Incidental Mutation 'R6174:Osbpl10'
| ID |
488206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114938555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 211
(S211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046627]
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000183104]
[ENSMUST00000183141]
|
| AlphaFold |
S4R1M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046627
AA Change: S36G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: S36G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
229 |
535 |
7.8e-70 |
PFAM |
|
Pfam:Oxysterol_BP
|
532 |
589 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182199
|
| SMART Domains |
Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-19 |
BLAST |
|
PDB:2D9X|A
|
1 |
42 |
2e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
7e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182384
AA Change: S72G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: S72G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-16 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-7 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-3 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
262 |
626 |
1.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183104
AA Change: S211G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: S211G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
75 |
N/A |
INTRINSIC |
|
PH
|
77 |
175 |
2.72e-15 |
SMART |
|
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
401 |
765 |
1.4e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183141
AA Change: S72G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: S72G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
3e-18 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-4 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,044,749 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,093,842 (GRCm39) |
Y651H |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,745,627 (GRCm39) |
S41P |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,242,895 (GRCm39) |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Osbpl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Osbpl10
|
APN |
9 |
115,005,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01318:Osbpl10
|
APN |
9 |
115,061,190 (GRCm39) |
nonsense |
probably null |
|
|
IGL02023:Osbpl10
|
APN |
9 |
115,055,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Osbpl10
|
APN |
9 |
115,046,062 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Weeblo
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Osbpl10
|
UTSW |
9 |
114,996,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Osbpl10
|
UTSW |
9 |
114,996,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Osbpl10
|
UTSW |
9 |
115,036,621 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Osbpl10
|
UTSW |
9 |
115,061,202 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3709:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3710:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4406:Osbpl10
|
UTSW |
9 |
114,938,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Osbpl10
|
UTSW |
9 |
115,045,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4778:Osbpl10
|
UTSW |
9 |
114,938,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Osbpl10
|
UTSW |
9 |
114,938,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Osbpl10
|
UTSW |
9 |
114,890,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5874:Osbpl10
|
UTSW |
9 |
115,055,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Osbpl10
|
UTSW |
9 |
114,896,383 (GRCm39) |
splice site |
probably null |
|
|
R6103:Osbpl10
|
UTSW |
9 |
114,890,940 (GRCm39) |
nonsense |
probably null |
|
|
R6246:Osbpl10
|
UTSW |
9 |
115,055,842 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7008:Osbpl10
|
UTSW |
9 |
114,890,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Osbpl10
|
UTSW |
9 |
115,052,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7182:Osbpl10
|
UTSW |
9 |
114,896,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Osbpl10
|
UTSW |
9 |
115,052,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Osbpl10
|
UTSW |
9 |
115,036,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Osbpl10
|
UTSW |
9 |
114,890,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7853:Osbpl10
|
UTSW |
9 |
115,036,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Osbpl10
|
UTSW |
9 |
114,891,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8100:Osbpl10
|
UTSW |
9 |
114,996,322 (GRCm39) |
missense |
probably benign |
|
|
R8376:Osbpl10
|
UTSW |
9 |
115,052,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Osbpl10
|
UTSW |
9 |
115,005,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8537:Osbpl10
|
UTSW |
9 |
115,058,977 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8706:Osbpl10
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9022:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9071:Osbpl10
|
UTSW |
9 |
114,890,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Osbpl10
|
UTSW |
9 |
114,996,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Osbpl10
|
UTSW |
9 |
115,061,211 (GRCm39) |
nonsense |
probably null |
|
|
R9729:Osbpl10
|
UTSW |
9 |
115,052,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9771:Osbpl10
|
UTSW |
9 |
114,896,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCACGCCCATACATGTG -3'
(R):5'- CTTCTCGTGCTGGAAGAACAG -3'
Sequencing Primer
(F):5'- CCATACATGTGAAAGGCAGCAGTC -3'
(R):5'- AGGCTGGGAGAGTACATCTATTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation