Incidental Mutation 'R9536:Osbpl6'
| ID |
719672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R9536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76416554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 691
(C691S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
| AlphaFold |
Q8BXR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077972
AA Change: C691S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: C691S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
550 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
603 |
951 |
1.4e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111929
AA Change: C683S
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: C683S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
coiled coil region
|
441 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
595 |
944 |
1.1e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111930
AA Change: C652S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: C652S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
PH
|
87 |
183 |
3.65e-7 |
SMART |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
|
coiled coil region
|
410 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
564 |
913 |
1e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184442
AA Change: C545S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: C545S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
70 |
8e-41 |
BLAST |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
coiled coil region
|
142 |
172 |
N/A |
INTRINSIC |
|
coiled coil region
|
303 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
457 |
794 |
2.6e-135 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,623 (GRCm39) |
L259F |
probably damaging |
Het |
| Adamts6 |
A |
C |
13: 104,489,313 (GRCm39) |
I389L |
probably benign |
Het |
| Adcy7 |
A |
T |
8: 89,053,026 (GRCm39) |
E974V |
possibly damaging |
Het |
| Agbl3 |
G |
T |
6: 34,823,861 (GRCm39) |
R847M |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,736,031 (GRCm39) |
Q3284H |
unknown |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,974,305 (GRCm39) |
E2336D |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,286,792 (GRCm39) |
S109P |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,749 (GRCm39) |
F578S |
probably damaging |
Het |
| Chid1 |
A |
G |
7: 141,093,755 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp26b1 |
T |
G |
6: 84,553,999 (GRCm39) |
D206A |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,758 (GRCm39) |
K334* |
probably null |
Het |
| Drd3 |
T |
C |
16: 43,637,368 (GRCm39) |
V189A |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,309,262 (GRCm39) |
I728T |
unknown |
Het |
| Frem3 |
G |
A |
8: 81,342,048 (GRCm39) |
G1447D |
probably benign |
Het |
| Gck |
T |
C |
11: 5,852,307 (GRCm39) |
D344G |
possibly damaging |
Het |
| Gimap9 |
T |
A |
6: 48,654,416 (GRCm39) |
M1K |
probably null |
Het |
| Glb1l3 |
T |
C |
9: 26,770,929 (GRCm39) |
T46A |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,918,861 (GRCm39) |
T198A |
unknown |
Het |
| Gphn |
T |
G |
12: 78,609,636 (GRCm39) |
S327A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,335,130 (GRCm39) |
S4356P |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,458,840 (GRCm39) |
M26K |
|
Het |
| Iqsec1 |
A |
G |
6: 90,666,659 (GRCm39) |
Y489H |
probably damaging |
Het |
| Lars1 |
T |
A |
18: 42,376,046 (GRCm39) |
R255* |
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,672,672 (GRCm39) |
H546Y |
probably damaging |
Het |
| Or2c1 |
T |
A |
16: 3,657,438 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or52a5b |
A |
T |
7: 103,416,779 (GRCm39) |
V275E |
probably damaging |
Het |
| Or5p61 |
T |
C |
7: 107,759,075 (GRCm39) |
I2V |
probably benign |
Het |
| Or6c33 |
G |
A |
10: 129,853,345 (GRCm39) |
M38I |
probably benign |
Het |
| Pcbp3 |
G |
A |
10: 76,599,225 (GRCm39) |
L304F |
possibly damaging |
Het |
| Pramel34 |
G |
C |
5: 93,784,289 (GRCm39) |
L392V |
probably damaging |
Het |
| Rpl5 |
T |
A |
5: 108,051,721 (GRCm39) |
S172T |
probably benign |
Het |
| Rps2 |
C |
T |
17: 24,940,851 (GRCm39) |
H297Y |
unknown |
Het |
| Scp2 |
A |
T |
4: 107,928,532 (GRCm39) |
V386E |
possibly damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,986,420 (GRCm39) |
V381E |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,711 (GRCm39) |
C258S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,147 (GRCm39) |
N151D |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,124,044 (GRCm39) |
I46F |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,764,123 (GRCm39) |
D243V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,739,017 (GRCm39) |
N3887Y |
unknown |
Het |
| Ubap2 |
A |
G |
4: 41,195,661 (GRCm39) |
S1020P |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,537 (GRCm39) |
M22L |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,703,253 (GRCm39) |
I240F |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,414,449 (GRCm39) |
P275L |
probably damaging |
Het |
| Zfp386 |
G |
A |
12: 116,023,686 (GRCm39) |
C468Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,312,345 (GRCm39) |
H89Q |
probably benign |
Het |
| Zfyve26 |
T |
A |
12: 79,298,046 (GRCm39) |
N1881I |
probably benign |
Het |
|
| Other mutations in Osbpl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Osbpl6
|
APN |
2 |
76,420,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01109:Osbpl6
|
APN |
2 |
76,379,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Osbpl6
|
APN |
2 |
76,395,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01717:Osbpl6
|
APN |
2 |
76,418,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Osbpl6
|
APN |
2 |
76,380,094 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02597:Osbpl6
|
APN |
2 |
76,386,318 (GRCm39) |
nonsense |
probably null |
|
|
IGL02652:Osbpl6
|
APN |
2 |
76,423,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Osbpl6
|
APN |
2 |
76,426,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL03143:Osbpl6
|
APN |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Osbpl6
|
UTSW |
2 |
76,416,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Osbpl6
|
UTSW |
2 |
76,423,758 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0201:Osbpl6
|
UTSW |
2 |
76,376,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0573:Osbpl6
|
UTSW |
2 |
76,420,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Osbpl6
|
UTSW |
2 |
76,425,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,422,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,415,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Osbpl6
|
UTSW |
2 |
76,380,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Osbpl6
|
UTSW |
2 |
76,385,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1505:Osbpl6
|
UTSW |
2 |
76,409,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Osbpl6
|
UTSW |
2 |
76,409,560 (GRCm39) |
missense |
probably benign |
|
|
R1786:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Osbpl6
|
UTSW |
2 |
76,415,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2235:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2256:Osbpl6
|
UTSW |
2 |
76,414,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Osbpl6
|
UTSW |
2 |
76,407,423 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3023:Osbpl6
|
UTSW |
2 |
76,417,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Osbpl6
|
UTSW |
2 |
76,415,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4546:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4664:Osbpl6
|
UTSW |
2 |
76,398,552 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4764:Osbpl6
|
UTSW |
2 |
76,376,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Osbpl6
|
UTSW |
2 |
76,379,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Osbpl6
|
UTSW |
2 |
76,354,429 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5430:Osbpl6
|
UTSW |
2 |
76,416,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Osbpl6
|
UTSW |
2 |
76,398,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Osbpl6
|
UTSW |
2 |
76,414,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5956:Osbpl6
|
UTSW |
2 |
76,379,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Osbpl6
|
UTSW |
2 |
76,386,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6430:Osbpl6
|
UTSW |
2 |
76,409,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Osbpl6
|
UTSW |
2 |
76,395,174 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7116:Osbpl6
|
UTSW |
2 |
76,426,225 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7385:Osbpl6
|
UTSW |
2 |
76,379,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Osbpl6
|
UTSW |
2 |
76,423,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Osbpl6
|
UTSW |
2 |
76,416,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Osbpl6
|
UTSW |
2 |
76,423,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Osbpl6
|
UTSW |
2 |
76,415,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Osbpl6
|
UTSW |
2 |
76,415,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Osbpl6
|
UTSW |
2 |
76,386,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8548:Osbpl6
|
UTSW |
2 |
76,409,566 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8682:Osbpl6
|
UTSW |
2 |
76,407,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8935:Osbpl6
|
UTSW |
2 |
76,379,800 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9157:Osbpl6
|
UTSW |
2 |
76,382,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9303:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Osbpl6
|
UTSW |
2 |
76,415,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9564:Osbpl6
|
UTSW |
2 |
76,426,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Osbpl6
|
UTSW |
2 |
76,425,191 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9585:Osbpl6
|
UTSW |
2 |
76,354,438 (GRCm39) |
missense |
probably benign |
|
|
R9771:Osbpl6
|
UTSW |
2 |
76,423,771 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9790:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Osbpl6
|
UTSW |
2 |
76,370,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z31818:Osbpl6
|
UTSW |
2 |
76,385,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGATCTGCAGCCCTCTAC -3'
(R):5'- CAGAATTTACACGCACTTCAAGG -3'
Sequencing Primer
(F):5'- CCCTCTACATGGATGGATGTACAG -3'
(R):5'- CGCACTTCAAGGGGGCAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation