Incidental Mutation 'R4764:Osbpl6'
ID |
357077 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl6
|
Ensembl Gene |
ENSMUSG00000042359 |
Gene Name |
oxysterol binding protein-like 6 |
Synonyms |
1110062M20Rik, ORP-6 |
MMRRC Submission |
042405-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R4764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76376344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 73
(I73K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
AlphaFold |
Q8BXR9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077972
AA Change: I73K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077123 Gene: ENSMUSG00000042359 AA Change: I73K
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: I73K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107560 Gene: ENSMUSG00000042359 AA Change: I73K
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: I73K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107561 Gene: ENSMUSG00000042359 AA Change: I73K
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: ENSMUST00000128034
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184442
|
SMART Domains |
Protein: ENSMUSP00000139363 Gene: ENSMUSG00000042359
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 |
0.1525 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
G |
5: 146,122,029 (GRCm39) |
S18R |
probably benign |
Het |
2010315B03Rik |
A |
C |
9: 124,056,396 (GRCm39) |
V176G |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,765,732 (GRCm39) |
|
probably null |
Het |
Acad11 |
C |
A |
9: 103,953,076 (GRCm39) |
P102T |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,501,221 (GRCm39) |
D387V |
probably damaging |
Het |
Akr1c13 |
G |
A |
13: 4,248,496 (GRCm39) |
V234I |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Arl8a |
C |
A |
1: 135,074,837 (GRCm39) |
A41E |
probably benign |
Het |
Axin1 |
C |
A |
17: 26,392,730 (GRCm39) |
T337K |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,192,775 (GRCm39) |
L1353P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,934,520 (GRCm39) |
V2851E |
probably damaging |
Het |
C9 |
A |
T |
15: 6,489,124 (GRCm39) |
E160D |
probably damaging |
Het |
Cbx6 |
T |
C |
15: 79,712,881 (GRCm39) |
D182G |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,597,678 (GRCm39) |
R242G |
possibly damaging |
Het |
Chst8 |
T |
C |
7: 34,375,149 (GRCm39) |
D230G |
probably damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Cst12 |
A |
G |
2: 148,631,393 (GRCm39) |
E38G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,660 (GRCm39) |
A920E |
probably damaging |
Het |
Dtna |
T |
G |
18: 23,668,206 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
A |
14: 65,820,378 (GRCm39) |
H97L |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,314 (GRCm39) |
F18L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,769 (GRCm39) |
T138A |
probably benign |
Het |
Foxi2 |
G |
T |
7: 135,012,396 (GRCm39) |
G95C |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,907,426 (GRCm39) |
D811E |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,608,259 (GRCm39) |
E709V |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,436,200 (GRCm39) |
*499K |
probably null |
Het |
Galc |
C |
T |
12: 98,209,003 (GRCm39) |
G217D |
possibly damaging |
Het |
Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
T |
G |
3: 36,064,809 (GRCm39) |
*521C |
probably null |
Het |
Hnrnpul1 |
A |
G |
7: 25,442,436 (GRCm39) |
S269P |
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,457,496 (GRCm39) |
V259A |
probably benign |
Het |
Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
Mtf2 |
T |
C |
5: 108,241,218 (GRCm39) |
I248T |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,299,345 (GRCm39) |
T130M |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,485,880 (GRCm39) |
F653S |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,250,417 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
T |
9: 75,023,618 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,489 (GRCm39) |
D118V |
probably damaging |
Het |
Npat |
T |
C |
9: 53,483,920 (GRCm39) |
F1412S |
probably damaging |
Het |
Onecut3 |
G |
T |
10: 80,331,541 (GRCm39) |
A234S |
unknown |
Het |
Or1ad1 |
G |
A |
11: 50,875,602 (GRCm39) |
E25K |
probably benign |
Het |
Or8b37 |
T |
G |
9: 37,959,436 (GRCm39) |
L306R |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,943 (GRCm39) |
T1884I |
probably benign |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,999,868 (GRCm39) |
Y62H |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,809,687 (GRCm39) |
V97D |
possibly damaging |
Het |
Plekhf1 |
A |
G |
7: 37,921,022 (GRCm39) |
V182A |
probably damaging |
Het |
Plscr4 |
T |
C |
9: 92,366,833 (GRCm39) |
V149A |
probably damaging |
Het |
Polr2l |
A |
T |
7: 141,053,309 (GRCm39) |
L35Q |
probably damaging |
Het |
Ppp3ca |
T |
C |
3: 136,596,250 (GRCm39) |
I305T |
probably damaging |
Het |
Ptprg |
G |
A |
14: 12,122,068 (GRCm38) |
A311T |
probably benign |
Het |
Raet1e |
T |
G |
10: 22,057,231 (GRCm39) |
I185R |
probably damaging |
Het |
Rims1 |
A |
C |
1: 22,518,543 (GRCm39) |
V520G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,416,101 (GRCm39) |
D1670E |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,868 (GRCm39) |
I352N |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,418 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,563,376 (GRCm39) |
|
probably null |
Het |
Sall3 |
A |
G |
18: 81,017,691 (GRCm39) |
V79A |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,600,119 (GRCm39) |
V93M |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,819,390 (GRCm39) |
N197D |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,709,483 (GRCm39) |
R137* |
probably null |
Het |
Stxbp5 |
C |
A |
10: 9,646,367 (GRCm39) |
R115L |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,965,167 (GRCm39) |
R290H |
probably damaging |
Het |
Tmem132e |
A |
T |
11: 82,325,338 (GRCm39) |
T113S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,458 (GRCm39) |
I286N |
probably damaging |
Het |
Trio |
G |
A |
15: 27,732,624 (GRCm39) |
R3086* |
probably null |
Het |
Usp22 |
T |
A |
11: 61,051,462 (GRCm39) |
N294Y |
probably damaging |
Het |
Usp44 |
T |
A |
10: 93,681,933 (GRCm39) |
S128T |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,653,384 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,304,372 (GRCm39) |
Y1204C |
possibly 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 |
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 |
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'- TGGGAAACTCCTAGGAGCTTC -3'
(R):5'- CACACTCATAAACTCCAGTGATCTTTG -3'
Sequencing Primer
(F):5'- GGAGCTTCACTTGAAAGTCCATGAC -3'
(R):5'- TGTTTCCCACCTAATAGCAAGTCAG -3'
|
Posted On |
2015-11-11 |