Incidental Mutation 'R9071:Osbpl10'
| ID |
689546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| MMRRC Submission |
068893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114890908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 99
(V99L)
|
| 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 benign
Transcript: ENSMUST00000183104
AA Change: V99L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: V99L
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
T |
7: 41,274,783 (GRCm39) |
R162L |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,584 (GRCm39) |
V469A |
probably damaging |
Het |
| Amotl2 |
G |
T |
9: 102,595,892 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,625,418 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
G |
T |
1: 87,683,907 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
C |
A |
12: 105,625,099 (GRCm39) |
E626* |
probably null |
Het |
| B3galt9 |
T |
C |
2: 34,728,435 (GRCm39) |
V78A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
A |
10: 41,457,174 (GRCm39) |
Q1588* |
probably null |
Het |
| Cd3d |
A |
T |
9: 44,896,340 (GRCm39) |
H43L |
probably benign |
Het |
| Cenpk |
C |
T |
13: 104,378,870 (GRCm39) |
Q164* |
probably null |
Het |
| Clybl |
C |
A |
14: 122,608,697 (GRCm39) |
D96E |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,546,939 (GRCm39) |
V511A |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,064,133 (GRCm39) |
I282N |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,818,542 (GRCm39) |
N1433D |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,159,121 (GRCm39) |
I516F |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,379 (GRCm39) |
T1030A |
probably benign |
Het |
| Cyp2d10 |
T |
C |
15: 82,288,361 (GRCm39) |
T313A |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,450,736 (GRCm39) |
N549K |
probably damaging |
Het |
| Ddx41 |
A |
G |
13: 55,680,219 (GRCm39) |
V391A |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,751,634 (GRCm39) |
D1227G |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,576,206 (GRCm39) |
Y286H |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,324 (GRCm39) |
D647G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,598 (GRCm39) |
V3750A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,178,364 (GRCm39) |
S14P |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,436,302 (GRCm39) |
V584A |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,764 (GRCm39) |
F325I |
unknown |
Het |
| Igfals |
A |
T |
17: 25,099,670 (GRCm39) |
I254F |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,705,803 (GRCm39) |
Y243H |
possibly damaging |
Het |
| Mki67 |
G |
C |
7: 135,301,205 (GRCm39) |
D1276E |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,709,364 (GRCm39) |
K62* |
probably null |
Het |
| Msto1 |
C |
A |
3: 88,812,414 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,448,420 (GRCm39) |
D697V |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,892,781 (GRCm39) |
V356E |
probably damaging |
Het |
| Nell2 |
T |
A |
15: 95,244,682 (GRCm39) |
K472* |
probably null |
Het |
| Nfe2l3 |
A |
C |
6: 51,434,243 (GRCm39) |
S268R |
probably benign |
Het |
| Or8b43 |
T |
C |
9: 38,361,032 (GRCm39) |
I288T |
possibly damaging |
Het |
| Plod2 |
A |
G |
9: 92,485,048 (GRCm39) |
I537M |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,729,076 (GRCm39) |
L770P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,771,803 (GRCm39) |
D371G |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,282,154 (GRCm39) |
K430R |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,573,603 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,196,052 (GRCm39) |
I317N |
possibly damaging |
Het |
| Spata4 |
T |
G |
8: 55,055,742 (GRCm39) |
F211C |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,433,982 (GRCm39) |
E929G |
probably benign |
Het |
| Sult1e1 |
A |
C |
5: 87,735,681 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
A |
T |
6: 132,887,400 (GRCm39) |
N263Y |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,370,224 (GRCm39) |
L456* |
probably null |
Het |
| Wdr20rt |
G |
A |
12: 65,274,222 (GRCm39) |
V562I |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,964 (GRCm39) |
*983Q |
probably null |
Het |
| Zfp28 |
T |
A |
7: 6,397,544 (GRCm39) |
C660S |
probably 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 |
|
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 |
|
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 |
|
|
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'- GGTCATGTTCCCAGCTTCTG -3'
(R):5'- ACACTGTGCAGCTGTTGAG -3'
Sequencing Primer
(F):5'- TGGCCTGCTAAAAACTCCTG -3'
(R):5'- ACGCCATCTCCAGAACGGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation