Incidental Mutation 'R1734:Osbpl1a'
| ID |
199601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
LOC328902, G430090F17Rik |
| MMRRC Submission |
039766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12755314-12941841 bp(-) (GRCm38) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 12788316 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119512]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000143077]
[ENSMUST00000143077]
[ENSMUST00000155650]
[ENSMUST00000155650]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074352
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
| 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 null
Transcript: ENSMUST00000117361
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118313
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119043
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119512
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
| 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 null
Transcript: ENSMUST00000121774
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121808
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121888
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143077
|
| SMART Domains |
Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
184 |
3.5e-69 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143077
|
| SMART Domains |
Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
184 |
3.5e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154614
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155650
|
| SMART Domains |
Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
46 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
131 |
187 |
1.3e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155650
|
| SMART Domains |
Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
46 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
131 |
187 |
1.3e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,670,026 (GRCm38) |
C379S |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,585,460 (GRCm38) |
C4695R |
probably benign |
Het |
| Actr10 |
T |
A |
12: 70,961,996 (GRCm38) |
V401E |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,779,518 (GRCm38) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,674,796 (GRCm38) |
I59K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,641,550 (GRCm38) |
|
probably null |
Het |
| Anln |
A |
T |
9: 22,350,955 (GRCm38) |
S947T |
possibly damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,414,655 (GRCm38) |
T733A |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,840,308 (GRCm38) |
P182L |
probably damaging |
Het |
| Cblb |
T |
C |
16: 52,186,240 (GRCm38) |
|
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,340,883 (GRCm38) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,138,097 (GRCm38) |
G69S |
probably damaging |
Het |
| Chac1 |
A |
T |
2: 119,353,458 (GRCm38) |
L180F |
probably damaging |
Het |
| Cherp |
A |
T |
8: 72,470,088 (GRCm38) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,527,874 (GRCm38) |
S442P |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,436,814 (GRCm38) |
|
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,793,656 (GRCm38) |
C1057S |
probably damaging |
Het |
| Dact2 |
T |
C |
17: 14,196,639 (GRCm38) |
D433G |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,044,761 (GRCm38) |
T3526M |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,608,384 (GRCm38) |
T210A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,281,371 (GRCm38) |
S2839P |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,543,649 (GRCm38) |
Y304C |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,445,775 (GRCm38) |
|
noncoding transcript |
Het |
| Grm3 |
C |
T |
5: 9,589,742 (GRCm38) |
R101K |
probably benign |
Het |
| Hspa12b |
A |
G |
2: 131,138,536 (GRCm38) |
Y125C |
possibly damaging |
Het |
| Il10ra |
T |
C |
9: 45,255,943 (GRCm38) |
T437A |
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,657,822 (GRCm38) |
V750M |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,674,526 (GRCm38) |
F763L |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,658,115 (GRCm38) |
D746G |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 121,047,841 (GRCm38) |
Y57N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,575,720 (GRCm38) |
E1803K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,175,623 (GRCm38) |
S447L |
possibly damaging |
Het |
| Or14a256 |
C |
T |
7: 86,616,217 (GRCm38) |
V143M |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,285,965 (GRCm38) |
N804S |
probably damaging |
Het |
| Pepd |
A |
T |
7: 35,031,426 (GRCm38) |
D301V |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,426,505 (GRCm38) |
|
probably null |
Het |
| Plec |
C |
T |
15: 76,186,218 (GRCm38) |
V931M |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,150,707 (GRCm38) |
S1877P |
possibly damaging |
Het |
| Retreg2 |
G |
T |
1: 75,142,986 (GRCm38) |
|
probably null |
Het |
| Slc7a11 |
G |
A |
3: 50,372,346 (GRCm38) |
Q489* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,259,768 (GRCm38) |
D256N |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Spmip9 |
T |
A |
6: 70,913,661 (GRCm38) |
Q49L |
probably benign |
Het |
| Syce2 |
G |
A |
8: 84,887,147 (GRCm38) |
E168K |
probably benign |
Het |
| Tmem260 |
G |
T |
14: 48,509,093 (GRCm38) |
V609L |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,309,329 (GRCm38) |
D515G |
probably damaging |
Het |
| Tspan5 |
T |
C |
3: 138,898,140 (GRCm38) |
Y131H |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,755,838 (GRCm38) |
I466V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,745,813 (GRCm38) |
D24912G |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,767,461 (GRCm38) |
N1843K |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,432,300 (GRCm38) |
R204G |
probably damaging |
Het |
| Vps18 |
A |
T |
2: 119,293,942 (GRCm38) |
Q450L |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,776,463 (GRCm38) |
E198G |
probably benign |
Het |
|
| Other mutations in Osbpl1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Osbpl1a
|
APN |
18 |
12,757,626 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL01062:Osbpl1a
|
APN |
18 |
12,905,075 (GRCm38) |
missense |
probably benign |
|
|
IGL01450:Osbpl1a
|
APN |
18 |
12,871,095 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01531:Osbpl1a
|
APN |
18 |
12,933,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01548:Osbpl1a
|
APN |
18 |
12,763,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01606:Osbpl1a
|
APN |
18 |
12,756,214 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL01672:Osbpl1a
|
APN |
18 |
12,766,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02372:Osbpl1a
|
APN |
18 |
12,841,313 (GRCm38) |
nonsense |
probably null |
|
|
IGL02451:Osbpl1a
|
APN |
18 |
12,914,493 (GRCm38) |
splice site |
probably benign |
|
|
IGL02490:Osbpl1a
|
APN |
18 |
12,882,284 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02884:Osbpl1a
|
APN |
18 |
12,819,578 (GRCm38) |
nonsense |
probably null |
|
|
R0084:Osbpl1a
|
UTSW |
18 |
12,757,612 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0266:Osbpl1a
|
UTSW |
18 |
12,871,163 (GRCm38) |
splice site |
probably null |
|
|
R0565:Osbpl1a
|
UTSW |
18 |
12,759,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0605:Osbpl1a
|
UTSW |
18 |
12,882,279 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0899:Osbpl1a
|
UTSW |
18 |
12,757,690 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1330:Osbpl1a
|
UTSW |
18 |
12,882,194 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1464:Osbpl1a
|
UTSW |
18 |
12,914,558 (GRCm38) |
missense |
probably benign |
|
|
R1464:Osbpl1a
|
UTSW |
18 |
12,914,558 (GRCm38) |
missense |
probably benign |
|
|
R1475:Osbpl1a
|
UTSW |
18 |
12,757,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1495:Osbpl1a
|
UTSW |
18 |
12,758,839 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1930:Osbpl1a
|
UTSW |
18 |
12,905,194 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1931:Osbpl1a
|
UTSW |
18 |
12,905,194 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2109:Osbpl1a
|
UTSW |
18 |
12,759,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Osbpl1a
|
UTSW |
18 |
12,871,173 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2504:Osbpl1a
|
UTSW |
18 |
12,905,031 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2762:Osbpl1a
|
UTSW |
18 |
12,766,899 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2907:Osbpl1a
|
UTSW |
18 |
12,871,072 (GRCm38) |
unclassified |
probably benign |
|
|
R4306:Osbpl1a
|
UTSW |
18 |
12,819,595 (GRCm38) |
missense |
probably benign |
|
|
R4835:Osbpl1a
|
UTSW |
18 |
12,768,536 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5097:Osbpl1a
|
UTSW |
18 |
12,763,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5173:Osbpl1a
|
UTSW |
18 |
12,762,640 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5224:Osbpl1a
|
UTSW |
18 |
12,933,696 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5245:Osbpl1a
|
UTSW |
18 |
12,758,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5579:Osbpl1a
|
UTSW |
18 |
12,892,262 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5579:Osbpl1a
|
UTSW |
18 |
12,841,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5833:Osbpl1a
|
UTSW |
18 |
12,788,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5986:Osbpl1a
|
UTSW |
18 |
12,905,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6267:Osbpl1a
|
UTSW |
18 |
12,819,503 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6296:Osbpl1a
|
UTSW |
18 |
12,819,503 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6477:Osbpl1a
|
UTSW |
18 |
12,756,261 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6997:Osbpl1a
|
UTSW |
18 |
12,756,224 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7105:Osbpl1a
|
UTSW |
18 |
12,766,963 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7107:Osbpl1a
|
UTSW |
18 |
12,841,253 (GRCm38) |
nonsense |
probably null |
|
|
R7154:Osbpl1a
|
UTSW |
18 |
12,768,592 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7459:Osbpl1a
|
UTSW |
18 |
12,933,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7757:Osbpl1a
|
UTSW |
18 |
12,933,600 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7797:Osbpl1a
|
UTSW |
18 |
12,882,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8029:Osbpl1a
|
UTSW |
18 |
12,914,521 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8084:Osbpl1a
|
UTSW |
18 |
12,905,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8506:Osbpl1a
|
UTSW |
18 |
12,768,586 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8947:Osbpl1a
|
UTSW |
18 |
12,766,801 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9069:Osbpl1a
|
UTSW |
18 |
12,869,017 (GRCm38) |
intron |
probably benign |
|
|
R9085:Osbpl1a
|
UTSW |
18 |
12,929,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9288:Osbpl1a
|
UTSW |
18 |
12,771,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9443:Osbpl1a
|
UTSW |
18 |
12,898,187 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9517:Osbpl1a
|
UTSW |
18 |
12,909,908 (GRCm38) |
missense |
probably benign |
|
|
R9600:Osbpl1a
|
UTSW |
18 |
12,882,220 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9658:Osbpl1a
|
UTSW |
18 |
12,756,212 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9694:Osbpl1a
|
UTSW |
18 |
12,819,508 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0027:Osbpl1a
|
UTSW |
18 |
12,759,503 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
Z1177:Osbpl1a
|
UTSW |
18 |
12,906,923 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAGAGACTCTGGCATCAGAC -3'
(R):5'- CAATGGCAACATGGCTTCCTTTCC -3'
Sequencing Primer
(F):5'- CAGACTGAAGCCTCAGTATCTTG -3'
(R):5'- CACTATCACTGGCATTAAAAATGAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation