Incidental Mutation 'IGL00422:Ablim1'
| ID | 277578 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| 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 |
|---|
| Accession Numbers | Genbank: NM_178688; MGI: 1194500 |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.481)
|
|---|
| Stock # | IGL00422
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 57032733-57314919 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to T
at 57068186 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Alanine to Threonine
at position 359
(A359T)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107183
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: A438T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: A438T
| 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 damaging
Transcript: ENSMUST00000099294
AA Change: A318T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: A318T
| 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: A122T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: A122T
| 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 damaging
Transcript: ENSMUST00000111526
AA Change: A52T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: A52T
| 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 damaging
Transcript: ENSMUST00000111528
AA Change: A106T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: A106T
| 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: A78T
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: A78T
| 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: A318T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: A318T
| 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 |
probably damaging
Transcript: ENSMUST00000111546
AA Change: A318T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: A318T
| 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 damaging
Transcript: ENSMUST00000111550
AA Change: A346T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: A346T
| 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 damaging
Transcript: ENSMUST00000111555
AA Change: A394T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: A394T
| 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: A359T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: A359T
| 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: A331T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: A331T
| 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: ENSMUST00000156316
|
|---|
| Coding Region Coverage |
|
|---|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajuba |
A |
T |
14: 54,571,769 |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,699,829 |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,798,449 |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,227,167 |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,896,637 |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,758,029 |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 71,001,620 |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,313,236 |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,068,096 |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,055,681 |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,405,853 |
|
probably null |
Het |
| Gm5346 |
A |
G |
8: 43,626,351 |
F279L |
probably damaging |
Het |
| Gm7535 |
G |
T |
17: 17,911,888 |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 124,885,013 |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 36,987,840 |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,675,427 |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,276,532 |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,638,963 |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,668,469 |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,687,738 |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 132,040,594 |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,126,098 |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,069,490 |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,669,066 |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 30,081,104 |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,629,525 |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,629,523 |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,161,017 |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,097,866 |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 74,780,816 |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,256,676 |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 |
H490L |
possibly damaging |
Het |
|
|---|
| Other mutations in Ablim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1588: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 |
|
R7111:Ablim1
|
UTSW |
19 |
57073877 |
missense |
probably benign |
0.05 |
|
R7291:Ablim1
|
UTSW |
19 |
57215908 |
missense |
probably benign |
|
|
R7363:Ablim1
|
UTSW |
19 |
57215741 |
missense |
probably benign |
0.10 |
|
|---|
| Posted On | 2015-04-16 |
|---|
