
| Pes1 |
A |
G |
11: 3,927,986 (GRCm39) |
Y546C |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,551,339 (GRCm39) |
W587R |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,174,789 (GRCm39) |
Y147H |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,322 (GRCm39) |
L737* |
probably null |
Het |
| Rcor3 |
A |
T |
1: 191,810,217 (GRCm39) |
F153L |
probably damaging |
Het |
| Rev3l |
G |
A |
10: 39,682,929 (GRCm39) |
C349Y |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,695,889 (GRCm39) |
T225M |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,250,098 (GRCm39) |
V200A |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,372,917 (GRCm39) |
T653A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,775,858 (GRCm39) |
Y590H |
probably damaging |
Het |
| Sema4d |
T |
A |
13: 51,877,654 (GRCm39) |
K59N |
probably benign |
Het |
| Serpinb7 |
C |
A |
1: 107,379,563 (GRCm39) |
H323Q |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,969,020 (GRCm39) |
S466P |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,741,958 (GRCm39) |
M1011V |
probably damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,538 (GRCm39) |
P106L |
probably benign |
Het |
| Taf7 |
T |
C |
18: 37,775,784 (GRCm39) |
Q261R |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,152,553 (GRCm39) |
K71R |
possibly damaging |
Het |
| Tff3 |
C |
T |
17: 31,348,508 (GRCm39) |
V15I |
probably benign |
Het |
| Tgfb3 |
C |
A |
12: 86,124,589 (GRCm39) |
V40L |
possibly damaging |
Het |
| Timm10 |
T |
A |
2: 84,657,992 (GRCm39) |
D2E |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,663,753 (GRCm39) |
N74I |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,381,546 (GRCm39) |
T241I |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,260,603 (GRCm39) |
D992V |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,480 (GRCm39) |
T270S |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,728 (GRCm39) |
I504V |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,014 (GRCm39) |
H191N |
possibly damaging |
Het |
| Vnn1 |
C |
A |
10: 23,775,303 (GRCm39) |
F184L |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,393,032 (GRCm39) |
I466F |
probably damaging |
Het |
| Zfp352 |
A |
C |
4: 90,112,772 (GRCm39) |
D304A |
probably 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 |
|
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'- TTGGAGTCTCGGGACACTTC -3'
(R):5'- AACTGAAGGAGTCTGCCGTG -3'
Sequencing Primer
(F):5'- TCTCGGGACACTTCTGGCC -3'
(R):5'- AAGTCAGGGACAGCCTCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation