Incidental Mutation 'R5179:Osbpl8'
ID |
399402 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
042759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5179 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 111108025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 298
(D298E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
AlphaFold |
B9EJ86 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095310
AA Change: D298E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000092948 Gene: ENSMUSG00000020189 AA Change: D298E
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 benign
Transcript: ENSMUST00000105275
AA Change: D340E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000100911 Gene: ENSMUSG00000020189 AA Change: D340E
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 |
|
Meta Mutation Damage Score |
0.0586 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
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 |
R5783:Osbpl8
|
UTSW |
10 |
111,103,644 (GRCm39) |
nonsense |
probably null |
|
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'- TCCTTTCCAGTAAGTGCCAC -3'
(R):5'- TAGGCCAAGCAAATAATACCTCTCG -3'
Sequencing Primer
(F):5'- AGTAAGTGCCACGTTATCCAG -3'
(R):5'- AGTTAGTGAGTCTCTGAGCCACC -3'
|
Posted On |
2016-07-06 |