Incidental Mutation 'R1475:Osbpl1a'
ID |
164024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl1a
|
Ensembl Gene |
ENSMUSG00000044252 |
Gene Name |
oxysterol binding protein-like 1A |
Synonyms |
G430090F17Rik, LOC328902 |
MMRRC Submission |
039528-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R1475 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12890737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 380
(K380M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000080415]
[ENSMUST00000115857]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119108]
[ENSMUST00000119512]
[ENSMUST00000121888]
[ENSMUST00000121808]
[ENSMUST00000121774]
[ENSMUST00000191078]
[ENSMUST00000150758]
[ENSMUST00000186263]
[ENSMUST00000121018]
|
AlphaFold |
Q91XL9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074352
AA Change: K893M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073957 Gene: ENSMUSG00000044252 AA Change: K893M
Domain | Start | End | E-Value | Type |
ANK
|
47 |
76 |
2.05e-6 |
SMART |
ANK
|
80 |
109 |
1.29e-3 |
SMART |
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
ANK
|
175 |
204 |
1.31e-4 |
SMART |
PH
|
236 |
336 |
6.02e-8 |
SMART |
low complexity region
|
345 |
354 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
548 |
940 |
6.7e-149 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080415
|
SMART Domains |
Protein: ENSMUSP00000079277 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115857
|
SMART Domains |
Protein: ENSMUSP00000111523 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
2.2e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117361
AA Change: K380M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112681 Gene: ENSMUSG00000044252 AA Change: K380M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118313
AA Change: K380M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113735 Gene: ENSMUSG00000044252 AA Change: K380M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119043
AA Change: K380M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113357 Gene: ENSMUSG00000044252 AA Change: K380M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119108
|
SMART Domains |
Protein: ENSMUSP00000113760 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
8.5e-13 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119512
AA Change: K501M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113914 Gene: ENSMUSG00000044252 AA Change: K501M
Domain | Start | End | E-Value | Type |
coiled coil region
|
38 |
71 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
156 |
549 |
1.2e-149 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121888
AA Change: K380M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112895 Gene: ENSMUSG00000044252 AA Change: K380M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121808
AA Change: K380M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113841 Gene: ENSMUSG00000044252 AA Change: K380M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121774
AA Change: K353M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113268 Gene: ENSMUSG00000044252 AA Change: K353M
Domain | Start | End | E-Value | Type |
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191078
|
SMART Domains |
Protein: ENSMUSP00000140894 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150758
|
SMART Domains |
Protein: ENSMUSP00000118330 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186263
|
SMART Domains |
Protein: ENSMUSP00000140870 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121018
|
SMART Domains |
Protein: ENSMUSP00000113131 Gene: ENSMUSG00000024430
Domain | Start | End | E-Value | Type |
Pfam:RIIa
|
12 |
46 |
6.7e-12 |
PFAM |
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
96% (46/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
C2cd5 |
T |
C |
6: 143,018,298 (GRCm39) |
D308G |
possibly damaging |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,951,495 (GRCm39) |
L144S |
probably damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
Emcn |
C |
T |
3: 137,085,668 (GRCm39) |
H89Y |
possibly damaging |
Het |
Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
Fam78b |
T |
A |
1: 166,829,346 (GRCm39) |
I71N |
probably damaging |
Het |
Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
Lrsam1 |
G |
T |
2: 32,844,277 (GRCm39) |
Q115K |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
Zfp874b |
A |
T |
13: 67,622,211 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Osbpl1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Osbpl1a
|
APN |
18 |
12,890,683 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01062:Osbpl1a
|
APN |
18 |
13,038,132 (GRCm39) |
missense |
probably benign |
|
IGL01450:Osbpl1a
|
APN |
18 |
13,004,152 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01531:Osbpl1a
|
APN |
18 |
13,066,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01548:Osbpl1a
|
APN |
18 |
12,896,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01606:Osbpl1a
|
APN |
18 |
12,889,271 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01672:Osbpl1a
|
APN |
18 |
12,899,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02372:Osbpl1a
|
APN |
18 |
12,974,370 (GRCm39) |
nonsense |
probably null |
|
IGL02451:Osbpl1a
|
APN |
18 |
13,047,550 (GRCm39) |
splice site |
probably benign |
|
IGL02490:Osbpl1a
|
APN |
18 |
13,015,341 (GRCm39) |
unclassified |
probably benign |
|
IGL02884:Osbpl1a
|
APN |
18 |
12,952,635 (GRCm39) |
nonsense |
probably null |
|
R0084:Osbpl1a
|
UTSW |
18 |
12,890,669 (GRCm39) |
missense |
probably benign |
0.07 |
R0266:Osbpl1a
|
UTSW |
18 |
13,004,220 (GRCm39) |
splice site |
probably null |
|
R0565:Osbpl1a
|
UTSW |
18 |
12,892,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Osbpl1a
|
UTSW |
18 |
13,015,336 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0899:Osbpl1a
|
UTSW |
18 |
12,890,747 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1330:Osbpl1a
|
UTSW |
18 |
13,015,251 (GRCm39) |
critical splice donor site |
probably null |
|
R1464:Osbpl1a
|
UTSW |
18 |
13,047,615 (GRCm39) |
missense |
probably benign |
|
R1464:Osbpl1a
|
UTSW |
18 |
13,047,615 (GRCm39) |
missense |
probably benign |
|
R1495:Osbpl1a
|
UTSW |
18 |
12,891,896 (GRCm39) |
missense |
probably benign |
0.08 |
R1734:Osbpl1a
|
UTSW |
18 |
12,921,373 (GRCm39) |
splice site |
probably null |
|
R1930:Osbpl1a
|
UTSW |
18 |
13,038,251 (GRCm39) |
missense |
probably benign |
0.04 |
R1931:Osbpl1a
|
UTSW |
18 |
13,038,251 (GRCm39) |
missense |
probably benign |
0.04 |
R2109:Osbpl1a
|
UTSW |
18 |
12,892,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Osbpl1a
|
UTSW |
18 |
13,004,230 (GRCm39) |
missense |
probably benign |
0.06 |
R2504:Osbpl1a
|
UTSW |
18 |
13,038,088 (GRCm39) |
missense |
probably benign |
0.30 |
R2762:Osbpl1a
|
UTSW |
18 |
12,899,956 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2907:Osbpl1a
|
UTSW |
18 |
13,004,129 (GRCm39) |
unclassified |
probably benign |
|
R4306:Osbpl1a
|
UTSW |
18 |
12,952,652 (GRCm39) |
missense |
probably benign |
|
R4835:Osbpl1a
|
UTSW |
18 |
12,901,593 (GRCm39) |
critical splice donor site |
probably null |
|
R5097:Osbpl1a
|
UTSW |
18 |
12,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R5173:Osbpl1a
|
UTSW |
18 |
12,895,697 (GRCm39) |
missense |
probably benign |
0.12 |
R5224:Osbpl1a
|
UTSW |
18 |
13,066,753 (GRCm39) |
missense |
probably benign |
0.01 |
R5245:Osbpl1a
|
UTSW |
18 |
12,891,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Osbpl1a
|
UTSW |
18 |
13,025,319 (GRCm39) |
missense |
probably benign |
0.22 |
R5579:Osbpl1a
|
UTSW |
18 |
12,974,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R5833:Osbpl1a
|
UTSW |
18 |
12,921,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Osbpl1a
|
UTSW |
18 |
13,038,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Osbpl1a
|
UTSW |
18 |
12,952,560 (GRCm39) |
critical splice donor site |
probably null |
|
R6296:Osbpl1a
|
UTSW |
18 |
12,952,560 (GRCm39) |
critical splice donor site |
probably null |
|
R6477:Osbpl1a
|
UTSW |
18 |
12,889,318 (GRCm39) |
missense |
probably benign |
0.03 |
R6997:Osbpl1a
|
UTSW |
18 |
12,889,281 (GRCm39) |
missense |
probably benign |
0.05 |
R7105:Osbpl1a
|
UTSW |
18 |
12,900,020 (GRCm39) |
missense |
probably benign |
0.17 |
R7107:Osbpl1a
|
UTSW |
18 |
12,974,310 (GRCm39) |
nonsense |
probably null |
|
R7154:Osbpl1a
|
UTSW |
18 |
12,901,649 (GRCm39) |
missense |
probably benign |
0.00 |
R7459:Osbpl1a
|
UTSW |
18 |
13,066,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Osbpl1a
|
UTSW |
18 |
13,066,657 (GRCm39) |
missense |
probably benign |
0.44 |
R7797:Osbpl1a
|
UTSW |
18 |
13,015,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R8029:Osbpl1a
|
UTSW |
18 |
13,047,578 (GRCm39) |
missense |
probably benign |
0.01 |
R8084:Osbpl1a
|
UTSW |
18 |
13,038,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R8506:Osbpl1a
|
UTSW |
18 |
12,901,643 (GRCm39) |
missense |
probably benign |
0.02 |
R8947:Osbpl1a
|
UTSW |
18 |
12,899,858 (GRCm39) |
critical splice donor site |
probably null |
|
R9069:Osbpl1a
|
UTSW |
18 |
13,002,074 (GRCm39) |
intron |
probably benign |
|
R9085:Osbpl1a
|
UTSW |
18 |
13,062,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Osbpl1a
|
UTSW |
18 |
12,904,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Osbpl1a
|
UTSW |
18 |
13,031,244 (GRCm39) |
missense |
probably benign |
0.00 |
R9517:Osbpl1a
|
UTSW |
18 |
13,042,965 (GRCm39) |
missense |
probably benign |
|
R9600:Osbpl1a
|
UTSW |
18 |
13,015,277 (GRCm39) |
missense |
probably benign |
0.00 |
R9658:Osbpl1a
|
UTSW |
18 |
12,889,269 (GRCm39) |
missense |
probably benign |
0.05 |
R9694:Osbpl1a
|
UTSW |
18 |
12,952,565 (GRCm39) |
missense |
probably benign |
0.03 |
X0027:Osbpl1a
|
UTSW |
18 |
12,892,560 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1177:Osbpl1a
|
UTSW |
18 |
13,039,980 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAACAATGGTTACAGGTGACTC -3'
(R):5'- TGACAGTGTCAGATGCCAACATCTC -3'
Sequencing Primer
(F):5'- TAACCCCTGCGTTTGGAAAAG -3'
(R):5'- tccccacattagccttgaac -3'
|
Posted On |
2014-03-28 |