Incidental Mutation 'R3111:Osbpl9'
| ID |
263768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl9
|
| Ensembl Gene |
ENSMUSG00000028559 |
| Gene Name |
oxysterol binding protein-like 9 |
| Synonyms |
ORP-9, 2600011I06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3111 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108918342-109059469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108940290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 232
(I232V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030288]
[ENSMUST00000084366]
[ENSMUST00000161363]
[ENSMUST00000160271]
[ENSMUST00000160774]
[ENSMUST00000162787]
[ENSMUST00000194478]
[ENSMUST00000159545]
|
| AlphaFold |
A2A8Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030288
AA Change: I312V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: I312V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
8.5e-17 |
SMART |
|
low complexity region
|
253 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
362 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
377 |
729 |
7.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084366
AA Change: I215V
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: I215V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
265 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
277 |
634 |
7.2e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161363
AA Change: I232V
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: I232V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
13 |
34 |
3e-6 |
BLAST |
|
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
294 |
651 |
2.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160271
AA Change: I202V
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: I202V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
264 |
621 |
4.7e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160774
AA Change: I295V
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: I295V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
84 |
6.46e-8 |
SMART |
|
low complexity region
|
236 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
357 |
714 |
2.8e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162787
AA Change: I299V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: I299V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
8.5e-17 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
349 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
361 |
718 |
2.8e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194478
AA Change: I322V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: I322V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
3.7e-19 |
SMART |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
384 |
741 |
2e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159545
|
| SMART Domains |
Protein: ENSMUSP00000123856
Gene: ENSMUSG00000028559
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
3 |
54 |
6e-33 |
BLAST |
|
SCOP:d1pls__
|
4 |
46 |
9e-8 |
SMART |
|
PDB:2KCJ|A
|
4 |
55 |
1e-10 |
PDB |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
| 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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
| Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
Het |
|
| Other mutations in Osbpl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Osbpl9
|
APN |
4 |
108,929,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Osbpl9
|
APN |
4 |
108,944,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00809:Osbpl9
|
APN |
4 |
108,990,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Osbpl9
|
APN |
4 |
108,929,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Osbpl9
|
APN |
4 |
108,925,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL02822:Osbpl9
|
APN |
4 |
108,930,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Osbpl9
|
APN |
4 |
108,929,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Osbpl9
|
APN |
4 |
108,924,163 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03196:Osbpl9
|
APN |
4 |
108,930,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Osbpl9
|
APN |
4 |
109,029,529 (GRCm39) |
splice site |
probably benign |
|
|
IGL03323:Osbpl9
|
APN |
4 |
108,919,656 (GRCm39) |
splice site |
probably benign |
|
|
Oblong
|
UTSW |
4 |
108,948,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0211:Osbpl9
|
UTSW |
4 |
108,930,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Osbpl9
|
UTSW |
4 |
108,924,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Osbpl9
|
UTSW |
4 |
108,940,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Osbpl9
|
UTSW |
4 |
108,958,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Osbpl9
|
UTSW |
4 |
108,923,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Osbpl9
|
UTSW |
4 |
108,921,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Osbpl9
|
UTSW |
4 |
109,013,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Osbpl9
|
UTSW |
4 |
109,059,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Osbpl9
|
UTSW |
4 |
108,923,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Osbpl9
|
UTSW |
4 |
109,029,437 (GRCm39) |
intron |
probably benign |
|
|
R4672:Osbpl9
|
UTSW |
4 |
108,921,806 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4706:Osbpl9
|
UTSW |
4 |
109,013,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Osbpl9
|
UTSW |
4 |
108,925,564 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4886:Osbpl9
|
UTSW |
4 |
108,925,564 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5035:Osbpl9
|
UTSW |
4 |
108,923,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5309:Osbpl9
|
UTSW |
4 |
108,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Osbpl9
|
UTSW |
4 |
108,919,497 (GRCm39) |
nonsense |
probably null |
|
|
R5719:Osbpl9
|
UTSW |
4 |
108,919,763 (GRCm39) |
nonsense |
probably null |
|
|
R5810:Osbpl9
|
UTSW |
4 |
108,943,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6237:Osbpl9
|
UTSW |
4 |
109,013,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Osbpl9
|
UTSW |
4 |
108,930,129 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6648:Osbpl9
|
UTSW |
4 |
108,948,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6675:Osbpl9
|
UTSW |
4 |
108,991,025 (GRCm39) |
splice site |
probably null |
|
|
R7130:Osbpl9
|
UTSW |
4 |
108,940,296 (GRCm39) |
missense |
probably benign |
|
|
R7356:Osbpl9
|
UTSW |
4 |
108,925,677 (GRCm39) |
nonsense |
probably null |
|
|
R7615:Osbpl9
|
UTSW |
4 |
108,943,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Osbpl9
|
UTSW |
4 |
108,990,970 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7772:Osbpl9
|
UTSW |
4 |
108,923,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Osbpl9
|
UTSW |
4 |
108,919,691 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8083:Osbpl9
|
UTSW |
4 |
108,943,572 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8143:Osbpl9
|
UTSW |
4 |
108,922,906 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8323:Osbpl9
|
UTSW |
4 |
108,965,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8331:Osbpl9
|
UTSW |
4 |
108,923,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Osbpl9
|
UTSW |
4 |
108,921,770 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8531:Osbpl9
|
UTSW |
4 |
109,013,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Osbpl9
|
UTSW |
4 |
108,959,773 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8888:Osbpl9
|
UTSW |
4 |
108,930,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8895:Osbpl9
|
UTSW |
4 |
108,930,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9079:Osbpl9
|
UTSW |
4 |
108,920,644 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9379:Osbpl9
|
UTSW |
4 |
108,940,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9775:Osbpl9
|
UTSW |
4 |
109,013,747 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Osbpl9
|
UTSW |
4 |
108,965,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACATTGCCGGCACATTACC -3'
(R):5'- GTGGGCCCATCTCCTTAACTAC -3'
Sequencing Primer
(F):5'- GGCACATTACCAAACCTGATG -3'
(R):5'- CCCTAATTGAAAACCTTTGACTCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation