Incidental Mutation 'R4192:Osbpl6'
| ID |
318342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76406508-76600647 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76585229 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 499
(L499Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
| AlphaFold |
Q8BXR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077972
AA Change: L645Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: L645Q
| 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 damaging
Transcript: ENSMUST00000111929
AA Change: L637Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: L637Q
| 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 damaging
Transcript: ENSMUST00000111930
AA Change: L606Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: L606Q
| 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 damaging
Transcript: ENSMUST00000184442
AA Change: L499Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: L499Q
| 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 |
|
| Meta Mutation Damage Score |
0.9596 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,043,174 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,242,524 (GRCm38) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,943,318 (GRCm38) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,483,292 (GRCm38) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,102,716 (GRCm38) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,847,271 (GRCm38) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,207,077 (GRCm38) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 121,030,089 (GRCm38) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,425,124 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,647,149 (GRCm38) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,007,998 (GRCm38) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,502,232 (GRCm38) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,481,511 (GRCm38) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,507,733 (GRCm38) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 128,064,732 (GRCm38) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,740,513 (GRCm38) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,473,042 (GRCm38) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,407,377 (GRCm38) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,605,534 (GRCm38) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm38) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,297,249 (GRCm38) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,983,017 (GRCm38) |
Q9L |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,258,741 (GRCm38) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,959 (GRCm38) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,925,470 (GRCm38) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,155,809 (GRCm38) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,708,378 (GRCm38) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,902,739 (GRCm38) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm38) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,447,681 (GRCm38) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,446,657 (GRCm38) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,401,437 (GRCm38) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,586,826 (GRCm38) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,215,827 (GRCm38) |
I14R |
probably damaging |
Het |
|
| Other mutations in Osbpl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Osbpl6
|
APN |
2 |
76,590,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01109:Osbpl6
|
APN |
2 |
76,549,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01288:Osbpl6
|
APN |
2 |
76,564,823 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01717:Osbpl6
|
APN |
2 |
76,588,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02146:Osbpl6
|
APN |
2 |
76,549,750 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02597:Osbpl6
|
APN |
2 |
76,555,974 (GRCm38) |
nonsense |
probably null |
|
|
IGL02652:Osbpl6
|
APN |
2 |
76,593,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02867:Osbpl6
|
APN |
2 |
76,595,870 (GRCm38) |
splice site |
probably benign |
|
|
IGL03143:Osbpl6
|
APN |
2 |
76,548,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
3-1:Osbpl6
|
UTSW |
2 |
76,586,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0085:Osbpl6
|
UTSW |
2 |
76,593,414 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0201:Osbpl6
|
UTSW |
2 |
76,546,042 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0573:Osbpl6
|
UTSW |
2 |
76,590,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0644:Osbpl6
|
UTSW |
2 |
76,594,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,591,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0855:Osbpl6
|
UTSW |
2 |
76,585,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1017:Osbpl6
|
UTSW |
2 |
76,549,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1459:Osbpl6
|
UTSW |
2 |
76,555,065 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1505:Osbpl6
|
UTSW |
2 |
76,579,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1588:Osbpl6
|
UTSW |
2 |
76,579,216 (GRCm38) |
missense |
probably benign |
|
|
R1786:Osbpl6
|
UTSW |
2 |
76,586,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1863:Osbpl6
|
UTSW |
2 |
76,585,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Osbpl6
|
UTSW |
2 |
76,586,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2132:Osbpl6
|
UTSW |
2 |
76,586,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2133:Osbpl6
|
UTSW |
2 |
76,586,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2233:Osbpl6
|
UTSW |
2 |
76,586,769 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2235:Osbpl6
|
UTSW |
2 |
76,586,769 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2256:Osbpl6
|
UTSW |
2 |
76,584,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2294:Osbpl6
|
UTSW |
2 |
76,577,079 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3023:Osbpl6
|
UTSW |
2 |
76,586,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4544:Osbpl6
|
UTSW |
2 |
76,584,492 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4546:Osbpl6
|
UTSW |
2 |
76,584,492 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4664:Osbpl6
|
UTSW |
2 |
76,568,208 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4764:Osbpl6
|
UTSW |
2 |
76,546,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4884:Osbpl6
|
UTSW |
2 |
76,549,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5080:Osbpl6
|
UTSW |
2 |
76,524,085 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5430:Osbpl6
|
UTSW |
2 |
76,586,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5614:Osbpl6
|
UTSW |
2 |
76,568,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5807:Osbpl6
|
UTSW |
2 |
76,584,513 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5956:Osbpl6
|
UTSW |
2 |
76,549,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6394:Osbpl6
|
UTSW |
2 |
76,555,954 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6430:Osbpl6
|
UTSW |
2 |
76,579,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6450:Osbpl6
|
UTSW |
2 |
76,564,830 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7116:Osbpl6
|
UTSW |
2 |
76,595,881 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7385:Osbpl6
|
UTSW |
2 |
76,549,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7422:Osbpl6
|
UTSW |
2 |
76,593,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7561:Osbpl6
|
UTSW |
2 |
76,586,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7829:Osbpl6
|
UTSW |
2 |
76,593,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Osbpl6
|
UTSW |
2 |
76,585,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8183:Osbpl6
|
UTSW |
2 |
76,585,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8219:Osbpl6
|
UTSW |
2 |
76,555,903 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8548:Osbpl6
|
UTSW |
2 |
76,579,222 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8682:Osbpl6
|
UTSW |
2 |
76,577,081 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8935:Osbpl6
|
UTSW |
2 |
76,549,456 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9157:Osbpl6
|
UTSW |
2 |
76,552,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9303:Osbpl6
|
UTSW |
2 |
76,548,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9305:Osbpl6
|
UTSW |
2 |
76,548,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9526:Osbpl6
|
UTSW |
2 |
76,585,259 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9536:Osbpl6
|
UTSW |
2 |
76,586,210 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9564:Osbpl6
|
UTSW |
2 |
76,595,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9571:Osbpl6
|
UTSW |
2 |
76,594,847 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9585:Osbpl6
|
UTSW |
2 |
76,524,094 (GRCm38) |
missense |
probably benign |
|
|
R9771:Osbpl6
|
UTSW |
2 |
76,593,427 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9790:Osbpl6
|
UTSW |
2 |
76,555,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9791:Osbpl6
|
UTSW |
2 |
76,555,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Osbpl6
|
UTSW |
2 |
76,540,179 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z31818:Osbpl6
|
UTSW |
2 |
76,555,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTATGAAGCCAGAGCGGG -3'
(R):5'- GAACAGGCCATGGAAACCTC -3'
Sequencing Primer
(F):5'- GGGAAGCATCACTCTCTCTG -3'
(R):5'- CGTGAGTAGCTTCCAATAAGAGTATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation