Incidental Mutation 'R7008:Osbpl10'
| ID |
544842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| MMRRC Submission |
045110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114890916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 101
(D101E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000182920]
[ENSMUST00000183104]
[ENSMUST00000183141]
|
| AlphaFold |
S4R1M9 |
| 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 |
probably benign
Transcript: ENSMUST00000182384
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
| 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: ENSMUST00000182920
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183104
AA Change: D101E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: D101E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
| Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
| Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
| Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
| Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
| Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
| Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
| Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
| Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
| Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
| Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
| Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
| Odf2l |
A |
G |
3: 144,838,495 (GRCm39) |
K241E |
probably damaging |
Het |
| Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
| Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
| Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
| Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,612,561 (GRCm39) |
Y460C |
probably damaging |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,886 (GRCm39) |
M600R |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
| Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
| Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
| Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,535,005 (GRCm39) |
L721P |
probably benign |
Het |
| Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
| Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
| Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,355,421 (GRCm39) |
F216L |
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 |
|
|
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 |
|
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'- ATGCATCCCAGGATCCTCTC -3'
(R):5'- GTATCTCCCCACAGAAGAGC -3'
Sequencing Primer
(F):5'- AGGATCCTCTCTGCTATCACAG -3'
(R):5'- ACAACACTGTGCAGCTGTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation