Incidental Mutation 'R7107:Osbpl1a'
ID |
551285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl1a
|
Ensembl Gene |
ENSMUSG00000044252 |
Gene Name |
oxysterol binding protein-like 1A |
Synonyms |
G430090F17Rik, LOC328902 |
MMRRC Submission |
045199-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R7107 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 12974310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 459
(R459*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119512]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000124570]
[ENSMUST00000143077]
[ENSMUST00000155650]
|
AlphaFold |
Q91XL9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074352
AA Change: R459*
|
SMART Domains |
Protein: ENSMUSP00000073957 Gene: ENSMUSG00000044252 AA Change: R459*
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: 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 benign
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: ENSMUST00000119512
AA Change: R67*
|
SMART Domains |
Protein: ENSMUSP00000113914 Gene: ENSMUSG00000044252 AA Change: R67*
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000124570
|
Predicted Effect |
probably benign
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: ENSMUST00000155650
AA Change: R42*
|
SMART Domains |
Protein: ENSMUSP00000120439 Gene: ENSMUSG00000044252 AA Change: R42*
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
46 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
131 |
187 |
1.3e-23 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (78/79) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,867,299 (GRCm39) |
L253S |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,726,261 (GRCm39) |
E588G |
probably benign |
Het |
Ahcy |
G |
A |
2: 154,910,893 (GRCm39) |
A25V |
probably damaging |
Het |
Ank2 |
A |
C |
3: 126,797,631 (GRCm39) |
L710R |
probably damaging |
Het |
Ap1b1 |
A |
G |
11: 4,989,558 (GRCm39) |
T824A |
probably benign |
Het |
Arap2 |
T |
A |
5: 62,763,551 (GRCm39) |
H1531L |
probably damaging |
Het |
Atosb |
A |
T |
4: 43,036,434 (GRCm39) |
V99E |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,495 (GRCm39) |
L247P |
probably damaging |
Het |
Bcl6b |
A |
G |
11: 70,117,396 (GRCm39) |
C409R |
probably damaging |
Het |
Bicdl1 |
T |
C |
5: 115,808,229 (GRCm39) |
H301R |
probably benign |
Het |
Casc3 |
T |
A |
11: 98,718,413 (GRCm39) |
I491N |
possibly damaging |
Het |
Ccdc92b |
T |
A |
11: 74,520,887 (GRCm39) |
L63Q |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,837,314 (GRCm39) |
T2319A |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,981,628 (GRCm39) |
S1356P |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,450,129 (GRCm39) |
S1542P |
probably benign |
Het |
Clec2m |
A |
G |
6: 129,299,915 (GRCm39) |
C188R |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
Cpsf4l |
G |
A |
11: 113,593,315 (GRCm39) |
R90C |
possibly damaging |
Het |
Defa21 |
G |
A |
8: 21,515,724 (GRCm39) |
A41T |
probably damaging |
Het |
Dennd4a |
G |
T |
9: 64,801,681 (GRCm39) |
L941F |
possibly damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dtx4 |
A |
T |
19: 12,450,624 (GRCm39) |
C529* |
probably null |
Het |
Entpd3 |
A |
G |
9: 120,389,665 (GRCm39) |
Y317C |
probably damaging |
Het |
Erp29 |
T |
A |
5: 121,583,381 (GRCm39) |
I182F |
possibly damaging |
Het |
Fam161a |
A |
G |
11: 22,973,452 (GRCm39) |
R445G |
possibly damaging |
Het |
Fam76a |
T |
A |
4: 132,631,232 (GRCm39) |
M238L |
possibly damaging |
Het |
Fn1 |
T |
C |
1: 71,666,408 (GRCm39) |
Y875C |
probably damaging |
Het |
Gnb2 |
A |
G |
5: 137,528,444 (GRCm39) |
|
probably null |
Het |
Hspg2 |
T |
C |
4: 137,237,963 (GRCm39) |
S229P |
probably damaging |
Het |
Ighv6-6 |
A |
G |
12: 114,398,590 (GRCm39) |
S59P |
probably damaging |
Het |
Itpkc |
C |
A |
7: 26,927,702 (GRCm39) |
A71S |
probably benign |
Het |
Kcnk10 |
G |
A |
12: 98,485,002 (GRCm39) |
R45* |
probably null |
Het |
Krcc1 |
A |
G |
6: 71,261,198 (GRCm39) |
S77G |
probably benign |
Het |
Lelp1 |
G |
A |
3: 92,042,821 (GRCm39) |
T76I |
unknown |
Het |
Lifr |
A |
T |
15: 7,208,421 (GRCm39) |
I600F |
possibly damaging |
Het |
Lrrk1 |
T |
A |
7: 65,937,191 (GRCm39) |
D987V |
possibly damaging |
Het |
Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Myo9a |
A |
G |
9: 59,778,098 (GRCm39) |
I1285V |
probably benign |
Het |
Ndel1 |
T |
C |
11: 68,713,474 (GRCm39) |
D321G |
possibly damaging |
Het |
Nlrp4b |
T |
C |
7: 10,449,144 (GRCm39) |
V449A |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,525 (GRCm39) |
E273G |
probably benign |
Het |
Or2r11 |
T |
C |
6: 42,437,488 (GRCm39) |
N155S |
possibly damaging |
Het |
Or2y1c |
T |
A |
11: 49,361,261 (GRCm39) |
Y94* |
probably null |
Het |
Or51k1 |
A |
T |
7: 103,661,489 (GRCm39) |
L140Q |
probably benign |
Het |
Or5k3 |
A |
C |
16: 58,969,279 (GRCm39) |
D22A |
probably benign |
Het |
Pabpc1l |
A |
C |
2: 163,884,399 (GRCm39) |
T379P |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,071,175 (GRCm39) |
Q15L |
probably benign |
Het |
Pdk1 |
A |
G |
2: 71,726,085 (GRCm39) |
N331S |
probably benign |
Het |
Pfdn1 |
A |
T |
18: 36,584,519 (GRCm39) |
|
probably null |
Het |
Pnliprp1 |
T |
A |
19: 58,717,582 (GRCm39) |
L9H |
probably damaging |
Het |
Prl7a2 |
A |
T |
13: 27,843,076 (GRCm39) |
D242E |
possibly damaging |
Het |
Prmt9 |
T |
A |
8: 78,294,880 (GRCm39) |
I408N |
possibly damaging |
Het |
Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
Pstpip1 |
A |
T |
9: 56,035,934 (GRCm39) |
D393V |
probably damaging |
Het |
Rab5b |
A |
G |
10: 128,519,062 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
G |
A |
11: 74,283,945 (GRCm39) |
R618C |
probably damaging |
Het |
Rin1 |
A |
G |
19: 5,100,801 (GRCm39) |
|
probably benign |
Het |
Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,067,471 (GRCm39) |
T1124A |
probably damaging |
Het |
Sirpb1c |
T |
A |
3: 15,892,941 (GRCm39) |
T88S |
possibly damaging |
Het |
Slc35f6 |
T |
A |
5: 30,814,121 (GRCm39) |
I189N |
probably damaging |
Het |
Slc49a3 |
T |
A |
5: 108,596,581 (GRCm39) |
|
probably null |
Het |
Spata31d1e |
T |
A |
13: 59,889,997 (GRCm39) |
R608* |
probably null |
Het |
Spsb2 |
A |
T |
6: 124,787,244 (GRCm39) |
Q226L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,741,456 (GRCm39) |
D1221G |
possibly damaging |
Het |
Sugp1 |
G |
A |
8: 70,522,800 (GRCm39) |
R500H |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,082,078 (GRCm39) |
Y849H |
probably damaging |
Het |
Tbck |
T |
A |
3: 132,428,092 (GRCm39) |
I249N |
possibly damaging |
Het |
Tdrd6 |
A |
C |
17: 43,935,095 (GRCm39) |
F1984L |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,890,314 (GRCm39) |
V219E |
unknown |
Het |
Tpst1 |
T |
A |
5: 130,143,344 (GRCm39) |
V294D |
probably damaging |
Het |
Treml1 |
A |
G |
17: 48,667,247 (GRCm39) |
Q44R |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,969,142 (GRCm39) |
L853P |
probably damaging |
Het |
Vmn1r10 |
A |
T |
6: 57,090,615 (GRCm39) |
N69I |
possibly damaging |
Het |
Vmn1r179 |
T |
A |
7: 23,627,819 (GRCm39) |
Y3* |
probably null |
Het |
Vmn2r38 |
T |
A |
7: 9,093,728 (GRCm39) |
Y498F |
probably benign |
Het |
Zc3h11a |
T |
C |
1: 133,566,655 (GRCm39) |
T179A |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,140,169 (GRCm39) |
T3A |
probably benign |
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 |
|
R1475:Osbpl1a
|
UTSW |
18 |
12,890,737 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCTGCACTGATAACCTCTTCG -3'
(R):5'- TGTGTGTAACTCAGCTGCTTTC -3'
Sequencing Primer
(F):5'- CGTGTTTATTCTGGGGAAATTACC -3'
(R):5'- TGTTGCAGTGGAATTAGATCAAAAGC -3'
|
Posted On |
2019-05-15 |