Incidental Mutation 'R5072:Ablim1'
| ID |
388928 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5072 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 57062285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079360
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
| 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 null
Transcript: ENSMUST00000104902
|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111526
|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111528
|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111529
|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
| 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 |
probably benign
Transcript: ENSMUST00000111544
|
| SMART Domains |
Protein: ENSMUSP00000107169
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 |
|
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 |
noncoding transcript
Transcript: ENSMUST00000133782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111546
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111555
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
| 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 |
probably benign
Transcript: ENSMUST00000111558
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.9%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,414 (GRCm39) |
H104Q |
probably benign |
Het |
| 4933405L10Rik |
A |
G |
8: 106,436,201 (GRCm39) |
T158A |
possibly damaging |
Het |
| A1cf |
T |
C |
19: 31,895,385 (GRCm39) |
M156T |
probably benign |
Het |
| Abca15 |
A |
G |
7: 120,006,198 (GRCm39) |
Y1620C |
probably damaging |
Het |
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Acox2 |
A |
T |
14: 8,241,374 (GRCm38) |
Y579* |
probably null |
Het |
| Adnp |
A |
T |
2: 168,024,921 (GRCm39) |
S791R |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,665 (GRCm39) |
E329G |
probably damaging |
Het |
| Alx3 |
G |
T |
3: 107,512,109 (GRCm39) |
S249I |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,714 (GRCm39) |
T2366A |
probably benign |
Het |
| Apool |
C |
T |
X: 111,259,540 (GRCm39) |
Q60* |
probably null |
Het |
| Arid4a |
T |
C |
12: 71,091,853 (GRCm39) |
V213A |
probably benign |
Het |
| Atp7a |
A |
G |
X: 105,153,374 (GRCm39) |
D1092G |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,007,892 (GRCm39) |
E178V |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,854,193 (GRCm39) |
E47K |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,390,074 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
T |
A |
5: 122,259,118 (GRCm39) |
Q260L |
probably benign |
Het |
| Ccdc83 |
A |
T |
7: 89,899,737 (GRCm39) |
F45Y |
probably damaging |
Het |
| Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ces5a |
C |
T |
8: 94,261,296 (GRCm39) |
V44M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,608,794 (GRCm39) |
I741T |
possibly damaging |
Het |
| Cnst |
C |
A |
1: 179,450,451 (GRCm39) |
D638E |
possibly damaging |
Het |
| Col13a1 |
A |
G |
10: 61,709,797 (GRCm39) |
|
silent |
Het |
| Cyp2a22 |
A |
T |
7: 26,631,906 (GRCm39) |
F450Y |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
| Cyp4a29 |
A |
G |
4: 115,104,860 (GRCm39) |
T123A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,590,191 (GRCm39) |
|
probably null |
Het |
| Dnaja3 |
A |
T |
16: 4,514,289 (GRCm39) |
T274S |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,620,480 (GRCm39) |
D514G |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,114,254 (GRCm39) |
K1226M |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,421,639 (GRCm39) |
Y281C |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,926,256 (GRCm39) |
W313R |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gprasp2 |
C |
T |
X: 134,743,346 (GRCm39) |
T235I |
possibly damaging |
Het |
| Gtf2ird1 |
G |
T |
5: 134,419,787 (GRCm39) |
|
probably null |
Het |
| H2ab3 |
T |
C |
X: 119,222,543 (GRCm39) |
T84A |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,128,099 (GRCm39) |
|
probably benign |
Het |
| Hal |
A |
T |
10: 93,349,904 (GRCm39) |
I555F |
probably damaging |
Het |
| Hdac6 |
A |
G |
X: 7,811,036 (GRCm39) |
F104L |
probably damaging |
Homo |
| Hspg2 |
T |
C |
4: 137,267,541 (GRCm39) |
S2050P |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,132,196 (GRCm39) |
D207G |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Kiss1r |
C |
A |
10: 79,754,596 (GRCm39) |
S30* |
probably null |
Het |
| Krtap1-4 |
C |
G |
11: 99,474,442 (GRCm39) |
|
probably benign |
Het |
| Lrrfip2 |
A |
G |
9: 111,028,872 (GRCm39) |
E365G |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,206,307 (GRCm39) |
Y121H |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,966,074 (GRCm39) |
|
probably null |
Het |
| Mllt10 |
C |
A |
2: 18,114,685 (GRCm39) |
H52N |
possibly damaging |
Het |
| Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,543,288 (GRCm39) |
|
probably null |
Het |
| Myo3b |
C |
A |
2: 69,925,593 (GRCm39) |
T20K |
possibly damaging |
Het |
| Nipsnap2 |
A |
T |
5: 129,816,644 (GRCm39) |
K62N |
probably damaging |
Het |
| Nr1i3 |
C |
T |
1: 171,044,382 (GRCm39) |
T169I |
probably benign |
Het |
| Numbl |
G |
A |
7: 26,980,415 (GRCm39) |
D466N |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,782,550 (GRCm39) |
S398G |
probably benign |
Het |
| Or14c46 |
A |
G |
7: 85,918,799 (GRCm39) |
I66T |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,325 (GRCm39) |
R195W |
probably damaging |
Het |
| Or6k2 |
A |
T |
1: 173,986,527 (GRCm39) |
I63F |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
| Pilra |
A |
G |
5: 137,833,674 (GRCm39) |
F131L |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,603,226 (GRCm39) |
F91S |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,906,742 (GRCm39) |
S1184R |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,058,390 (GRCm39) |
V140I |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,945,763 (GRCm39) |
D444E |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,643,498 (GRCm39) |
T95M |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,766 (GRCm39) |
K383E |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,375,963 (GRCm39) |
F86I |
possibly damaging |
Het |
| Rims2 |
T |
C |
15: 39,325,986 (GRCm39) |
F773L |
probably benign |
Het |
| Sdcbp |
A |
G |
4: 6,393,019 (GRCm39) |
I218V |
probably benign |
Het |
| Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,884,508 (GRCm39) |
L626P |
possibly damaging |
Het |
| Snrpd3 |
G |
T |
10: 75,355,227 (GRCm39) |
C20F |
possibly damaging |
Het |
| Spen |
A |
T |
4: 141,249,613 (GRCm39) |
S58R |
unknown |
Het |
| St3gal2 |
T |
C |
8: 111,684,350 (GRCm39) |
C3R |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,699,422 (GRCm39) |
I481N |
probably benign |
Het |
| Stat5b |
T |
C |
11: 100,699,361 (GRCm39) |
|
probably null |
Het |
| Tmco3 |
G |
T |
8: 13,342,860 (GRCm39) |
E199* |
probably null |
Het |
| Tmem26 |
A |
G |
10: 68,611,178 (GRCm39) |
T216A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,822 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,602,709 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,576,746 (GRCm39) |
V24716I |
probably damaging |
Het |
| Uba5 |
T |
C |
9: 103,931,626 (GRCm39) |
E202G |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,254,780 (GRCm39) |
Y559H |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,259,948 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
C |
A |
17: 22,767,022 (GRCm39) |
C825F |
probably damaging |
Het |
| Vmn2r113 |
T |
A |
17: 23,177,329 (GRCm39) |
C704* |
probably null |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,983 (GRCm39) |
I761T |
probably benign |
Het |
| Vmn2r98 |
C |
T |
17: 19,286,306 (GRCm39) |
T268I |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,564,704 (GRCm39) |
R240G |
possibly damaging |
Het |
| Zfp473 |
T |
A |
7: 44,381,943 (GRCm39) |
I797F |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,604,579 (GRCm39) |
D543E |
probably benign |
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 |
|
|
R2021:Ablim1
|
UTSW |
19 |
57,035,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTTACCTTAGGAGAGAGCTGGAAAG -3'
(R):5'- AAATAGTCTCTGGTTGGCAGG -3'
Sequencing Primer
(F):5'- GCTCTTTGCTGCCCCAC -3'
(R):5'- TTGGCAGGTGTGTGTACC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation