Incidental Mutation 'IGL01318:Osbpl10'
| ID |
73946 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 115061190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 756
(W756*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046627]
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000183104]
|
| AlphaFold |
S4R1M9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046627
AA Change: W581*
|
| SMART Domains |
Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: W581*
| 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 |
probably null
Transcript: ENSMUST00000182384
AA Change: W617*
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: W617*
| 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 null
Transcript: ENSMUST00000183104
AA Change: W756*
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: W756*
| 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 |
|
| 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. 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Chaf1a |
G |
T |
17: 56,366,336 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Efhd2 |
T |
C |
4: 141,587,176 (GRCm39) |
N202S |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Mogs |
G |
T |
6: 83,095,558 (GRCm39) |
V792F |
probably damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,490 (GRCm39) |
L61P |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vinac1 |
C |
A |
2: 128,880,622 (GRCm39) |
V435L |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation