Incidental Mutation 'R6955:Osbpl8'
| ID |
541419 |
| 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: 0.155)
|
| Stock # |
R6955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 111105305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
| AlphaFold |
B9EJ86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095310
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
| 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
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
| 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: 99.4%
- 20x: 97.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
| Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
| Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
| Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
| Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
| Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
| Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
| Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
| Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
| Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
| Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
| Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
probably null |
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 |
|
|
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'- GCCTGATGAATCCATATCTGATAAG -3'
(R):5'- GCATTCATGTGTCAGTGGAGAG -3'
Sequencing Primer
(F):5'- TGAAGGGTCCTAAAGGTG -3'
(R):5'- TGCACTGTTAACACGGCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation