Incidental Mutation 'R8682:Osbpl6'
| ID |
661785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl6
|
| Ensembl Gene |
ENSMUSG00000042359 |
| Gene Name |
oxysterol binding protein-like 6 |
| Synonyms |
1110062M20Rik, ORP-6 |
| MMRRC Submission |
068537-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R8682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 76407425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 486
(H486D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
| AlphaFold |
Q8BXR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077972
AA Change: H486D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: H486D
| 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: H478D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: H478D
| 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: H447D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: H447D
| 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 benign
Transcript: ENSMUST00000184442
AA Change: H340D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: H340D
| 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: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,314,725 (GRCm39) |
L141Q |
probably null |
Het |
| Abtb2 |
A |
T |
2: 103,397,720 (GRCm39) |
T217S |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,769,005 (GRCm39) |
M172V |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,831,532 (GRCm39) |
V1194D |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,970 (GRCm39) |
S479P |
probably benign |
Het |
| Asah2 |
C |
T |
19: 32,030,277 (GRCm39) |
V132M |
probably damaging |
Het |
| Bmp10 |
A |
G |
6: 87,410,541 (GRCm39) |
|
probably null |
Het |
| Bsn |
T |
C |
9: 107,983,368 (GRCm39) |
Y790C |
|
Het |
| Cacna2d1 |
C |
A |
5: 16,558,837 (GRCm39) |
R732S |
possibly damaging |
Het |
| Casr |
A |
T |
16: 36,315,784 (GRCm39) |
F762Y |
possibly damaging |
Het |
| Cbln1 |
T |
C |
8: 88,198,735 (GRCm39) |
D45G |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,459,438 (GRCm39) |
M61K |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,377,348 (GRCm39) |
I433V |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,855,899 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,568,358 (GRCm39) |
K1622I |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,337,917 (GRCm39) |
D103G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,188,610 (GRCm39) |
H661Q |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,027 (GRCm39) |
T163A |
possibly damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,432 (GRCm39) |
L276* |
probably null |
Het |
| Fggy |
T |
A |
4: 95,700,358 (GRCm39) |
V343E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,646 (GRCm39) |
Y288H |
probably benign |
Het |
| Grtp1 |
G |
A |
8: 13,229,499 (GRCm39) |
R272W |
probably damaging |
Het |
| H2-Aa |
A |
G |
17: 34,502,734 (GRCm39) |
I144T |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,370,130 (GRCm39) |
D469G |
|
Het |
| Hsf2 |
G |
A |
10: 57,381,267 (GRCm39) |
E286K |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,035,798 (GRCm39) |
E163G |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,793,976 (GRCm39) |
I224T |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,642,673 (GRCm39) |
I204F |
possibly damaging |
Het |
| Kcnj9 |
A |
T |
1: 172,153,680 (GRCm39) |
M148K |
possibly damaging |
Het |
| Lepr |
T |
G |
4: 101,649,269 (GRCm39) |
V890G |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,965,962 (GRCm39) |
D612G |
probably benign |
Het |
| Myl2 |
T |
A |
5: 122,244,798 (GRCm39) |
V156D |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,136,857 (GRCm39) |
W3208L |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,295 (GRCm39) |
Y511C |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,717,669 (GRCm39) |
R235S |
probably damaging |
Het |
| Obox2 |
C |
A |
7: 15,130,912 (GRCm39) |
T48K |
possibly damaging |
Het |
| Or14a259 |
C |
T |
7: 86,013,373 (GRCm39) |
M57I |
probably damaging |
Het |
| Or51f2 |
T |
A |
7: 102,526,646 (GRCm39) |
F106L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,144 (GRCm39) |
K264E |
probably benign |
Het |
| Phf11 |
G |
A |
14: 59,496,033 (GRCm39) |
T27I |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,253,120 (GRCm39) |
T1324S |
possibly damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,897,523 (GRCm39) |
Y495F |
|
Het |
| Ppp2r5d |
T |
C |
17: 46,997,989 (GRCm39) |
K225E |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,306,053 (GRCm39) |
D64G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,742,849 (GRCm39) |
I431T |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,545,432 (GRCm39) |
S100P |
probably benign |
Het |
| Shh |
T |
A |
5: 28,663,058 (GRCm39) |
H370L |
probably benign |
Het |
| Siah3 |
A |
T |
14: 75,763,043 (GRCm39) |
H98L |
possibly damaging |
Het |
| Sim2 |
C |
T |
16: 93,924,192 (GRCm39) |
H446Y |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,993,237 (GRCm39) |
I320T |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,367,398 (GRCm39) |
N221K |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,076,191 (GRCm39) |
S816G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,997 (GRCm39) |
T251A |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,533,796 (GRCm39) |
V3351A |
possibly damaging |
Het |
| Tbc1d15 |
A |
G |
10: 115,046,195 (GRCm39) |
V436A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 129,688,011 (GRCm39) |
K641* |
probably null |
Het |
| Tmc5 |
G |
T |
7: 118,269,925 (GRCm39) |
V892F |
possibly damaging |
Het |
| Tpsab1 |
T |
A |
17: 25,562,685 (GRCm39) |
H238L |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,194,412 (GRCm39) |
N812S |
probably benign |
Het |
| Trio |
T |
A |
15: 27,905,278 (GRCm39) |
N163Y |
unknown |
Het |
| Ttc39d |
A |
G |
17: 80,524,693 (GRCm39) |
T451A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,550,351 (GRCm39) |
L832P |
probably damaging |
Het |
| Vmn2r15 |
C |
A |
5: 109,441,938 (GRCm39) |
C165F |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,932,344 (GRCm39) |
F84L |
possibly damaging |
Het |
| Wdr95 |
C |
T |
5: 149,518,752 (GRCm39) |
T531I |
possibly damaging |
Het |
| Zcrb1 |
C |
A |
15: 93,284,118 (GRCm39) |
G191V |
probably benign |
Het |
| Zfp111 |
G |
A |
7: 23,897,983 (GRCm39) |
P544S |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,576,539 (GRCm39) |
S181G |
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 |
|
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 |
|
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 |
|
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'- ACTTACATGGTCCAGTGCATG -3'
(R):5'- AAAGCTATCAAGTTCACCTACGTC -3'
Sequencing Primer
(F):5'- AGTGCATGGTAAGACCCCCAG -3'
(R):5'- TCAGACTCCTGAGCTGTCTCTAAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation