Incidental Mutation 'RF011:Osbpl3'
ID |
603203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl3
|
Ensembl Gene |
ENSMUSG00000029822 |
Gene Name |
oxysterol binding protein-like 3 |
Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF011 (G1)
|
Quality Score |
109.467 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
CCTGCA to C
at 50325118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000136926]
[ENSMUST00000146341]
[ENSMUST00000203907]
|
AlphaFold |
Q9DBS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071728
|
SMART Domains |
Protein: ENSMUSP00000071643 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
147 |
9.56e-11 |
SMART |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
low complexity region
|
392 |
425 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
459 |
804 |
3.2e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090019
|
SMART Domains |
Protein: ENSMUSP00000087473 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
147 |
9.56e-11 |
SMART |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Blast:PH
|
288 |
342 |
4e-25 |
BLAST |
low complexity region
|
459 |
492 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
526 |
870 |
3e-136 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114466
|
SMART Domains |
Protein: ENSMUSP00000110110 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
147 |
9.56e-11 |
SMART |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Blast:PH
|
288 |
342 |
3e-25 |
BLAST |
low complexity region
|
423 |
456 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
490 |
835 |
3.5e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114468
|
SMART Domains |
Protein: ENSMUSP00000110112 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
147 |
9.56e-11 |
SMART |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
low complexity region
|
428 |
461 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
495 |
840 |
1.3e-138 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136926
|
SMART Domains |
Protein: ENSMUSP00000144934 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
SCOP:d1btka_
|
50 |
75 |
5e-4 |
SMART |
Blast:PH
|
51 |
76 |
1e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146341
|
SMART Domains |
Protein: ENSMUSP00000114472 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
144 |
1.27e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203907
|
SMART Domains |
Protein: ENSMUSP00000145249 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
91 |
1e-57 |
BLAST |
low complexity region
|
208 |
241 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
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. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGCTG |
TGCTGTGGCGGCTG |
1: 82,891,307 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GCG |
GCGTCG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
Aqp2 |
T |
C |
15: 99,481,753 (GRCm39) |
S216P |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,721,009 (GRCm39) |
K672R |
possibly damaging |
Het |
Cacna1f |
GGA |
GGAAGA |
X: 7,486,295 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
CCA |
CCAGCA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
Cela2a |
T |
C |
4: 141,549,026 (GRCm39) |
N117D |
probably benign |
Het |
Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
A |
T |
7: 107,350,375 (GRCm39) |
S235R |
probably benign |
Het |
Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
TT |
TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT |
9: 20,821,440 (GRCm39) |
|
probably null |
Het |
E4f1 |
CCG |
CCGTCG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
Fam171b |
TCCAGCA |
TCCAGCACCAGCA |
2: 83,643,217 (GRCm39) |
|
probably benign |
Het |
Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
Flii |
G |
A |
11: 60,607,069 (GRCm39) |
A969V |
probably benign |
Het |
Fscb |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
12: 64,519,768 (GRCm39) |
|
probably benign |
Het |
Gas1 |
G |
GAAA |
13: 60,324,345 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,767,220 (GRCm39) |
D115G |
probably null |
Het |
Guca2b |
G |
T |
4: 119,514,044 (GRCm39) |
T89N |
possibly damaging |
Het |
Hcn4 |
T |
A |
9: 58,767,198 (GRCm39) |
S920T |
unknown |
Het |
Heatr1 |
A |
G |
13: 12,422,425 (GRCm39) |
M484V |
probably benign |
Het |
Iba57 |
G |
T |
11: 59,054,438 (GRCm39) |
A27E |
probably benign |
Het |
Ifi207 |
G |
C |
1: 173,556,687 (GRCm39) |
L684V |
not run |
Het |
Ints13 |
T |
C |
6: 146,457,738 (GRCm39) |
H380R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,055,978 (GRCm39) |
T466I |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Kif12 |
C |
CCTCCACCCGGCGGGG |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,543,457 (GRCm39) |
D1399E |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,367,648 (GRCm39) |
L2371Q |
probably damaging |
Het |
Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Mgam |
C |
A |
6: 40,734,370 (GRCm39) |
Q1472K |
probably damaging |
Het |
Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CGCCGC |
CGCCGCAGCCGC |
X: 98,864,967 (GRCm39) |
|
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,824,156 (GRCm39) |
N167D |
probably damaging |
Het |
Or4d10c |
C |
T |
19: 12,065,611 (GRCm39) |
V182I |
probably benign |
Het |
Or5be3 |
T |
A |
2: 86,864,385 (GRCm39) |
Y60F |
probably damaging |
Het |
Phf20 |
CCCCCCCCC |
CCCCCCCCCCCCCCCC |
2: 156,146,540 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCCCC |
CCCCCCCCCCCCCCC |
2: 156,146,541 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,281,878 (GRCm39) |
F445S |
probably damaging |
Het |
S100a10 |
TTTTTTTA |
T |
3: 93,471,541 (GRCm39) |
|
probably benign |
Het |
Sbp |
AA |
AAAATGCTGACAACGGA |
17: 24,164,328 (GRCm39) |
|
probably benign |
Het |
Sec14l3 |
A |
C |
11: 4,017,963 (GRCm39) |
Q81P |
possibly damaging |
Het |
Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,515 (GRCm39) |
|
probably benign |
Het |
Six3 |
CGG |
CGGGGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
Tox2 |
A |
G |
2: 163,067,484 (GRCm39) |
I68V |
probably benign |
Het |
Triml2 |
G |
T |
8: 43,636,201 (GRCm39) |
|
probably benign |
Het |
Tspan33 |
A |
G |
6: 29,716,729 (GRCm39) |
Y162C |
probably damaging |
Het |
Zfp384 |
GGCCCAGGCCCA |
GGCCCAGGCCCAAGCCCAGGCCCA |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,574 (GRCm39) |
Y589H |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,246,383 (GRCm39) |
I230V |
probably benign |
Het |
|
Other mutations in Osbpl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Osbpl3
|
APN |
6 |
50,300,048 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01784:Osbpl3
|
APN |
6 |
50,321,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02221:Osbpl3
|
APN |
6 |
50,304,347 (GRCm39) |
unclassified |
probably benign |
|
IGL02323:Osbpl3
|
APN |
6 |
50,323,306 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02894:Osbpl3
|
APN |
6 |
50,323,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
H8562:Osbpl3
|
UTSW |
6 |
50,324,446 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4283001:Osbpl3
|
UTSW |
6 |
50,323,068 (GRCm39) |
missense |
probably benign |
0.01 |
R0226:Osbpl3
|
UTSW |
6 |
50,329,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
R0417:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
R0601:Osbpl3
|
UTSW |
6 |
50,276,383 (GRCm39) |
missense |
probably benign |
0.05 |
R0826:Osbpl3
|
UTSW |
6 |
50,323,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R1390:Osbpl3
|
UTSW |
6 |
50,285,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Osbpl3
|
UTSW |
6 |
50,323,411 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1603:Osbpl3
|
UTSW |
6 |
50,300,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Osbpl3
|
UTSW |
6 |
50,313,193 (GRCm39) |
critical splice donor site |
probably null |
|
R1843:Osbpl3
|
UTSW |
6 |
50,347,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Osbpl3
|
UTSW |
6 |
50,297,054 (GRCm39) |
missense |
probably benign |
0.16 |
R3435:Osbpl3
|
UTSW |
6 |
50,325,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3768:Osbpl3
|
UTSW |
6 |
50,324,982 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4746:Osbpl3
|
UTSW |
6 |
50,305,654 (GRCm39) |
missense |
probably damaging |
0.99 |
R4751:Osbpl3
|
UTSW |
6 |
50,277,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4776:Osbpl3
|
UTSW |
6 |
50,277,953 (GRCm39) |
missense |
probably benign |
0.01 |
R4814:Osbpl3
|
UTSW |
6 |
50,329,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Osbpl3
|
UTSW |
6 |
50,286,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Osbpl3
|
UTSW |
6 |
50,329,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4999:Osbpl3
|
UTSW |
6 |
50,313,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R5512:Osbpl3
|
UTSW |
6 |
50,286,340 (GRCm39) |
missense |
probably damaging |
0.98 |
R6282:Osbpl3
|
UTSW |
6 |
50,325,063 (GRCm39) |
splice site |
probably null |
|
R6304:Osbpl3
|
UTSW |
6 |
50,289,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R6905:Osbpl3
|
UTSW |
6 |
50,328,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Osbpl3
|
UTSW |
6 |
50,274,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Osbpl3
|
UTSW |
6 |
50,297,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Osbpl3
|
UTSW |
6 |
50,323,410 (GRCm39) |
missense |
probably benign |
0.02 |
R7334:Osbpl3
|
UTSW |
6 |
50,321,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7368:Osbpl3
|
UTSW |
6 |
50,325,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8052:Osbpl3
|
UTSW |
6 |
50,322,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Osbpl3
|
UTSW |
6 |
50,280,089 (GRCm39) |
missense |
probably benign |
0.00 |
R8810:Osbpl3
|
UTSW |
6 |
50,328,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Osbpl3
|
UTSW |
6 |
50,304,371 (GRCm39) |
missense |
probably benign |
0.37 |
R9168:Osbpl3
|
UTSW |
6 |
50,329,762 (GRCm39) |
critical splice donor site |
probably null |
|
R9447:Osbpl3
|
UTSW |
6 |
50,321,857 (GRCm39) |
nonsense |
probably null |
|
R9476:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
R9510:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
R9788:Osbpl3
|
UTSW |
6 |
50,324,344 (GRCm39) |
critical splice donor site |
probably null |
|
Z1088:Osbpl3
|
UTSW |
6 |
50,274,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCAAGAGACTAACTGGGTAC -3'
(R):5'- GTCCTCCGAGACCACATAAATG -3'
Sequencing Primer
(F):5'- CTCAGACTTACTCCTGGCAAC -3'
(R):5'- GAAACCAAGACAGTACATGCAGTTTC -3'
|
Posted On |
2019-12-04 |