Incidental Mutation 'R7884:Osbpl7'
ID |
608959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl7
|
Ensembl Gene |
ENSMUSG00000038534 |
Gene Name |
oxysterol binding protein-like 7 |
Synonyms |
4933437E18Rik |
MMRRC Submission |
045936-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R7884 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96941459-96959730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 96951283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 657
(I657L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090020]
[ENSMUST00000168565]
|
AlphaFold |
A2A716 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090020
AA Change: I657L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000087474 Gene: ENSMUSG00000038534 AA Change: I657L
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
AA Change: I485L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000126902 Gene: ENSMUSG00000038534 AA Change: I485L
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
T |
C |
16: 38,422,593 (GRCm39) |
T1158A |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,171,810 (GRCm39) |
E1530G |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,533,264 (GRCm39) |
F113S |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,011,418 (GRCm39) |
N2545S |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,943,476 (GRCm39) |
D49G |
probably benign |
Het |
Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm39) |
Y172F |
probably benign |
Het |
Ddx52 |
A |
G |
11: 83,842,911 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 50,026,474 (GRCm39) |
T1861A |
possibly damaging |
Het |
Dnah7c |
C |
T |
1: 46,830,929 (GRCm39) |
L3813F |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,307,307 (GRCm39) |
I68V |
probably damaging |
Het |
Etnk2 |
T |
C |
1: 133,293,438 (GRCm39) |
V127A |
possibly damaging |
Het |
Fank1 |
G |
C |
7: 133,478,554 (GRCm39) |
R206P |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,042,165 (GRCm39) |
I221T |
probably benign |
Het |
Fbxw27 |
G |
A |
9: 109,618,468 (GRCm39) |
R73* |
probably null |
Het |
Fndc1 |
A |
T |
17: 7,992,029 (GRCm39) |
S556T |
unknown |
Het |
Gnb3 |
T |
C |
6: 124,814,055 (GRCm39) |
T178A |
probably benign |
Het |
H2bc12 |
T |
C |
13: 22,220,225 (GRCm39) |
S57P |
probably damaging |
Het |
H2-M10.3 |
A |
T |
17: 36,677,174 (GRCm39) |
L326Q |
probably benign |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,393,344 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,387,057 (GRCm39) |
P995L |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,076,430 (GRCm39) |
G1068D |
|
Het |
Lats1 |
A |
T |
10: 7,573,290 (GRCm39) |
K125* |
probably null |
Het |
Lipg |
C |
T |
18: 75,081,078 (GRCm39) |
M334I |
probably damaging |
Het |
Loxhd1 |
A |
T |
18: 77,518,909 (GRCm39) |
E1905V |
probably damaging |
Het |
Lpin1 |
C |
T |
12: 16,612,370 (GRCm39) |
G544D |
|
Het |
Lyst |
A |
T |
13: 13,882,268 (GRCm39) |
N2853I |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,136,114 (GRCm39) |
I525T |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,261,216 (GRCm39) |
D170E |
probably benign |
Het |
Mrpl34 |
T |
C |
8: 71,917,911 (GRCm39) |
V28A |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,553,990 (GRCm39) |
V4101E |
unknown |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Myo1f |
A |
G |
17: 33,817,270 (GRCm39) |
Y771C |
probably damaging |
Het |
Nr2f1 |
G |
A |
13: 78,337,988 (GRCm39) |
T376I |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,461,068 (GRCm39) |
T2535A |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,825,556 (GRCm39) |
T428S |
probably benign |
Het |
Omd |
A |
G |
13: 49,743,630 (GRCm39) |
M227V |
probably damaging |
Het |
Pdgfrb |
T |
C |
18: 61,205,730 (GRCm39) |
V572A |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,445,624 (GRCm39) |
V537A |
probably benign |
Het |
Pou2f2 |
T |
C |
7: 24,815,489 (GRCm39) |
M93V |
probably benign |
Het |
Ppip5k2 |
T |
C |
1: 97,668,207 (GRCm39) |
T640A |
probably benign |
Het |
Ptar1 |
C |
T |
19: 23,686,158 (GRCm39) |
P157S |
probably benign |
Het |
Rapgef2 |
T |
A |
3: 78,973,933 (GRCm39) |
D1471V |
possibly damaging |
Het |
Rgs7 |
A |
T |
1: 174,977,216 (GRCm39) |
|
probably null |
Het |
Rhag |
A |
G |
17: 41,142,536 (GRCm39) |
Y247C |
probably benign |
Het |
Sardh |
A |
G |
2: 27,129,383 (GRCm39) |
I305T |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,633,617 (GRCm39) |
I372T |
probably benign |
Het |
Scn3a |
G |
T |
2: 65,366,859 (GRCm39) |
D54E |
probably damaging |
Het |
Senp2 |
A |
G |
16: 21,832,981 (GRCm39) |
T90A |
probably benign |
Het |
Serpinh1 |
C |
T |
7: 98,998,495 (GRCm39) |
R45H |
probably benign |
Het |
Siglecg |
T |
C |
7: 43,058,703 (GRCm39) |
V152A |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,174,337 (GRCm39) |
M1314L |
probably benign |
Het |
Slc23a1 |
A |
G |
18: 35,759,002 (GRCm39) |
F63S |
possibly damaging |
Het |
Slc25a40 |
T |
A |
5: 8,492,509 (GRCm39) |
L133Q |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,908,771 (GRCm39) |
E117G |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,669,212 (GRCm39) |
S1245P |
possibly damaging |
Het |
Tmem235 |
G |
A |
11: 117,755,033 (GRCm39) |
V162M |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,221,584 (GRCm39) |
T2774A |
probably benign |
Het |
Trav10n |
A |
T |
14: 53,359,587 (GRCm39) |
H6L |
probably benign |
Het |
Trav13d-3 |
G |
A |
14: 53,270,704 (GRCm39) |
W55* |
probably null |
Het |
Zfp654 |
G |
T |
16: 64,672,011 (GRCm39) |
A2E |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
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 |
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'- ATATAGCAGCCTCCTGGACCAG -3'
(R):5'- ATGCACTGACTCCACTGACC -3'
Sequencing Primer
(F):5'- CCTGGACCAGGCCAGCC -3'
(R):5'- ACCTTCTGGTCCCCACAG -3'
|
Posted On |
2019-12-20 |