Incidental Mutation 'R5807:Osbpl6'
| ID |
448568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
043393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R5807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76414857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 416
(D416G)
|
| 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: D562G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: D562G
| 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: D554G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: D554G
| 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: D523G
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: D523G
| 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 |
noncoding transcript
Transcript: ENSMUST00000124601
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184442
AA Change: D416G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: D416G
| 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 |
0.1229 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,651 (GRCm39) |
L943P |
probably damaging |
Het |
| Abcg5 |
C |
A |
17: 84,979,719 (GRCm39) |
V214F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,338,886 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,523,546 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,846,696 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,866,428 (GRCm39) |
I409T |
probably damaging |
Het |
| Atp5f1b |
G |
A |
10: 127,924,431 (GRCm39) |
|
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,495,454 (GRCm39) |
A660V |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,376 (GRCm39) |
T223A |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,211,353 (GRCm39) |
M507T |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,243,828 (GRCm39) |
S287P |
probably damaging |
Het |
| Chrna7 |
T |
A |
7: 62,798,349 (GRCm39) |
D111V |
probably damaging |
Het |
| Clxn |
A |
T |
16: 14,734,836 (GRCm39) |
I69F |
probably benign |
Het |
| Cnr2 |
A |
G |
4: 135,644,747 (GRCm39) |
D275G |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,158,144 (GRCm39) |
M305L |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,317,906 (GRCm39) |
D206V |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,101,944 (GRCm39) |
L453S |
probably damaging |
Het |
| Ddx52 |
T |
G |
11: 83,840,508 (GRCm39) |
S284A |
probably benign |
Het |
| Eif2ak4 |
G |
T |
2: 118,219,332 (GRCm39) |
R48L |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,561,175 (GRCm39) |
E303G |
possibly damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,114,933 (GRCm39) |
E23G |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,263 (GRCm39) |
S188P |
probably damaging |
Het |
| Fer1l6 |
C |
A |
15: 58,462,399 (GRCm39) |
S818* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,687,218 (GRCm39) |
D213G |
probably damaging |
Het |
| Gcg |
A |
G |
2: 62,306,069 (GRCm39) |
I176T |
possibly damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,279 (GRCm39) |
S109T |
probably benign |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Gm5070 |
C |
A |
3: 95,317,965 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8444 |
T |
C |
15: 81,727,654 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,356,198 (GRCm39) |
T117A |
probably damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,430 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
A |
7: 55,880,667 (GRCm39) |
F4766L |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,411 (GRCm39) |
E202* |
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,339,742 (GRCm39) |
T20I |
possibly damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,391 (GRCm39) |
D161G |
probably damaging |
Het |
| Krt84 |
T |
A |
15: 101,438,647 (GRCm39) |
K280M |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,895 (GRCm39) |
C199S |
unknown |
Het |
| Mrgprb3 |
A |
G |
7: 48,293,110 (GRCm39) |
V147A |
probably benign |
Het |
| Ndufs6 |
A |
T |
13: 73,475,553 (GRCm39) |
F48L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,970,476 (GRCm39) |
S2586G |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,759 (GRCm39) |
R299G |
probably benign |
Het |
| Or13c7b |
C |
A |
4: 43,820,912 (GRCm39) |
V150L |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Pdilt |
A |
G |
7: 119,099,766 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,913,252 (GRCm39) |
D401E |
probably benign |
Het |
| Pla2r1 |
C |
T |
2: 60,259,065 (GRCm39) |
V1108M |
possibly damaging |
Het |
| Prim2 |
A |
G |
1: 33,519,487 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,701,947 (GRCm39) |
H406R |
probably benign |
Het |
| Qpctl |
G |
T |
7: 18,877,132 (GRCm39) |
H329N |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,022,755 (GRCm39) |
N390Y |
probably damaging |
Het |
| Rnase1 |
A |
G |
14: 51,382,907 (GRCm39) |
V149A |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,434,192 (GRCm39) |
D581V |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,602,630 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,350,973 (GRCm39) |
M12T |
probably benign |
Het |
| Tmem38a |
A |
G |
8: 73,333,944 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,714,500 (GRCm39) |
T793I |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,443,211 (GRCm39) |
D384G |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,606,281 (GRCm39) |
Y398N |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9536:Osbpl6
|
UTSW |
2 |
76,416,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CATCCTGTAGAAGACACTCAGG -3'
(R):5'- GCCACCTGGATAGATTATGCAAAAG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TATGCAAAAGAGAAGCTATGAATACC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation