Incidental Mutation 'R1588:Ablim1'
|
List
[record 1 of 1308] next >> last >|
|
| ID | 177678 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Ablim1
|
|---|
| Ensembl Gene |
ENSMUSG00000025085 |
|---|
| Gene Name | actin-binding LIM protein 1 |
|---|
| Synonyms | 2210411C18Rik, abLIM-L, abLIM-M, 4833406P10Rik, abLIM-S, 9330196J19Rik, 2610209L21Rik, Limab1 |
|---|
| MMRRC Submission |
039625-MU
|
|---|
| Accession Numbers | Genbank: NM_178688; MGI: 1194500 |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.414)
|
|---|
| Stock # | R1588 (G1)
|
|---|
| Quality Score | 219 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 57032733-57314919 bp(-) (GRCm38) |
|---|
| Type of Mutation | start codon destroyed |
|---|
| DNA Base Change (assembly) |
C to T
at 57083547 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107153
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079360
AA Change: M317I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: M317I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LIM
|
98 |
149 |
1.14e-9 |
SMART |
|
LIM
|
157 |
209 |
1.37e-12 |
SMART |
|
LIM
|
225 |
276 |
1.12e-17 |
SMART |
|
LIM
|
284 |
336 |
5.87e-12 |
SMART |
|
Pfam:AbLIM_anchor
|
393 |
825 |
1.9e-139 |
PFAM |
|
VHP
|
826 |
861 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099294
AA Change: M241I
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: M241I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
531 |
N/A |
INTRINSIC |
|
VHP
|
619 |
654 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000104902
AA Change: M1I
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
1e-8 |
PDB |
|
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
358 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
VHP
|
510 |
545 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111526
AA Change: M1I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
2e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
6e-9 |
PDB |
|
coiled coil region
|
213 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
|
VHP
|
365 |
400 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111528
AA Change: M1I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
8e-9 |
PDB |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
|
VHP
|
419 |
454 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111529
AA Change: M1I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
8e-9 |
PDB |
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
239 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
VHP
|
391 |
426 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111544
AA Change: M241I
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: M241I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
427 |
N/A |
INTRINSIC |
|
coiled coil region
|
481 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
545 |
N/A |
INTRINSIC |
|
VHP
|
633 |
668 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111546
AA Change: M241I
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: M241I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
5.7e-12 |
SMART |
|
LIM
|
81 |
133 |
6.6e-15 |
SMART |
|
LIM
|
149 |
200 |
5.4e-20 |
SMART |
|
LIM
|
208 |
260 |
2.8e-14 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
|
VHP
|
666 |
700 |
1.2e-15 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111550
AA Change: M241I
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: M241I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
312 |
321 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
|
VHP
|
647 |
682 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111555
AA Change: M317I
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: M317I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LIM
|
98 |
149 |
1.14e-9 |
SMART |
|
LIM
|
157 |
209 |
1.37e-12 |
SMART |
|
LIM
|
225 |
276 |
1.12e-17 |
SMART |
|
LIM
|
284 |
336 |
5.87e-12 |
SMART |
|
low complexity region
|
360 |
369 |
N/A |
INTRINSIC |
|
coiled coil region
|
590 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
654 |
N/A |
INTRINSIC |
|
VHP
|
742 |
777 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111558
AA Change: M254I
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: M254I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
35 |
86 |
1.14e-9 |
SMART |
|
LIM
|
94 |
146 |
1.37e-12 |
SMART |
|
LIM
|
162 |
213 |
1.12e-17 |
SMART |
|
LIM
|
221 |
273 |
5.87e-12 |
SMART |
|
low complexity region
|
325 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
503 |
N/A |
INTRINSIC |
|
coiled coil region
|
557 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
621 |
N/A |
INTRINSIC |
|
VHP
|
709 |
744 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111559
AA Change: M254I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: M254I
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
35 |
86 |
1.14e-9 |
SMART |
|
LIM
|
94 |
146 |
1.37e-12 |
SMART |
|
LIM
|
162 |
213 |
1.12e-17 |
SMART |
|
LIM
|
221 |
273 |
5.87e-12 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
coiled coil region
|
527 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
591 |
N/A |
INTRINSIC |
|
VHP
|
679 |
714 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133782
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134430
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
|---|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections. [provided by MGI curators]
|
|---|
| Allele List at MGI | All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4) |
|---|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,534,072 |
V869A |
probably benign |
Het |
| Adamts13 |
A |
T |
2: 26,975,675 |
I81F |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,510,245 |
N1567K |
possibly damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,741,736 |
T261M |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,741,025 |
I326V |
probably benign |
Het |
| Casp8ap2 |
G |
A |
4: 32,640,541 |
A532T |
probably benign |
Het |
| Ccdc129 |
A |
G |
6: 55,978,503 |
E1032G |
possibly damaging |
Het |
| Ccdc134 |
A |
G |
15: 82,135,136 |
T187A |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,190,407 |
N359D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,927,821 |
L82P |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,307,373 |
R404S |
probably benign |
Het |
| Chrng |
C |
A |
1: 87,207,507 |
F179L |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,391 |
I326K |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,083,028 |
T243A |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,665,864 |
V1502A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,841,679 |
V216A |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,283,404 |
V2161G |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,319,114 |
T2169A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,365,698 |
V581A |
unknown |
Het |
| Gm13088 |
G |
T |
4: 143,655,551 |
L192M |
probably damaging |
Het |
| Hip1r |
A |
T |
5: 123,996,575 |
D350V |
probably damaging |
Het |
| Ift140 |
G |
A |
17: 25,087,985 |
R898H |
probably damaging |
Het |
| Il12a |
A |
G |
3: 68,695,563 |
I159V |
probably benign |
Het |
| Kl |
A |
G |
5: 150,982,632 |
E489G |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,013,898 |
E461G |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,494,654 |
Y177C |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,702,872 |
Y187N |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,217,785 |
V1002A |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,780,077 |
Y683* |
probably null |
Het |
| Olfr1053 |
T |
C |
2: 86,314,530 |
Y252C |
probably damaging |
Het |
| Olfr1362 |
C |
T |
13: 21,611,913 |
D19N |
probably benign |
Het |
| Olfr71 |
C |
T |
4: 43,705,923 |
C215Y |
probably damaging |
Het |
| Olfr742 |
A |
G |
14: 50,516,127 |
I308V |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,579,216 |
V367A |
probably benign |
Het |
| Phip |
A |
G |
9: 82,900,828 |
W855R |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,380,385 |
S1131G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,817,241 |
V1498E |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 105,051,223 |
N152D |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,443,594 |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,002,559 |
V732M |
probably damaging |
Het |
| Rccd1 |
C |
T |
7: 80,320,111 |
W223* |
probably null |
Het |
| Riox2 |
T |
A |
16: 59,475,583 |
S16T |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,521,301 |
V836I |
probably damaging |
Het |
| Serpinf1 |
G |
A |
11: 75,410,250 |
R380C |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 54,997,177 |
N912K |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,164,744 |
C134S |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,928,727 |
C123* |
probably null |
Het |
| Slc16a13 |
G |
T |
11: 70,218,595 |
S360* |
probably null |
Het |
| Srr |
A |
G |
11: 74,908,803 |
I282T |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 64,223,817 |
F607L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,709,526 |
D34372G |
probably benign |
Het |
| Tub |
C |
T |
7: 109,029,681 |
T401I |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,256,236 |
E9G |
probably damaging |
Het |
| Wdyhv1 |
T |
A |
15: 58,157,889 |
|
probably null |
Het |
| Yipf3 |
T |
A |
17: 46,250,861 |
F198Y |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,241,817 |
R447K |
probably benign |
Het |
|
|---|
| Other mutations in Ablim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00466:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00478:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00847:Ablim1
|
APN |
19 |
57152290 |
missense |
possibly damaging |
0.59 |
|
IGL01063:Ablim1
|
APN |
19 |
57061328 |
missense |
probably damaging |
1.00 |
|
IGL01304:Ablim1
|
APN |
19 |
57215721 |
missense |
probably benign |
|
|
IGL01385:Ablim1
|
APN |
19 |
57068914 |
missense |
probably damaging |
1.00 |
|
IGL01707:Ablim1
|
APN |
19 |
57039447 |
missense |
probably damaging |
1.00 |
|
IGL02386:Ablim1
|
APN |
19 |
57134654 |
missense |
probably damaging |
1.00 |
|
IGL02427:Ablim1
|
APN |
19 |
57079880 |
splice site |
probably benign |
|
|
IGL02498:Ablim1
|
APN |
19 |
57152319 |
nonsense |
probably null |
|
|
A9681:Ablim1
|
UTSW |
19 |
57173323 |
critical splice donor site |
probably null |
|
|
R0089:Ablim1
|
UTSW |
19 |
57043031 |
missense |
probably damaging |
1.00 |
|
R0226:Ablim1
|
UTSW |
19 |
57043870 |
missense |
probably damaging |
1.00 |
|
R1419:Ablim1
|
UTSW |
19 |
57134633 |
missense |
probably damaging |
1.00 |
|
R1473:Ablim1
|
UTSW |
19 |
57068236 |
missense |
probably damaging |
1.00 |
|
R1587:Ablim1
|
UTSW |
19 |
57083547 |
start codon destroyed |
probably null |
0.99 |
|
R1935:Ablim1
|
UTSW |
19 |
57215965 |
start gained |
probably null |
|
|
R1936:Ablim1
|
UTSW |
19 |
57215965 |
start gained |
probably null |
|
|
R2021:Ablim1
|
UTSW |
19 |
57047018 |
missense |
probably damaging |
0.98 |
|
R2110:Ablim1
|
UTSW |
19 |
57043813 |
missense |
possibly damaging |
0.83 |
|
R2270:Ablim1
|
UTSW |
19 |
57077431 |
missense |
possibly damaging |
0.58 |
|
R2509:Ablim1
|
UTSW |
19 |
57152359 |
missense |
probably damaging |
1.00 |
|
R3621:Ablim1
|
UTSW |
19 |
57152303 |
missense |
probably damaging |
0.97 |
|
R3732:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3732:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3733:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3734:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3878:Ablim1
|
UTSW |
19 |
57037210 |
utr 3 prime |
probably null |
|
|
R4354:Ablim1
|
UTSW |
19 |
57155278 |
missense |
probably damaging |
1.00 |
|
R4543:Ablim1
|
UTSW |
19 |
57077442 |
missense |
possibly damaging |
0.87 |
|
R4749:Ablim1
|
UTSW |
19 |
57215721 |
missense |
probably benign |
|
|
R4860:Ablim1
|
UTSW |
19 |
57079866 |
missense |
probably damaging |
1.00 |
|
R4860:Ablim1
|
UTSW |
19 |
57079866 |
missense |
probably damaging |
1.00 |
|
R5072:Ablim1
|
UTSW |
19 |
57073853 |
critical splice donor site |
probably null |
|
|
R5277:Ablim1
|
UTSW |
19 |
57155261 |
missense |
probably damaging |
1.00 |
|
R5331:Ablim1
|
UTSW |
19 |
57155249 |
missense |
probably damaging |
1.00 |
|
R5354:Ablim1
|
UTSW |
19 |
57130923 |
missense |
probably benign |
0.07 |
|
R5893:Ablim1
|
UTSW |
19 |
57215853 |
missense |
probably benign |
0.07 |
|
R5958:Ablim1
|
UTSW |
19 |
57041935 |
missense |
probably damaging |
1.00 |
|
R6435:Ablim1
|
UTSW |
19 |
57061355 |
missense |
possibly damaging |
0.69 |
|
R6460:Ablim1
|
UTSW |
19 |
57079839 |
missense |
possibly damaging |
0.96 |
|
R6642:Ablim1
|
UTSW |
19 |
57130852 |
missense |
probably benign |
0.03 |
|
R6662:Ablim1
|
UTSW |
19 |
57073853 |
critical splice donor site |
probably null |
|
|
R6705:Ablim1
|
UTSW |
19 |
57215821 |
missense |
probably benign |
0.01 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGGTAGCTCTAGCACATGCCC -3'
(R):5'- AGAGACAAGGCCACCGTCATTCTG -3'
Sequencing Primer
(F):5'- TAGCACATGCCCGATGGATTTAG -3'
(R):5'- TTACCATTTGGGCCAACAGAG -3'
|
|---|
| Posted On | 2014-04-24 |
|---|
