Incidental Mutation 'IGL01971:Osbp'
| ID |
182559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbp
|
| Ensembl Gene |
ENSMUSG00000024687 |
| Gene Name |
oxysterol binding protein |
| Synonyms |
1110018F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL01971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11943305-11971476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11967999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 636
(V636A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025590]
|
| AlphaFold |
Q3B7Z2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025590
AA Change: V636A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: V636A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
87 |
181 |
1.21e-21 |
SMART |
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
288 |
324 |
N/A |
INTRINSIC |
|
PDB:2RR3|B
|
344 |
377 |
3e-16 |
PDB |
|
Pfam:Oxysterol_BP
|
416 |
791 |
8.8e-146 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
| Ankmy2 |
A |
T |
12: 36,243,792 (GRCm39) |
K336* |
probably null |
Het |
| Areg |
A |
G |
5: 91,288,870 (GRCm39) |
T59A |
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,064 (GRCm39) |
I409N |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
G |
A |
8: 125,070,081 (GRCm39) |
V499M |
probably benign |
Het |
| Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
| Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
| Utp23 |
C |
A |
15: 51,745,671 (GRCm39) |
A57E |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
probably benign |
Het |
|
| Other mutations in Osbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0025:Osbp
|
UTSW |
19 |
11,961,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Osbp
|
UTSW |
19 |
11,961,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Osbp
|
UTSW |
19 |
11,951,223 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0764:Osbp
|
UTSW |
19 |
11,961,520 (GRCm39) |
splice site |
probably benign |
|
|
R1583:Osbp
|
UTSW |
19 |
11,955,193 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1808:Osbp
|
UTSW |
19 |
11,948,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Osbp
|
UTSW |
19 |
11,951,255 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2007:Osbp
|
UTSW |
19 |
11,951,265 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2291:Osbp
|
UTSW |
19 |
11,951,198 (GRCm39) |
nonsense |
probably null |
|
|
R3788:Osbp
|
UTSW |
19 |
11,956,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4082:Osbp
|
UTSW |
19 |
11,956,030 (GRCm39) |
missense |
probably benign |
|
|
R5240:Osbp
|
UTSW |
19 |
11,955,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Osbp
|
UTSW |
19 |
11,961,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Osbp
|
UTSW |
19 |
11,948,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5907:Osbp
|
UTSW |
19 |
11,951,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Osbp
|
UTSW |
19 |
11,955,317 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7226:Osbp
|
UTSW |
19 |
11,956,031 (GRCm39) |
missense |
probably benign |
|
|
R7950:Osbp
|
UTSW |
19 |
11,955,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9648:Osbp
|
UTSW |
19 |
11,943,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Osbp
|
UTSW |
19 |
11,955,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation