Incidental Mutation 'PIT4504001:Osbpl11'
| ID |
556033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl11
|
| Ensembl Gene |
ENSMUSG00000022807 |
| Gene Name |
oxysterol binding protein-like 11 |
| Synonyms |
ORP-11 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
133.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33005441-33063682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33054864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 649
(V649D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039733]
[ENSMUST00000232100]
[ENSMUST00000232181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039733
AA Change: V649D
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: V649D
| 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 |
probably benign
Transcript: ENSMUST00000232100
AA Change: V643D
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232181
AA Change: V649D
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| 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. [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 |
|---|
| Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
| Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
| Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
possibly 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 |
|
|
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 |
|
R6274:Osbpl11
|
UTSW |
16 |
33,047,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTGATGCATCTGAGTGGTTAC -3'
(R):5'- TGTAAAGTGACTTAGTGACATGGC -3'
Sequencing Primer
(F):5'- CATCTGAGTGGTTACCTAGGACTC -3'
(R):5'- TGGCTTAACTAGACTGCAGAGCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation