Incidental Mutation 'R7385:Osbpl6'
ID |
573007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl6
|
Ensembl Gene |
ENSMUSG00000042359 |
Gene Name |
oxysterol binding protein-like 6 |
Synonyms |
1110062M20Rik, ORP-6 |
MMRRC Submission |
045467-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R7385 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76379794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 128
(G128E)
|
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: G128E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077123 Gene: ENSMUSG00000042359 AA Change: G128E
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: G128E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107560 Gene: ENSMUSG00000042359 AA Change: G128E
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: G128E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107561 Gene: ENSMUSG00000042359 AA Change: G128E
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: G15E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139363 Gene: ENSMUSG00000042359 AA Change: G15E
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (75/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
T |
C |
1: 179,580,946 (GRCm39) |
E1752G |
possibly damaging |
Het |
Aqp3 |
T |
C |
4: 41,095,178 (GRCm39) |
T68A |
probably damaging |
Het |
Arhgap40 |
A |
G |
2: 158,385,147 (GRCm39) |
K463R |
probably damaging |
Het |
Asb10 |
A |
T |
5: 24,738,736 (GRCm39) |
C440* |
probably null |
Het |
Bach1 |
A |
G |
16: 87,526,385 (GRCm39) |
T616A |
probably damaging |
Het |
Braf |
T |
A |
6: 39,642,042 (GRCm39) |
|
probably null |
Het |
Cacna1s |
A |
T |
1: 136,020,371 (GRCm39) |
N803Y |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,663,000 (GRCm39) |
E21G |
probably damaging |
Het |
Caskin1 |
G |
T |
17: 24,722,898 (GRCm39) |
G589C |
probably damaging |
Het |
Cdc37l1 |
T |
C |
19: 28,968,071 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,914,762 (GRCm39) |
L1615P |
unknown |
Het |
Cpt1a |
C |
A |
19: 3,430,155 (GRCm39) |
P672T |
probably damaging |
Het |
Defb22 |
A |
G |
2: 152,328,117 (GRCm39) |
Y23H |
probably damaging |
Het |
Depdc1b |
G |
C |
13: 108,500,166 (GRCm39) |
K226N |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,909,764 (GRCm39) |
|
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
Dsg3 |
C |
A |
18: 20,673,254 (GRCm39) |
T975K |
possibly damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,170,269 (GRCm39) |
D107E |
probably damaging |
Het |
Fut11 |
A |
G |
14: 20,746,325 (GRCm39) |
D389G |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,225,328 (GRCm39) |
G299E |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,886,423 (GRCm39) |
D617G |
probably benign |
Het |
Grin2d |
A |
G |
7: 45,506,960 (GRCm39) |
V505A |
probably damaging |
Het |
Heatr6 |
T |
C |
11: 83,650,161 (GRCm39) |
Y206H |
probably damaging |
Het |
Hhex |
C |
A |
19: 37,425,713 (GRCm39) |
N147K |
probably damaging |
Het |
Igkv4-80 |
G |
A |
6: 68,993,699 (GRCm39) |
S64F |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,068 (GRCm39) |
K360R |
possibly damaging |
Het |
Kat5 |
AG |
A |
19: 5,658,297 (GRCm39) |
|
probably null |
Het |
Kat5 |
T |
A |
19: 5,658,302 (GRCm39) |
N191I |
probably benign |
Het |
Kifc5b |
A |
G |
17: 27,144,597 (GRCm39) |
D572G |
probably damaging |
Het |
Lrp5 |
C |
A |
19: 3,662,197 (GRCm39) |
|
probably null |
Het |
Lrtm1 |
A |
G |
14: 28,749,673 (GRCm39) |
M345V |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,162,461 (GRCm39) |
V981A |
probably benign |
Het |
Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
Mrgprd |
A |
G |
7: 144,875,261 (GRCm39) |
N44S |
probably damaging |
Het |
Mrps10 |
C |
A |
17: 47,689,146 (GRCm39) |
P181Q |
probably damaging |
Het |
Myot |
T |
A |
18: 44,470,075 (GRCm39) |
C17* |
probably null |
Het |
Myt1 |
A |
G |
2: 181,409,498 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
C |
A |
2: 155,249,721 (GRCm39) |
L1194F |
probably damaging |
Het |
Or4d11 |
T |
C |
19: 12,013,363 (GRCm39) |
T248A |
probably benign |
Het |
Or4d6 |
T |
C |
19: 12,086,061 (GRCm39) |
N57S |
probably damaging |
Het |
Or4e5 |
T |
C |
14: 52,727,638 (GRCm39) |
Y261C |
probably damaging |
Het |
Or7a39 |
C |
A |
10: 78,715,288 (GRCm39) |
T94K |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
P3h3 |
A |
T |
6: 124,832,233 (GRCm39) |
Y218N |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,986,418 (GRCm39) |
|
probably null |
Het |
Pdia5 |
T |
C |
16: 35,250,284 (GRCm39) |
Y225C |
probably damaging |
Het |
Pik3c2g |
T |
G |
6: 139,801,079 (GRCm39) |
M526R |
|
Het |
Prox1 |
A |
G |
1: 189,894,323 (GRCm39) |
F41L |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,453,408 (GRCm39) |
F284I |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,699,678 (GRCm39) |
C1392S |
probably benign |
Het |
Rfxank |
A |
T |
8: 70,587,285 (GRCm39) |
V212E |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,031,222 (GRCm39) |
D482G |
probably benign |
Het |
Sat2 |
A |
T |
11: 69,513,763 (GRCm39) |
I94F |
probably damaging |
Het |
Scarf2 |
T |
C |
16: 17,621,702 (GRCm39) |
L384P |
probably damaging |
Het |
Sec14l2 |
C |
A |
11: 4,066,750 (GRCm39) |
E21* |
probably null |
Het |
Slitrk5 |
T |
A |
14: 111,918,131 (GRCm39) |
V585E |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,123,571 (GRCm39) |
E3146D |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,123,729 (GRCm39) |
S3094G |
probably benign |
Het |
Tas2r130 |
T |
A |
6: 131,607,226 (GRCm39) |
M190L |
probably benign |
Het |
Ticrr |
G |
A |
7: 79,341,597 (GRCm39) |
S1061N |
possibly damaging |
Het |
Tlr9 |
C |
A |
9: 106,102,463 (GRCm39) |
H585N |
probably damaging |
Het |
Tmem219 |
A |
T |
7: 126,495,947 (GRCm39) |
I142N |
probably damaging |
Het |
Tnni2 |
A |
G |
7: 141,996,915 (GRCm39) |
N8S |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
Ttc8 |
A |
G |
12: 98,908,547 (GRCm39) |
E72G |
possibly damaging |
Het |
Upf1 |
A |
G |
8: 70,793,268 (GRCm39) |
Y297H |
probably damaging |
Het |
Vmn1r4 |
A |
G |
6: 56,933,721 (GRCm39) |
K75R |
probably damaging |
Het |
Vmn2r78 |
G |
A |
7: 86,571,633 (GRCm39) |
G481D |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,803,302 (GRCm39) |
Y404C |
probably damaging |
Het |
Vps50 |
T |
A |
6: 3,602,708 (GRCm39) |
S942T |
probably benign |
Het |
Xkr7 |
C |
A |
2: 152,895,983 (GRCm39) |
S279* |
probably null |
Het |
Zan |
G |
A |
5: 137,432,416 (GRCm39) |
Q2294* |
probably null |
Het |
Zan |
T |
C |
5: 137,448,753 (GRCm39) |
Y1700C |
unknown |
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 |
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'- CGCATGCTGAGATTGATGTG -3'
(R):5'- TGAAAACAGTCTCTTTGCTGCC -3'
Sequencing Primer
(F):5'- GGAGATCCAACTGTCCTTAGTGC -3'
(R):5'- CACTGGTGTGGGAAAATCACATCC -3'
|
Posted On |
2019-09-13 |