Incidental Mutation 'R6274:Osbpl11'
| ID |
507550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl11
|
| Ensembl Gene |
ENSMUSG00000022807 |
| Gene Name |
oxysterol binding protein-like 11 |
| Synonyms |
ORP-11 |
| MMRRC Submission |
044444-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33005441-33063682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33047426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 463
(I463N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039733]
[ENSMUST00000232100]
[ENSMUST00000232181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039733
AA Change: I463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: I463N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
PH
|
70 |
168 |
2.03e-14 |
SMART |
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
383 |
749 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231617
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232100
AA Change: I457N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232181
AA Change: I463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9356 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (56/56) |
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,172,600 (GRCm39) |
S528T |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Bcl2l10 |
T |
C |
9: 75,258,354 (GRCm39) |
I172T |
possibly damaging |
Het |
| Bpifb3 |
A |
T |
2: 153,771,243 (GRCm39) |
N385I |
possibly damaging |
Het |
| Bsnd |
A |
G |
4: 106,343,832 (GRCm39) |
V158A |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,016,783 (GRCm39) |
N481S |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,161 (GRCm39) |
V138A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,069 (GRCm39) |
E1099G |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,783,727 (GRCm39) |
L225Q |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,081,069 (GRCm39) |
Q7R |
probably benign |
Het |
| Clk4 |
A |
G |
11: 51,162,748 (GRCm39) |
S98G |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,385,000 (GRCm39) |
S406P |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,484,833 (GRCm39) |
I3178V |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,516,540 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,188 (GRCm39) |
L1421P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,785,152 (GRCm39) |
T91K |
probably damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,653,388 (GRCm39) |
C336S |
probably damaging |
Het |
| Hdac1 |
A |
G |
4: 129,412,902 (GRCm39) |
C261R |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,009,431 (GRCm39) |
S1471P |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,742,958 (GRCm39) |
V2134A |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,718,961 (GRCm39) |
Q310* |
probably null |
Het |
| Il3ra |
G |
A |
14: 14,350,180 (GRCm38) |
V112I |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,077,156 (GRCm39) |
I393V |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,872 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,809 (GRCm39) |
N24S |
probably null |
Het |
| Mmut |
T |
C |
17: 41,267,136 (GRCm39) |
V570A |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,216,943 (GRCm39) |
D1138G |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,560,631 (GRCm39) |
I125T |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,320,554 (GRCm39) |
L861Q |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,366,264 (GRCm39) |
R990L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,350,153 (GRCm39) |
D655G |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,774,427 (GRCm39) |
V79E |
probably benign |
Het |
| Or5b99 |
G |
A |
19: 12,977,234 (GRCm39) |
V295I |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,683,592 (GRCm39) |
R749W |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,614,831 (GRCm39) |
T231I |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,941,209 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
A |
6: 71,931,874 (GRCm39) |
|
probably null |
Het |
| Ppm1g |
T |
C |
5: 31,363,750 (GRCm39) |
I153V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,096,751 (GRCm39) |
S191P |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,898,922 (GRCm39) |
K178E |
possibly damaging |
Het |
| Rilpl2 |
A |
G |
5: 124,607,911 (GRCm39) |
V103A |
possibly damaging |
Het |
| Sap18b |
C |
T |
8: 96,552,169 (GRCm39) |
H60Y |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,583,951 (GRCm39) |
|
probably null |
Het |
| Serpinb1a |
G |
T |
13: 33,026,849 (GRCm39) |
H364Q |
probably damaging |
Het |
| Sez6l |
G |
A |
5: 112,623,231 (GRCm39) |
Q107* |
probably null |
Het |
| Sipa1l2 |
C |
T |
8: 126,196,611 (GRCm39) |
V708I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,757,573 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
| Usp9y |
C |
T |
Y: 1,316,735 (GRCm39) |
R1938H |
probably damaging |
Homo |
| Wnk4 |
C |
T |
11: 101,156,257 (GRCm39) |
R42W |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,053,846 (GRCm39) |
L242Q |
probably damaging |
Het |
|
| Other mutations in Osbpl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Osbpl11
|
APN |
16 |
33,062,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Osbpl11
|
APN |
16 |
33,047,221 (GRCm39) |
splice site |
probably benign |
|
|
IGL03009:Osbpl11
|
APN |
16 |
33,062,100 (GRCm39) |
splice site |
probably benign |
|
|
PIT4504001:Osbpl11
|
UTSW |
16 |
33,054,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0071:Osbpl11
|
UTSW |
16 |
33,034,708 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Osbpl11
|
UTSW |
16 |
33,034,708 (GRCm39) |
splice site |
probably benign |
|
|
R0472:Osbpl11
|
UTSW |
16 |
33,054,814 (GRCm39) |
nonsense |
probably null |
|
|
R0508:Osbpl11
|
UTSW |
16 |
33,016,465 (GRCm39) |
missense |
probably benign |
|
|
R0609:Osbpl11
|
UTSW |
16 |
33,054,814 (GRCm39) |
nonsense |
probably null |
|
|
R0715:Osbpl11
|
UTSW |
16 |
33,062,100 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Osbpl11
|
UTSW |
16 |
33,047,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Osbpl11
|
UTSW |
16 |
33,047,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1275:Osbpl11
|
UTSW |
16 |
33,006,220 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1459:Osbpl11
|
UTSW |
16 |
33,056,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Osbpl11
|
UTSW |
16 |
33,049,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Osbpl11
|
UTSW |
16 |
33,049,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1591:Osbpl11
|
UTSW |
16 |
33,030,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1752:Osbpl11
|
UTSW |
16 |
33,025,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Osbpl11
|
UTSW |
16 |
33,034,723 (GRCm39) |
missense |
probably benign |
|
|
R1916:Osbpl11
|
UTSW |
16 |
33,030,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1916:Osbpl11
|
UTSW |
16 |
33,006,213 (GRCm39) |
missense |
probably benign |
|
|
R4369:Osbpl11
|
UTSW |
16 |
33,045,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Osbpl11
|
UTSW |
16 |
33,016,452 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4873:Osbpl11
|
UTSW |
16 |
33,054,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Osbpl11
|
UTSW |
16 |
33,054,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6074:Osbpl11
|
UTSW |
16 |
33,030,335 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7007:Osbpl11
|
UTSW |
16 |
33,047,309 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7399:Osbpl11
|
UTSW |
16 |
33,056,649 (GRCm39) |
missense |
probably benign |
|
|
R7698:Osbpl11
|
UTSW |
16 |
33,054,817 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7814:Osbpl11
|
UTSW |
16 |
33,030,431 (GRCm39) |
nonsense |
probably null |
|
|
R7934:Osbpl11
|
UTSW |
16 |
33,056,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Osbpl11
|
UTSW |
16 |
33,034,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8904:Osbpl11
|
UTSW |
16 |
33,047,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Osbpl11
|
UTSW |
16 |
33,047,660 (GRCm39) |
missense |
|
|
|
R9328:Osbpl11
|
UTSW |
16 |
33,047,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Osbpl11
|
UTSW |
16 |
33,006,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Osbpl11
|
UTSW |
16 |
33,047,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAAGCGTTCCTTACTG -3'
(R):5'- AGTCCAGACATGTGCATTTACAC -3'
Sequencing Primer
(F):5'- CCTTACTGGAGATGTACGCAG -3'
(R):5'- TCTGCATAAAATCCTGAGACTGGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation