Incidental Mutation 'R1505:Osbpl6'
| ID |
169099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76409586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 483
(S483P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
| AlphaFold |
Q8BXR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077972
AA Change: S522P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: S522P
| 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: S514P
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: S514P
| 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: S483P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: S483P
| 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: S376P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: S376P
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
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 |
|
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 |
|
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'- TGCAACACCGCCGTCTTTCAAC -3'
(R):5'- ACAGCTCAGAGTCCCAGAGTCTTAG -3'
Sequencing Primer
(F):5'- TTTGGAGTCTCTAGACACAGCAG -3'
(R):5'- GGGCTTTACCCAAACTCTCAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation