Incidental Mutation 'R2233:Osbpl6'
| ID |
240155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
040234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R2233 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76417113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 577
(F577L)
|
| 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: F723L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: F723L
| 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: F715L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: F715L
| 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: F684L
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: F684L
| 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: F577L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: F577L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
| Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Ccdc24 |
T |
C |
4: 117,727,113 (GRCm39) |
K79R |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,271,888 (GRCm39) |
I1214V |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,313,343 (GRCm39) |
E6384G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,002 (GRCm39) |
T388A |
probably damaging |
Het |
| Gimap6 |
T |
A |
6: 48,681,418 (GRCm39) |
H72L |
possibly damaging |
Het |
| Gm11149 |
A |
G |
9: 49,473,446 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,658,510 (GRCm39) |
D385G |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,683,634 (GRCm39) |
D438E |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,953,582 (GRCm39) |
R756Q |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,524 (GRCm39) |
V1544I |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or9m1 |
G |
A |
2: 87,733,819 (GRCm39) |
S67F |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
| Prl7a1 |
C |
A |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Prss16 |
T |
C |
13: 22,193,579 (GRCm39) |
D72G |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,772,092 (GRCm39) |
K33E |
probably benign |
Het |
| Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rhobtb3 |
C |
A |
13: 76,020,484 (GRCm39) |
C606F |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc25a29 |
A |
T |
12: 108,801,587 (GRCm39) |
C9S |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,680,624 (GRCm39) |
T427A |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,293,897 (GRCm39) |
F211L |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,883,837 (GRCm39) |
S240F |
probably benign |
Het |
| Sun3 |
T |
A |
11: 8,973,371 (GRCm39) |
K109* |
probably null |
Het |
| Syne1 |
T |
C |
10: 4,991,484 (GRCm39) |
N8410S |
probably benign |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Tmem135 |
T |
C |
7: 88,803,282 (GRCm39) |
N297S |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
| Txnl4b |
A |
G |
8: 110,295,551 (GRCm39) |
|
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,955,162 (GRCm39) |
D12G |
probably benign |
Het |
| Zscan25 |
A |
G |
5: 145,220,502 (GRCm39) |
Y99C |
probably damaging |
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 |
|
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'- AATTTAGATGCTCCATTGCCCC -3'
(R):5'- GGGCTCAGCATCTCATTTCC -3'
Sequencing Primer
(F):5'- TCAGGAGTTCAAGGCCCATCTTAG -3'
(R):5'- GACATCACAGTTTCATAGTGAAGTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation