Incidental Mutation 'IGL03196:Osbpl9'
ID |
412826 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03196
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
108918342-109059469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108930061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 357
(V357I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030288]
[ENSMUST00000084366]
[ENSMUST00000159545]
[ENSMUST00000161363]
[ENSMUST00000194478]
[ENSMUST00000160271]
[ENSMUST00000162787]
[ENSMUST00000160774]
|
AlphaFold |
A2A8Z1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030288
AA Change: V374I
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030288 Gene: ENSMUSG00000028559 AA Change: V374I
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 damaging
Transcript: ENSMUST00000084366
AA Change: V277I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081396 Gene: ENSMUSG00000028559 AA Change: V277I
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: ENSMUST00000139412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159198
|
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161363
AA Change: V294I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125714 Gene: ENSMUSG00000028559 AA Change: V294I
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 |
possibly damaging
Transcript: ENSMUST00000194478
AA Change: V384I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141991 Gene: ENSMUSG00000028559 AA Change: V384I
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 |
possibly damaging
Transcript: ENSMUST00000160271
AA Change: V264I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124112 Gene: ENSMUSG00000028559 AA Change: V264I
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 |
possibly damaging
Transcript: ENSMUST00000162787
AA Change: V361I
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124370 Gene: ENSMUSG00000028559 AA Change: V361I
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 damaging
Transcript: ENSMUST00000160774
AA Change: V357I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124742 Gene: ENSMUSG00000028559 AA Change: V357I
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 |
|
Coding Region Coverage |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
probably benign |
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 |
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 |
R3111:Osbpl9
|
UTSW |
4 |
108,940,290 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
|
|
Posted On |
2016-08-02 |