Incidental Mutation 'IGL02490:Osbpl1a'
| ID |
295613 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 13015341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000119512]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000132594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154614
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
| Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
| Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
| Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
| Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
| Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
| Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
| Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
| Loxl4 |
T |
C |
19: 42,593,269 (GRCm39) |
T301A |
probably benign |
Het |
| Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
| Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,628,589 (GRCm39) |
Y339F |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
| Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,581,726 (GRCm39) |
|
probably null |
Het |
| Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
| Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
| Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
| Stk31 |
T |
C |
6: 49,394,469 (GRCm39) |
V277A |
probably benign |
Het |
| Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,047,546 (GRCm39) |
D715V |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
| Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
| Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation