Incidental Mutation 'R9394:Osbpl8'
| ID |
710752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl8
|
| Ensembl Gene |
ENSMUSG00000020189 |
| Gene Name |
oxysterol binding protein-like 8 |
| Synonyms |
ORP-8, D330025H14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R9394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 111127375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 820
(R820*)
|
| 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: R778*
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: R778*
| 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: R820*
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: R820*
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,135,225 (GRCm39) |
D78G |
|
Het |
| Adgrv1 |
A |
G |
13: 81,624,767 (GRCm39) |
V3734A |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,466,187 (GRCm39) |
E1106D |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,145,006 (GRCm39) |
Y639C |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,676,469 (GRCm39) |
V119I |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,815,921 (GRCm39) |
*621R |
probably null |
Het |
| Dis3l |
T |
C |
9: 64,225,017 (GRCm39) |
I427V |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,661,354 (GRCm39) |
V1751I |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,156,550 (GRCm39) |
F432L |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,883,536 (GRCm39) |
N1110S |
probably benign |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,792 (GRCm39) |
M1K |
probably null |
Het |
| Igkv3-1 |
T |
A |
6: 70,680,953 (GRCm39) |
Y51N |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,724,217 (GRCm39) |
I600K |
probably benign |
Het |
| Madd |
G |
A |
2: 91,000,199 (GRCm39) |
T569M |
probably benign |
Het |
| Mapk7 |
A |
T |
11: 61,381,858 (GRCm39) |
H351Q |
probably damaging |
Het |
| Met |
A |
C |
6: 17,513,395 (GRCm39) |
Y415S |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,555,239 (GRCm39) |
V151D |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,549,390 (GRCm39) |
D1267G |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,570 (GRCm39) |
V253A |
probably damaging |
Het |
| Or2l13 |
A |
C |
16: 19,306,421 (GRCm39) |
T278P |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,226,019 (GRCm39) |
V249A |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,094 (GRCm39) |
I206V |
probably benign |
Het |
| Oxsr1 |
C |
A |
9: 119,151,134 (GRCm39) |
E3* |
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,623,862 (GRCm39) |
D1035G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 16,981,053 (GRCm39) |
T70I |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,291,698 (GRCm39) |
L235S |
probably damaging |
Het |
| Rasal1 |
A |
C |
5: 120,816,746 (GRCm39) |
S761R |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,213,831 (GRCm39) |
N609S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,511,856 (GRCm39) |
S566G |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,942,905 (GRCm39) |
H611R |
probably damaging |
Het |
| Rpl35rt |
T |
C |
1: 156,193,793 (GRCm39) |
V49A |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,324,682 (GRCm39) |
N1382I |
probably damaging |
Het |
| Sgcb |
T |
C |
5: 73,801,653 (GRCm39) |
I71V |
probably benign |
Het |
| Slc6a20a |
C |
A |
9: 123,507,805 (GRCm39) |
V23L |
probably damaging |
Het |
| Slc7a1 |
A |
G |
5: 148,270,712 (GRCm39) |
W585R |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,132,715 (GRCm39) |
T403A |
probably benign |
Het |
| Trpm1 |
G |
T |
7: 63,918,480 (GRCm39) |
A1491S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,707,058 (GRCm39) |
D9044E |
unknown |
Het |
| Ube3a |
A |
T |
7: 58,921,960 (GRCm39) |
K111* |
probably null |
Het |
| Wee2 |
A |
G |
6: 40,433,878 (GRCm39) |
H264R |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,791,826 (GRCm39) |
I316F |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,254,600 (GRCm39) |
E1398G |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,810,993 (GRCm39) |
P57T |
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 |
|
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 |
|
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'- TCACTACTCTATTCGGTGTTCTAGT -3'
(R):5'- TTGAGAGTTCAGGCAACAGAG -3'
Sequencing Primer
(F):5'- ttaGTCTGTGGGCCATCC -3'
(R):5'- GGCGGAGTTATGAAAACACAGTGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation