Incidental Mutation 'IGL02378:Osbpl8'
| ID |
291234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl8
|
| Ensembl Gene |
ENSMUSG00000020189 |
| Gene Name |
oxysterol binding protein-like 8 |
| Synonyms |
ORP-8, D330025H14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL02378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111118006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 583
(M583K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
| AlphaFold |
B9EJ86 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095310
AA Change: M541K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: M541K
| 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 |
possibly damaging
Transcript: ENSMUST00000105275
AA Change: M583K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: M583K
| 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 |
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
| Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Arhgap42 |
G |
A |
9: 9,035,584 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
| Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
| Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
| Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
| Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
| Gabra1 |
C |
A |
11: 42,031,082 (GRCm39) |
V283F |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,905 (GRCm39) |
I179T |
possibly damaging |
Het |
| Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
| Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
| Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
| Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
| Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
| Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
| Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
| Slc24a3 |
C |
T |
2: 145,360,322 (GRCm39) |
R141C |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
| Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
| Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
| Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,266 (GRCm39) |
M450I |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation