Incidental Mutation 'R9055:Ablim1'
| ID |
688658 |
| 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 |
068881-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R9055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57030398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 753
(T753S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078336
(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 benign
Transcript: ENSMUST00000079360
AA Change: T753S
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: T753S
| 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: T546S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: T546S
| 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 benign
Transcript: ENSMUST00000104902
AA Change: T437S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: T437S
| 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: T292S
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: T292S
| 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: T346S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: T346S
| 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: T318S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: T318S
| 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 damaging
Transcript: ENSMUST00000111544
AA Change: T560S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: T560S
| 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: T593S
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: T593S
| 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: T574S
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: T574S
| 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: T669S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: T669S
| 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 damaging
Transcript: ENSMUST00000111558
AA Change: T636S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: T636S
| 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: T606S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: T606S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (68/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
A |
G |
19: 4,038,178 (GRCm39) |
E157G |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,181,867 (GRCm39) |
Y1609H |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,741,019 (GRCm39) |
A1018T |
possibly damaging |
Het |
| Ahsg |
T |
A |
16: 22,711,069 (GRCm39) |
W69R |
possibly damaging |
Het |
| Alox12 |
T |
G |
11: 70,143,903 (GRCm39) |
D159A |
probably damaging |
Het |
| Alox12b |
C |
G |
11: 69,054,884 (GRCm39) |
P296A |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,380,168 (GRCm39) |
I2507V |
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,045 (GRCm39) |
M670V |
possibly damaging |
Het |
| Aqp12 |
C |
T |
1: 92,934,627 (GRCm39) |
A168V |
probably benign |
Het |
| Ceacam1 |
A |
T |
7: 25,171,299 (GRCm39) |
D388E |
probably damaging |
Het |
| Clp1 |
A |
T |
2: 84,554,266 (GRCm39) |
I301N |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,244,398 (GRCm39) |
F384L |
probably benign |
Het |
| Dnpep |
A |
T |
1: 75,291,805 (GRCm39) |
M238K |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,996,641 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,623,360 (GRCm39) |
N98K |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,316,349 (GRCm39) |
N15K |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,965,023 (GRCm39) |
C25S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,240,494 (GRCm39) |
D745V |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,732,448 (GRCm39) |
F215S |
probably damaging |
Het |
| Gm1979 |
C |
T |
5: 26,207,032 (GRCm39) |
R107Q |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,467,677 (GRCm39) |
H173L |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,964,425 (GRCm39) |
L146H |
probably damaging |
Het |
| Gpr88 |
A |
G |
3: 116,046,300 (GRCm39) |
S4P |
unknown |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,433 (GRCm39) |
L185P |
possibly damaging |
Het |
| Hsd3b6 |
G |
T |
3: 98,713,984 (GRCm39) |
T105N |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,998,335 (GRCm39) |
Y546C |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,667,196 (GRCm39) |
I305N |
probably benign |
Het |
| Itgb3 |
G |
A |
11: 104,556,451 (GRCm39) |
W764* |
probably null |
Het |
| Klra8 |
G |
T |
6: 130,096,017 (GRCm39) |
R192S |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,839,922 (GRCm39) |
I358F |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,047,843 (GRCm39) |
D266G |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,786,493 (GRCm39) |
A219V |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,691,663 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,348,616 (GRCm39) |
C973S |
probably damaging |
Het |
| Or2k2 |
G |
T |
4: 58,785,374 (GRCm39) |
A116E |
possibly damaging |
Het |
| Or4f15 |
A |
T |
2: 111,814,049 (GRCm39) |
Y123* |
probably null |
Het |
| Or8c13 |
T |
C |
9: 38,091,780 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ostc |
T |
A |
3: 130,503,020 (GRCm39) |
E2V |
probably damaging |
Het |
| Ostc |
C |
A |
3: 130,503,021 (GRCm39) |
E2* |
probably null |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,585 (GRCm39) |
C754* |
probably null |
Het |
| Polr1a |
A |
G |
6: 71,892,053 (GRCm39) |
T111A |
possibly damaging |
Het |
| Prep |
C |
T |
10: 44,991,291 (GRCm39) |
T319M |
probably benign |
Het |
| Reg3b |
A |
C |
6: 78,349,886 (GRCm39) |
D142A |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,583,936 (GRCm39) |
D537G |
probably benign |
Het |
| Rnf2 |
G |
A |
1: 151,352,030 (GRCm39) |
L109F |
probably damaging |
Het |
| Rskr |
A |
G |
11: 78,184,373 (GRCm39) |
D240G |
probably damaging |
Het |
| Runx3 |
G |
T |
4: 134,902,656 (GRCm39) |
R262L |
probably damaging |
Het |
| Rwdd3 |
G |
T |
3: 120,952,871 (GRCm39) |
T112K |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,691,931 (GRCm39) |
H117R |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,451,958 (GRCm39) |
V1321M |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,534,040 (GRCm39) |
E119G |
possibly damaging |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,520,823 (GRCm39) |
I199F |
possibly damaging |
Het |
| St18 |
C |
T |
1: 6,873,206 (GRCm39) |
R314* |
probably null |
Het |
| Sucla2 |
T |
G |
14: 73,819,068 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,878,187 (GRCm39) |
H225L |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 133,032,380 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,828 (GRCm39) |
I66T |
probably damaging |
Het |
| Tmem45a2 |
T |
C |
16: 56,861,115 (GRCm39) |
I237M |
probably benign |
Het |
| Traf3ip1 |
C |
T |
1: 91,428,733 (GRCm39) |
R167* |
probably null |
Het |
| Trav17 |
T |
G |
14: 54,044,320 (GRCm39) |
V30G |
probably damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,100 (GRCm39) |
N5D |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,110,441 (GRCm39) |
H518R |
probably benign |
Het |
| Washc3 |
A |
G |
10: 88,051,916 (GRCm39) |
T102A |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,194,266 (GRCm39) |
H49R |
probably damaging |
Het |
| Zfp1001 |
G |
A |
2: 150,165,753 (GRCm39) |
|
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,985,109 (GRCm39) |
F356L |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,843,319 (GRCm39) |
R457L |
possibly damaging |
Het |
| Zfp512 |
G |
T |
5: 31,637,533 (GRCm39) |
E541* |
probably null |
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 |
|
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 |
|
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'- CTCAGAAAAGAGCTGTGGCC -3'
(R):5'- CACTGGGACTTCAAAGTTTGAG -3'
Sequencing Primer
(F):5'- AAAGAGCTGTGGCCCTACTGTG -3'
(R):5'- AGCCTGGGAAGGATTTTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation