Incidental Mutation 'R2021:Ablim1'
ID |
224056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ablim1
|
Ensembl Gene |
ENSMUSG00000025085 |
Gene Name |
actin-binding LIM protein 1 |
Synonyms |
4833406P10Rik, 9330196J19Rik, 2610209L21Rik, Limab1, 2210411C18Rik, abLIM-S, abLIM-M, abLIM-L |
MMRRC Submission |
040030-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.355)
|
Stock # |
R2021 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57035450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 316
(S316T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: S632T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078336 Gene: ENSMUSG00000025085 AA Change: S632T
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
|
SMART Domains |
Protein: ENSMUSP00000096897 Gene: ENSMUSG00000025085
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 damaging
Transcript: ENSMUST00000104902
AA Change: S316T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127818 Gene: ENSMUSG00000025085 AA Change: S316T
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 |
possibly damaging
Transcript: ENSMUST00000111526
AA Change: S171T
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107151 Gene: ENSMUSG00000025085 AA Change: S171T
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 |
possibly damaging
Transcript: ENSMUST00000111528
AA Change: S225T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107153 Gene: ENSMUSG00000025085 AA Change: S225T
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 |
possibly damaging
Transcript: ENSMUST00000111529
AA Change: S197T
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107154 Gene: ENSMUSG00000025085 AA Change: S197T
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: ENSMUST00000111555
AA Change: S548T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107180 Gene: ENSMUSG00000025085 AA Change: S548T
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: S515T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107183 Gene: ENSMUSG00000025085 AA Change: S515T
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 benign
Transcript: ENSMUST00000111559
AA Change: S485T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000107184 Gene: ENSMUSG00000025085 AA Change: S485T
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 |
probably benign
Transcript: ENSMUST00000111544
AA Change: S439T
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000107169 Gene: ENSMUSG00000025085 AA Change: S439T
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: S472T
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107172 Gene: ENSMUSG00000025085 AA Change: S472T
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 |
noncoding transcript
Transcript: ENSMUST00000127198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111550
|
SMART Domains |
Protein: ENSMUSP00000107175 Gene: ENSMUSG00000025085
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox8 |
C |
T |
11: 69,077,114 (GRCm39) |
V460I |
probably damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,908,385 (GRCm39) |
S462P |
probably damaging |
Het |
Arvcf |
G |
A |
16: 18,218,482 (GRCm39) |
A491T |
probably damaging |
Het |
Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,756,968 (GRCm39) |
L706P |
probably damaging |
Het |
Camk2d |
T |
A |
3: 126,574,105 (GRCm39) |
W171R |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,712,332 (GRCm39) |
S124T |
probably benign |
Het |
Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
Ccdc182 |
T |
C |
11: 88,184,962 (GRCm39) |
V14A |
possibly damaging |
Het |
Ccdc80 |
A |
T |
16: 44,943,275 (GRCm39) |
Q795L |
probably damaging |
Het |
Ccdc88a |
T |
G |
11: 29,453,480 (GRCm39) |
S1614R |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,822,114 (GRCm39) |
A1170T |
possibly damaging |
Het |
Clcn6 |
A |
G |
4: 148,095,109 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,313,360 (GRCm39) |
V3070A |
probably benign |
Het |
Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,306,300 (GRCm39) |
I276N |
probably damaging |
Het |
Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,668 (GRCm39) |
D306E |
probably benign |
Het |
Grk2 |
T |
A |
19: 4,340,698 (GRCm39) |
I254F |
probably damaging |
Het |
Hgf |
C |
T |
5: 16,781,919 (GRCm39) |
T214I |
probably benign |
Het |
Hoxc5 |
C |
A |
15: 102,922,814 (GRCm39) |
|
probably null |
Het |
Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
Ipp |
A |
G |
4: 116,372,565 (GRCm39) |
Y198C |
probably benign |
Het |
Ism1 |
T |
A |
2: 139,582,047 (GRCm39) |
|
probably null |
Het |
Klhl42 |
A |
G |
6: 146,993,394 (GRCm39) |
Y122C |
possibly damaging |
Het |
Klk1b21 |
A |
T |
7: 43,755,418 (GRCm39) |
K206* |
probably null |
Het |
Lcn11 |
A |
G |
2: 25,668,097 (GRCm39) |
K85R |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,082,545 (GRCm39) |
N1372Y |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
G |
4: 41,480,255 (GRCm39) |
D46G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,958,000 (GRCm39) |
D3567N |
probably benign |
Het |
Or1j17 |
G |
C |
2: 36,578,487 (GRCm39) |
V158L |
probably benign |
Het |
Or2z9 |
G |
T |
8: 72,853,930 (GRCm39) |
V109F |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,433 (GRCm39) |
L324* |
probably null |
Het |
Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,494,873 (GRCm39) |
V748I |
probably benign |
Het |
Prss47 |
A |
G |
13: 65,199,591 (GRCm39) |
V96A |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,821,789 (GRCm39) |
T8I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,816,496 (GRCm39) |
I177F |
probably benign |
Het |
Sh3bp2 |
A |
G |
5: 34,701,569 (GRCm39) |
|
probably benign |
Het |
Slc7a12 |
A |
G |
3: 14,562,393 (GRCm39) |
T257A |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
Specc1l |
T |
C |
10: 75,103,425 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,534,716 (GRCm39) |
T3658A |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,928,392 (GRCm39) |
W407R |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,101,725 (GRCm39) |
T68A |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,679,592 (GRCm39) |
I189V |
probably benign |
Het |
Trrap |
A |
G |
5: 144,790,298 (GRCm39) |
N3586S |
possibly damaging |
Het |
Usp14 |
T |
C |
18: 10,024,632 (GRCm39) |
T22A |
probably damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
Vmn2r108 |
G |
A |
17: 20,691,252 (GRCm39) |
H424Y |
probably benign |
Het |
Wdr81 |
C |
A |
11: 75,336,788 (GRCm39) |
E1534* |
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,635 (GRCm39) |
E976G |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,623,956 (GRCm39) |
L108P |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,783,548 (GRCm39) |
I1000V |
possibly damaging |
Het |
|
Other mutations in Ablim1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00422:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00466:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00478:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00847:Ablim1
|
APN |
19 |
57,140,722 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01063:Ablim1
|
APN |
19 |
57,049,760 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01304:Ablim1
|
APN |
19 |
57,204,153 (GRCm39) |
missense |
probably benign |
|
IGL01385:Ablim1
|
APN |
19 |
57,057,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01707:Ablim1
|
APN |
19 |
57,027,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02386:Ablim1
|
APN |
19 |
57,123,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Ablim1
|
APN |
19 |
57,068,312 (GRCm39) |
splice site |
probably benign |
|
IGL02498:Ablim1
|
APN |
19 |
57,140,751 (GRCm39) |
nonsense |
probably null |
|
A9681:Ablim1
|
UTSW |
19 |
57,161,755 (GRCm39) |
critical splice donor site |
probably null |
|
R0089:Ablim1
|
UTSW |
19 |
57,031,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Ablim1
|
UTSW |
19 |
57,032,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R1419:Ablim1
|
UTSW |
19 |
57,123,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Ablim1
|
UTSW |
19 |
57,056,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Ablim1
|
UTSW |
19 |
57,071,979 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1588:Ablim1
|
UTSW |
19 |
57,071,979 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1935:Ablim1
|
UTSW |
19 |
57,204,397 (GRCm39) |
start gained |
probably null |
|
R1936:Ablim1
|
UTSW |
19 |
57,204,397 (GRCm39) |
start gained |
probably null |
|
R2110:Ablim1
|
UTSW |
19 |
57,032,245 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2270:Ablim1
|
UTSW |
19 |
57,065,863 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2509:Ablim1
|
UTSW |
19 |
57,140,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R3621:Ablim1
|
UTSW |
19 |
57,140,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R3732:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3732:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3733:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3734:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3878:Ablim1
|
UTSW |
19 |
57,025,642 (GRCm39) |
splice site |
probably null |
|
R4354:Ablim1
|
UTSW |
19 |
57,143,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4543:Ablim1
|
UTSW |
19 |
57,065,874 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4749:Ablim1
|
UTSW |
19 |
57,204,153 (GRCm39) |
missense |
probably benign |
|
R4860:Ablim1
|
UTSW |
19 |
57,068,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Ablim1
|
UTSW |
19 |
57,068,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R5072:Ablim1
|
UTSW |
19 |
57,062,285 (GRCm39) |
critical splice donor site |
probably null |
|
R5277:Ablim1
|
UTSW |
19 |
57,143,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Ablim1
|
UTSW |
19 |
57,143,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R5354:Ablim1
|
UTSW |
19 |
57,119,355 (GRCm39) |
missense |
probably benign |
0.07 |
R5893:Ablim1
|
UTSW |
19 |
57,204,285 (GRCm39) |
missense |
probably benign |
0.07 |
R5958:Ablim1
|
UTSW |
19 |
57,030,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6435:Ablim1
|
UTSW |
19 |
57,049,787 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6460:Ablim1
|
UTSW |
19 |
57,068,271 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6642:Ablim1
|
UTSW |
19 |
57,119,284 (GRCm39) |
missense |
probably benign |
0.03 |
R6662:Ablim1
|
UTSW |
19 |
57,062,285 (GRCm39) |
critical splice donor site |
probably null |
|
R6705:Ablim1
|
UTSW |
19 |
57,204,253 (GRCm39) |
missense |
probably benign |
0.01 |
R7111:Ablim1
|
UTSW |
19 |
57,062,309 (GRCm39) |
missense |
probably benign |
0.05 |
R7291:Ablim1
|
UTSW |
19 |
57,204,340 (GRCm39) |
missense |
probably benign |
|
R7363:Ablim1
|
UTSW |
19 |
57,204,173 (GRCm39) |
missense |
probably benign |
0.10 |
R7901:Ablim1
|
UTSW |
19 |
57,119,434 (GRCm39) |
splice site |
probably null |
|
R7974:Ablim1
|
UTSW |
19 |
57,033,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8079:Ablim1
|
UTSW |
19 |
57,170,656 (GRCm39) |
critical splice donor site |
probably null |
|
R8087:Ablim1
|
UTSW |
19 |
57,170,688 (GRCm39) |
missense |
|
|
R8120:Ablim1
|
UTSW |
19 |
57,035,360 (GRCm39) |
missense |
probably benign |
0.00 |
R8277:Ablim1
|
UTSW |
19 |
57,204,351 (GRCm39) |
missense |
probably benign |
0.10 |
R8339:Ablim1
|
UTSW |
19 |
57,032,281 (GRCm39) |
missense |
probably benign |
0.00 |
R8536:Ablim1
|
UTSW |
19 |
57,170,718 (GRCm39) |
intron |
probably benign |
|
R8857:Ablim1
|
UTSW |
19 |
57,119,287 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8875:Ablim1
|
UTSW |
19 |
57,119,386 (GRCm39) |
missense |
probably benign |
0.00 |
R8983:Ablim1
|
UTSW |
19 |
57,227,644 (GRCm39) |
missense |
probably benign |
0.02 |
R9055:Ablim1
|
UTSW |
19 |
57,030,398 (GRCm39) |
missense |
probably benign |
0.10 |
R9475:Ablim1
|
UTSW |
19 |
57,227,612 (GRCm39) |
missense |
probably benign |
0.00 |
R9505:Ablim1
|
UTSW |
19 |
57,185,782 (GRCm39) |
intron |
probably benign |
|
R9695:Ablim1
|
UTSW |
19 |
57,170,739 (GRCm39) |
missense |
|
|
R9762:Ablim1
|
UTSW |
19 |
57,025,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGTGGGGAGAGCTTTGTAAC -3'
(R):5'- TCGGAGTTCTAGCTCTGGACTC -3'
Sequencing Primer
(F):5'- ACTTTTGAGCATTTGGGATATACAC -3'
(R):5'- ACTCTGGGGCACTCAGTGAAG -3'
|
Posted On |
2014-08-25 |