Incidental Mutation 'R6997:Osbpl1a'
| ID |
544315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
045103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12889281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 432
(N432S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000080415]
[ENSMUST00000115857]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119108]
[ENSMUST00000119512]
[ENSMUST00000121018]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000150758]
[ENSMUST00000186263]
[ENSMUST00000191078]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074352
AA Change: N945S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: N945S
| 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 benign
Transcript: ENSMUST00000117361
AA Change: N432S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: N432S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118313
AA Change: N432S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: N432S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119043
AA Change: N432S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: N432S
| 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 benign
Transcript: ENSMUST00000119512
AA Change: N553S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: N553S
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121774
AA Change: N405S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: N405S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121808
AA Change: N432S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: N432S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121888
AA Change: N432S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: N432S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (58/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,171,539 (GRCm39) |
Y764C |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,095 (GRCm39) |
V267M |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,505,793 (GRCm38) |
H759L |
possibly damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,779,474 (GRCm39) |
L111P |
probably damaging |
Het |
| Ccl8 |
A |
T |
11: 82,006,865 (GRCm39) |
D26V |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,596 (GRCm39) |
|
probably benign |
Het |
| Cnga3 |
C |
A |
1: 37,283,965 (GRCm39) |
H89Q |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,056,190 (GRCm39) |
Q264L |
probably damaging |
Het |
| Coil |
A |
G |
11: 88,872,673 (GRCm39) |
T345A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,281 (GRCm39) |
L461P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,414,922 (GRCm39) |
E151G |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,168,743 (GRCm39) |
C357S |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,826,994 (GRCm39) |
I306R |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,360 (GRCm39) |
H580R |
possibly damaging |
Het |
| Ermap |
A |
T |
4: 119,035,810 (GRCm39) |
F393I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,613,151 (GRCm39) |
T217A |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,762,732 (GRCm39) |
Q745* |
probably null |
Het |
| Gja8 |
A |
G |
3: 96,826,657 (GRCm39) |
V335A |
probably benign |
Het |
| Gm21560 |
A |
T |
14: 6,218,333 (GRCm38) |
N48K |
probably damaging |
Het |
| Gpr158 |
C |
T |
2: 21,653,802 (GRCm39) |
T457I |
possibly damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,977,997 (GRCm39) |
S14T |
unknown |
Het |
| Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,142 (GRCm39) |
T1860A |
unknown |
Het |
| Map2k7 |
T |
C |
8: 4,294,035 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,881,982 (GRCm39) |
M282K |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,503,531 (GRCm39) |
I134V |
probably benign |
Het |
| Mrtfa |
G |
T |
15: 80,902,649 (GRCm39) |
S220* |
probably null |
Het |
| Msh5 |
A |
T |
17: 35,248,978 (GRCm39) |
L685Q |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,111,463 (GRCm39) |
I1634N |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,217,980 (GRCm39) |
R18* |
probably null |
Het |
| Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
| Ninl |
G |
T |
2: 150,808,145 (GRCm39) |
H294Q |
probably benign |
Het |
| Or4a79 |
G |
A |
2: 89,552,269 (GRCm39) |
A62V |
possibly damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,238 (GRCm39) |
S235T |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,607 (GRCm39) |
I214T |
possibly damaging |
Het |
| Orm3 |
T |
A |
4: 63,275,180 (GRCm39) |
L97Q |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,822 (GRCm39) |
D1020E |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,122,371 (GRCm38) |
D60E |
probably benign |
Het |
| Rack1 |
T |
A |
11: 48,694,752 (GRCm39) |
V198E |
probably damaging |
Het |
| Ripk1 |
C |
T |
13: 34,201,100 (GRCm39) |
A271V |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
T |
13: 11,669,266 (GRCm39) |
H3513N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,147 (GRCm39) |
D509E |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,233,414 (GRCm39) |
V181A |
probably benign |
Het |
| Slc5a4b |
C |
T |
10: 75,925,812 (GRCm39) |
A198T |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,848,552 (GRCm39) |
R357H |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
G |
A |
15: 54,115,770 (GRCm39) |
L276F |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,118 (GRCm39) |
V723A |
probably benign |
Het |
| Usp45 |
G |
T |
4: 21,781,844 (GRCm39) |
R36I |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,838,737 (GRCm39) |
D2269G |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,338 (GRCm39) |
M719L |
possibly damaging |
Het |
| Vmn2r52 |
C |
T |
7: 9,902,998 (GRCm39) |
G477R |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,791,716 (GRCm39) |
N546K |
probably benign |
Het |
| Wnt8b |
G |
A |
19: 44,500,280 (GRCm39) |
C289Y |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,329,925 (GRCm39) |
M10R |
probably benign |
Het |
| Zfp945 |
T |
A |
17: 23,071,543 (GRCm39) |
K140* |
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 |
|
|
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 |
|
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'- AGCTTCTCACTGGCCATGAG -3'
(R):5'- GGTCACTCAGGACATCCATGAC -3'
Sequencing Primer
(F):5'- TCACTGGCCATGAGCAGGG -3'
(R):5'- GGACATCCATGACACACAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation