Incidental Mutation 'R0534:Osbpl10'
| ID |
49374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| MMRRC Submission |
038726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0534 (G1)
|
| Quality Score |
133 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114996246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 139
(L139F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046627]
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000183104]
[ENSMUST00000183141]
|
| AlphaFold |
S4R1M9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046627
AA Change: L103F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: L103F
| 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 damaging
Transcript: ENSMUST00000182384
AA Change: L139F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: L139F
| 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 |
noncoding transcript
Transcript: ENSMUST00000182413
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183104
AA Change: L278F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: L278F
| 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 damaging
Transcript: ENSMUST00000183141
AA Change: L139F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: L139F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
| Ccdc110 |
T |
C |
8: 46,388,175 (GRCm39) |
V44A |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,962 (GRCm39) |
P280S |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
| Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
| E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
| Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,669,823 (GRCm39) |
C340* |
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,315,476 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
| Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
| Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
| Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
| Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
| Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
| P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,366,647 (GRCm39) |
M615V |
probably benign |
Het |
| Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
| Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
possibly damaging |
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 |
|
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 |
|
|
R6174:Osbpl10
|
UTSW |
9 |
114,938,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCTAACGCCCTCTTCAGGTCAGTG -3'
(R):5'- TGTGATGAGGACAACTGGACCAGC -3'
Sequencing Primer
(F):5'- GCCTCTGTCCAGCTCCAAAG -3'
(R):5'- AGGAGTCCAGCACTCACCT -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation