Incidental Mutation 'R8777-TAIL:Osbpl8'
| ID |
668128 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8777-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111128974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 853
(N853K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
| AlphaFold |
B9EJ86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095310
AA Change: N811K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: N811K
| 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: N853K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: N853K
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,989,894 (GRCm39) |
T816S |
probably benign |
Het |
| Aff4 |
G |
A |
11: 53,290,783 (GRCm39) |
S581N |
probably damaging |
Het |
| Aimp2 |
G |
A |
5: 143,839,825 (GRCm39) |
A253V |
probably damaging |
Het |
| Arl6ip4 |
T |
G |
5: 124,254,611 (GRCm39) |
S35A |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,059,869 (GRCm39) |
Y787N |
probably damaging |
Het |
| Btbd8 |
T |
G |
5: 107,658,293 (GRCm39) |
I1621R |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,334 (GRCm39) |
S13P |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,801,793 (GRCm39) |
S108F |
probably damaging |
Het |
| Ccdc39 |
G |
A |
3: 33,893,282 (GRCm39) |
T101I |
probably benign |
Het |
| Cdh13 |
G |
T |
8: 119,963,706 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
T |
6: 129,380,537 (GRCm39) |
E151V |
probably benign |
Het |
| Cplx1 |
T |
A |
5: 108,673,435 (GRCm39) |
|
probably null |
Het |
| Diablo |
T |
A |
5: 123,655,990 (GRCm39) |
I150F |
unknown |
Het |
| Esp31 |
T |
C |
17: 38,955,582 (GRCm39) |
V75A |
probably benign |
Het |
| Gm49336 |
G |
A |
14: 60,466,185 (GRCm39) |
L458F |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,972 (GRCm39) |
S241C |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,432 (GRCm39) |
N182S |
probably damaging |
Het |
| Hephl1 |
T |
G |
9: 14,972,090 (GRCm39) |
D950A |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,234,612 (GRCm39) |
I556T |
possibly damaging |
Het |
| Ints4 |
C |
A |
7: 97,134,227 (GRCm39) |
A53D |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,712 (GRCm39) |
V124A |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,058,657 (GRCm39) |
Q734H |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,304 (GRCm39) |
T1806A |
unknown |
Het |
| Mcmbp |
A |
T |
7: 128,308,855 (GRCm39) |
F389I |
probably damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,141,237 (GRCm39) |
G422S |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,632,185 (GRCm39) |
H173R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,747,422 (GRCm39) |
G200S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,252,161 (GRCm39) |
Q1423L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,398 (GRCm39) |
R1454G |
possibly damaging |
Het |
| Mylk4 |
C |
T |
13: 32,913,089 (GRCm39) |
V70I |
probably benign |
Het |
| Myof |
A |
G |
19: 37,968,841 (GRCm39) |
V358A |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,324,494 (GRCm39) |
H47L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,324,492 (GRCm39) |
I48F |
probably benign |
Het |
| Neurog2 |
G |
T |
3: 127,427,742 (GRCm39) |
R122L |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,129 (GRCm39) |
L193Q |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,227,234 (GRCm39) |
N290D |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,120 (GRCm39) |
M1409T |
probably benign |
Het |
| Oas1h |
T |
C |
5: 121,005,107 (GRCm39) |
L185P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,848 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,757 (GRCm39) |
W6* |
probably null |
Het |
| Or6c3 |
T |
A |
10: 129,309,374 (GRCm39) |
V271E |
possibly damaging |
Het |
| Pcsk4 |
G |
T |
10: 80,159,557 (GRCm39) |
P405Q |
probably benign |
Het |
| Piwil4 |
A |
C |
9: 14,650,685 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,967 (GRCm39) |
Y547H |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,382,156 (GRCm39) |
L51P |
probably damaging |
Het |
| Rufy2 |
T |
G |
10: 62,833,660 (GRCm39) |
L241V |
possibly damaging |
Het |
| Slc5a5 |
T |
C |
8: 71,343,934 (GRCm39) |
I155V |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,351,991 (GRCm39) |
M18R |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,375 (GRCm39) |
S592P |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,550,533 (GRCm39) |
W86R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,244 (GRCm39) |
N2457S |
probably damaging |
Het |
| Tent4a |
T |
A |
13: 69,658,824 (GRCm39) |
D337V |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,706,309 (GRCm39) |
T37N |
possibly damaging |
Het |
| Tmem268 |
T |
A |
4: 63,496,076 (GRCm39) |
N172K |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,773,949 (GRCm39) |
V2855D |
probably benign |
Het |
| Tubb6 |
A |
T |
18: 67,534,598 (GRCm39) |
T166S |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,034 (GRCm39) |
Y179C |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,933,597 (GRCm39) |
N1302D |
probably benign |
Het |
| Ube2r2 |
C |
T |
4: 41,190,715 (GRCm39) |
S203L |
possibly damaging |
Het |
| Vldlr |
G |
T |
19: 27,217,946 (GRCm39) |
V465L |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r42 |
A |
G |
7: 8,195,692 (GRCm39) |
F485L |
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 |
|
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 |
|
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 |
|
| Posted On |
2021-03-08 |
Incidental Mutation