Incidental Mutation 'R5783:Osbpl8'
ID |
447873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
043380-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5783 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 111103644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 216
(L216*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
AlphaFold |
B9EJ86 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095310
AA Change: L174*
|
SMART Domains |
Protein: ENSMUSP00000092948 Gene: ENSMUSG00000020189 AA Change: L174*
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
PH
|
107 |
225 |
3.65e-16 |
SMART |
Pfam:Oxysterol_BP
|
364 |
715 |
6.4e-91 |
PFAM |
coiled coil region
|
789 |
811 |
N/A |
INTRINSIC |
transmembrane domain
|
829 |
846 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105275
AA Change: L216*
|
SMART Domains |
Protein: ENSMUSP00000100911 Gene: ENSMUSG00000020189 AA Change: L216*
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
144 |
N/A |
INTRINSIC |
PH
|
149 |
267 |
3.65e-16 |
SMART |
Pfam:Oxysterol_BP
|
406 |
752 |
4.6e-91 |
PFAM |
coiled coil region
|
831 |
853 |
N/A |
INTRINSIC |
transmembrane domain
|
871 |
888 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220139
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the oxysterol-binding protein (Osbp) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal Osbp-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,468,787 (GRCm39) |
Y48F |
probably damaging |
Het |
Apob |
A |
G |
12: 8,051,022 (GRCm39) |
D1082G |
probably damaging |
Het |
Cald1 |
G |
A |
6: 34,730,468 (GRCm39) |
A236T |
possibly damaging |
Het |
Ccdc88b |
A |
C |
19: 6,831,284 (GRCm39) |
C553G |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,967,341 (GRCm39) |
D2161G |
probably benign |
Het |
Cep78 |
G |
T |
19: 15,933,723 (GRCm39) |
N618K |
probably benign |
Het |
Chka |
A |
G |
19: 3,914,661 (GRCm39) |
N118D |
probably damaging |
Het |
Dennd5a |
A |
C |
7: 109,493,843 (GRCm39) |
I1263S |
probably damaging |
Het |
Dnaaf9 |
A |
C |
2: 130,581,003 (GRCm39) |
F582L |
possibly damaging |
Het |
Dnm3 |
T |
C |
1: 162,183,040 (GRCm39) |
T92A |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,518,655 (GRCm39) |
K50E |
probably damaging |
Het |
Fen1 |
G |
T |
19: 10,178,194 (GRCm39) |
Y83* |
probably null |
Het |
Gm1110 |
A |
G |
9: 26,793,632 (GRCm39) |
I532T |
probably benign |
Het |
H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
Impdh1 |
A |
T |
6: 29,206,342 (GRCm39) |
F140Y |
possibly damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,188 (GRCm39) |
D420G |
possibly damaging |
Het |
Kctd19 |
A |
G |
8: 106,113,612 (GRCm39) |
V664A |
probably benign |
Het |
Krt80 |
C |
T |
15: 101,257,360 (GRCm39) |
|
probably null |
Het |
Lars2 |
T |
G |
9: 123,290,661 (GRCm39) |
M876R |
probably benign |
Het |
Lrrc9 |
A |
G |
12: 72,502,827 (GRCm39) |
E266G |
possibly damaging |
Het |
Mesd |
T |
A |
7: 83,544,883 (GRCm39) |
V120E |
probably damaging |
Het |
Mogs |
C |
T |
6: 83,095,652 (GRCm39) |
T823I |
probably damaging |
Het |
Mrgprh |
C |
A |
17: 13,096,333 (GRCm39) |
T191N |
probably benign |
Het |
Mtss1 |
C |
T |
15: 58,815,373 (GRCm39) |
S729N |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,412,165 (GRCm39) |
E1704* |
probably null |
Het |
Or2ag13 |
C |
A |
7: 106,472,541 (GRCm39) |
V304F |
probably damaging |
Het |
Or51m1 |
A |
T |
7: 103,578,149 (GRCm39) |
I40F |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,338,982 (GRCm39) |
Y60H |
probably damaging |
Het |
Pcdha5 |
T |
C |
18: 37,095,534 (GRCm39) |
V681A |
probably benign |
Het |
Pgap3 |
A |
C |
11: 98,281,290 (GRCm39) |
V190G |
probably benign |
Het |
Ppp2r5a |
A |
T |
1: 191,086,837 (GRCm39) |
Y373N |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,535,665 (GRCm39) |
L1675P |
probably damaging |
Het |
Rapgef2 |
T |
G |
3: 78,995,300 (GRCm39) |
I635L |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,995,452 (GRCm39) |
D193G |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,483,343 (GRCm39) |
V4140I |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,353,353 (GRCm39) |
|
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,239 (GRCm39) |
L568* |
probably null |
Het |
Slc41a3 |
T |
C |
6: 90,596,524 (GRCm39) |
I31T |
probably benign |
Het |
Smad9 |
T |
C |
3: 54,701,863 (GRCm39) |
V368A |
probably benign |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,909,340 (GRCm39) |
N52S |
possibly damaging |
Het |
Svop |
T |
G |
5: 114,202,996 (GRCm39) |
D72A |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,609,810 (GRCm39) |
I153V |
probably damaging |
Het |
Tmem266 |
G |
T |
9: 55,305,087 (GRCm39) |
S32I |
probably damaging |
Het |
Trpm4 |
G |
T |
7: 44,959,813 (GRCm39) |
R694S |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,729,187 (GRCm39) |
L15P |
probably damaging |
Het |
Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,723,434 (GRCm39) |
S241R |
probably damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp617 |
C |
A |
8: 72,686,308 (GRCm39) |
H213N |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,921,829 (GRCm39) |
G652D |
possibly damaging |
Het |
Zmiz2 |
T |
C |
11: 6,355,081 (GRCm39) |
L916P |
probably damaging |
Het |
|
Other mutations in Osbpl8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Osbpl8
|
APN |
10 |
111,108,905 (GRCm39) |
missense |
probably benign |
0.30 |
IGL00826:Osbpl8
|
APN |
10 |
111,108,181 (GRCm39) |
splice site |
probably benign |
|
IGL00839:Osbpl8
|
APN |
10 |
111,127,371 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01148:Osbpl8
|
APN |
10 |
111,112,424 (GRCm39) |
splice site |
probably benign |
|
IGL01338:Osbpl8
|
APN |
10 |
111,103,608 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01927:Osbpl8
|
APN |
10 |
111,106,477 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02378:Osbpl8
|
APN |
10 |
111,118,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02863:Osbpl8
|
APN |
10 |
111,120,286 (GRCm39) |
splice site |
probably benign |
|
IGL02933:Osbpl8
|
APN |
10 |
111,117,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03075:Osbpl8
|
APN |
10 |
111,127,417 (GRCm39) |
missense |
probably benign |
0.01 |
R0388:Osbpl8
|
UTSW |
10 |
111,108,143 (GRCm39) |
missense |
probably benign |
|
R0725:Osbpl8
|
UTSW |
10 |
111,122,101 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1353:Osbpl8
|
UTSW |
10 |
111,112,340 (GRCm39) |
missense |
probably damaging |
0.97 |
R1434:Osbpl8
|
UTSW |
10 |
111,127,442 (GRCm39) |
missense |
probably benign |
0.01 |
R1803:Osbpl8
|
UTSW |
10 |
111,110,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Osbpl8
|
UTSW |
10 |
111,125,672 (GRCm39) |
missense |
probably benign |
0.19 |
R2847:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R2848:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R2849:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R2879:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R2935:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R3693:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
R4088:Osbpl8
|
UTSW |
10 |
111,125,651 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4374:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4376:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4377:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4621:Osbpl8
|
UTSW |
10 |
111,105,279 (GRCm39) |
missense |
probably benign |
0.01 |
R4622:Osbpl8
|
UTSW |
10 |
111,127,357 (GRCm39) |
missense |
probably benign |
0.00 |
R4851:Osbpl8
|
UTSW |
10 |
111,040,661 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R5134:Osbpl8
|
UTSW |
10 |
111,124,554 (GRCm39) |
missense |
probably benign |
0.28 |
R5179:Osbpl8
|
UTSW |
10 |
111,108,025 (GRCm39) |
missense |
probably benign |
0.01 |
R5309:Osbpl8
|
UTSW |
10 |
111,106,418 (GRCm39) |
missense |
probably benign |
0.00 |
R5590:Osbpl8
|
UTSW |
10 |
111,108,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R6293:Osbpl8
|
UTSW |
10 |
111,108,099 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6362:Osbpl8
|
UTSW |
10 |
111,108,929 (GRCm39) |
nonsense |
probably null |
|
R6527:Osbpl8
|
UTSW |
10 |
111,129,066 (GRCm39) |
missense |
probably benign |
0.23 |
R6751:Osbpl8
|
UTSW |
10 |
111,110,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6851:Osbpl8
|
UTSW |
10 |
111,106,479 (GRCm39) |
nonsense |
probably null |
|
R6955:Osbpl8
|
UTSW |
10 |
111,105,305 (GRCm39) |
critical splice donor site |
probably null |
|
R7224:Osbpl8
|
UTSW |
10 |
111,110,872 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7235:Osbpl8
|
UTSW |
10 |
111,105,288 (GRCm39) |
missense |
probably benign |
|
R7685:Osbpl8
|
UTSW |
10 |
111,112,370 (GRCm39) |
nonsense |
probably null |
|
R7988:Osbpl8
|
UTSW |
10 |
111,107,941 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8055:Osbpl8
|
UTSW |
10 |
111,120,255 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8458:Osbpl8
|
UTSW |
10 |
111,113,177 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8777:Osbpl8
|
UTSW |
10 |
111,128,974 (GRCm39) |
missense |
probably benign |
0.01 |
R8777-TAIL:Osbpl8
|
UTSW |
10 |
111,128,974 (GRCm39) |
missense |
probably benign |
0.01 |
R8844:Osbpl8
|
UTSW |
10 |
111,112,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Osbpl8
|
UTSW |
10 |
111,103,530 (GRCm39) |
missense |
probably damaging |
0.97 |
R8954:Osbpl8
|
UTSW |
10 |
111,108,053 (GRCm39) |
missense |
probably benign |
0.02 |
R8997:Osbpl8
|
UTSW |
10 |
111,091,575 (GRCm39) |
missense |
probably benign |
0.01 |
R9236:Osbpl8
|
UTSW |
10 |
111,106,496 (GRCm39) |
missense |
probably benign |
0.01 |
R9249:Osbpl8
|
UTSW |
10 |
111,122,012 (GRCm39) |
missense |
probably benign |
0.02 |
R9380:Osbpl8
|
UTSW |
10 |
111,108,980 (GRCm39) |
missense |
probably damaging |
0.99 |
R9394:Osbpl8
|
UTSW |
10 |
111,127,375 (GRCm39) |
nonsense |
probably null |
|
R9595:Osbpl8
|
UTSW |
10 |
111,108,909 (GRCm39) |
missense |
probably damaging |
0.99 |
RF007:Osbpl8
|
UTSW |
10 |
111,112,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCCTGAAGAGCTGGACCAAG -3'
(R):5'- ATGTAAACAGCACTGTCTGTGG -3'
Sequencing Primer
(F):5'- GAGCTGGACCAAGCTGTG -3'
(R):5'- AAAGGTGTGTGTTACCACTGCC -3'
|
Posted On |
2016-12-15 |