Incidental Mutation 'R2109:Osbpl1a'
| ID |
232422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl1a
|
| Ensembl Gene |
ENSMUSG00000044252 |
| Gene Name |
oxysterol binding protein-like 1A |
| Synonyms |
G430090F17Rik, LOC328902 |
| MMRRC Submission |
040113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2109 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12888371-13074898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12892457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 332
(Q332P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000080415]
[ENSMUST00000115857]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119108]
[ENSMUST00000119512]
[ENSMUST00000121774]
[ENSMUST00000121808]
[ENSMUST00000121888]
[ENSMUST00000186263]
[ENSMUST00000191078]
[ENSMUST00000121018]
[ENSMUST00000150758]
|
| AlphaFold |
Q91XL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074352
AA Change: Q845P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: Q845P
| 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: Q332P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: Q332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118313
AA Change: Q332P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: Q332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119043
AA Change: Q332P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: Q332P
| 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: Q453P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: Q453P
| 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: ENSMUST00000121774
AA Change: Q305P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: Q305P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121808
AA Change: Q332P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: Q332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121888
AA Change: Q332P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: Q332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145777
|
| 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 |
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
G |
T |
7: 43,900,435 (GRCm39) |
R113S |
probably benign |
Het |
| Ackr2 |
A |
T |
9: 121,738,026 (GRCm39) |
I134F |
probably damaging |
Het |
| Actr3b |
T |
A |
5: 26,036,709 (GRCm39) |
I174N |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,094,847 (GRCm39) |
S2214T |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,890,768 (GRCm39) |
R986L |
possibly damaging |
Het |
| Brap |
G |
T |
5: 121,801,422 (GRCm39) |
S59I |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,598,578 (GRCm39) |
H65Y |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,612,004 (GRCm39) |
T121A |
probably damaging |
Het |
| Capn1 |
T |
A |
19: 6,064,388 (GRCm39) |
Y37F |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,869,650 (GRCm39) |
K726E |
probably damaging |
Het |
| Cd300lb |
G |
A |
11: 114,816,865 (GRCm39) |
S195F |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,264 (GRCm39) |
K307E |
probably damaging |
Het |
| Chodl |
A |
C |
16: 78,738,251 (GRCm39) |
N73T |
possibly damaging |
Het |
| Cimip2c |
G |
A |
5: 30,637,851 (GRCm39) |
G66E |
probably damaging |
Het |
| Crnn |
A |
T |
3: 93,055,747 (GRCm39) |
M178L |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,110 (GRCm39) |
D221G |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,406,498 (GRCm39) |
I303N |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,097 (GRCm39) |
V2338A |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,928,411 (GRCm39) |
P2086Q |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,725,346 (GRCm39) |
I486V |
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,524,855 (GRCm39) |
S265P |
probably damaging |
Het |
| Eif1b |
A |
G |
9: 120,323,296 (GRCm39) |
D52G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,790,153 (GRCm39) |
T602S |
probably benign |
Het |
| Exoc3l2 |
A |
T |
7: 19,223,059 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
C |
A |
15: 76,421,173 (GRCm39) |
V297F |
probably damaging |
Het |
| Fgr |
T |
A |
4: 132,725,786 (GRCm39) |
N398K |
probably benign |
Het |
| G3bp1 |
A |
G |
11: 55,379,986 (GRCm39) |
R107G |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,155 (GRCm39) |
N186K |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,217,831 (GRCm39) |
L249* |
probably null |
Het |
| Hmgcs2 |
T |
A |
3: 98,204,337 (GRCm39) |
L246* |
probably null |
Het |
| Hsp90ab1 |
G |
T |
17: 45,880,254 (GRCm39) |
H96Q |
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,588,603 (GRCm39) |
V1078I |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,212,530 (GRCm39) |
D677G |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,887,405 (GRCm39) |
T3078I |
possibly damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,402 (GRCm39) |
F199S |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,592 (GRCm39) |
T1814I |
probably damaging |
Het |
| Msantd5l |
T |
A |
11: 51,145,264 (GRCm39) |
I108F |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,800,763 (GRCm39) |
F766I |
probably benign |
Het |
| Nbl1 |
T |
A |
4: 138,810,915 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
A |
19: 18,618,802 (GRCm39) |
L118Q |
probably damaging |
Het |
| Nopchap1 |
C |
T |
10: 83,201,656 (GRCm39) |
S143L |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,082 (GRCm39) |
L172H |
probably damaging |
Het |
| Or2y11 |
T |
G |
11: 49,443,260 (GRCm39) |
S229A |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,243,709 (GRCm39) |
F921L |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,069,054 (GRCm39) |
S1086G |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,369,942 (GRCm39) |
T18A |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,276 (GRCm39) |
S955T |
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,960,413 (GRCm39) |
I639N |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,505,254 (GRCm39) |
I852T |
probably benign |
Het |
| Prps1l1 |
A |
G |
12: 35,035,521 (GRCm39) |
K212R |
probably benign |
Het |
| Ptpn5 |
A |
G |
7: 46,735,807 (GRCm39) |
Y304H |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,973 (GRCm39) |
I281T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,099,880 (GRCm39) |
Y278* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,333,489 (GRCm39) |
Y2899* |
probably null |
Het |
| Rttn |
C |
T |
18: 89,004,197 (GRCm39) |
T397I |
possibly damaging |
Het |
| Sacs |
G |
T |
14: 61,410,902 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
G |
T |
7: 110,060,419 (GRCm39) |
Q182K |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,968 (GRCm39) |
R105* |
probably null |
Het |
| Sh2b1 |
A |
T |
7: 126,071,536 (GRCm39) |
D216E |
possibly damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,920,008 (GRCm39) |
N72S |
possibly damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,015,619 (GRCm39) |
I391F |
probably damaging |
Het |
| Slc36a2 |
G |
A |
11: 55,072,381 (GRCm39) |
A77V |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,474,987 (GRCm39) |
I888L |
probably benign |
Het |
| Smoc1 |
C |
T |
12: 81,197,450 (GRCm39) |
T194M |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,630 (GRCm39) |
G93R |
probably benign |
Het |
| Sox30 |
T |
G |
11: 45,882,595 (GRCm39) |
F542V |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,206,030 (GRCm39) |
V116A |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,063,966 (GRCm39) |
D330G |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,796,384 (GRCm39) |
S202A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,601,443 (GRCm39) |
T151I |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,527 (GRCm39) |
E361G |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,746,009 (GRCm39) |
D305E |
probably damaging |
Het |
| Tpp1 |
A |
G |
7: 105,399,177 (GRCm39) |
L133P |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,215,243 (GRCm39) |
M41K |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,549 (GRCm39) |
D9G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,804,598 (GRCm39) |
I225F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,457,298 (GRCm39) |
K313R |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,555,379 (GRCm39) |
V425A |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,971,445 (GRCm39) |
Y153* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,861,273 (GRCm39) |
S478G |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,707,969 (GRCm39) |
E77G |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,008,496 (GRCm39) |
M154T |
probably benign |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp763 |
G |
T |
17: 33,238,752 (GRCm39) |
A131E |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,711,651 (GRCm39) |
V32E |
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 |
|
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'- AAGGACCCTTAGCAAAGCTC -3'
(R):5'- ACAAGGAGTTTCAGCCCTTCTG -3'
Sequencing Primer
(F):5'- TTAGCAAAGCTCTACCCAGC -3'
(R):5'- GCTCTGAGACTTTCTTTAGTAGTCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation