Incidental Mutation 'A9681:Ablim1'
ID |
19 |
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 # |
A9681 (G3)
of strain
atchoum
|
Quality Score |
|
Status
|
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 57161755 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000111524]
[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 null
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: ENSMUST00000111524
|
SMART Domains |
Protein: ENSMUSP00000107149 Gene: ENSMUSG00000025085
Domain | Start | End | E-Value | Type |
LIM
|
21 |
72 |
1.14e-9 |
SMART |
LIM
|
80 |
132 |
1.37e-12 |
SMART |
LIM
|
148 |
199 |
1.12e-17 |
SMART |
|
Predicted Effect |
probably null
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 |
probably null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000156316
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133369
|
SMART Domains |
Protein: ENSMUSP00000117798 Gene: ENSMUSG00000025085
Domain | Start | End | E-Value | Type |
LIM
|
45 |
96 |
1.14e-9 |
SMART |
LIM
|
104 |
156 |
1.37e-12 |
SMART |
LIM
|
172 |
223 |
1.12e-17 |
SMART |
|
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
|
Validation Efficiency |
85% (88/103) |
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: 5 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Gm9943 |
T |
A |
17: 16,235,254 (GRCm39) |
|
|
Het |
Ints1 |
T |
C |
5: 139,755,894 (GRCm39) |
E538G |
possibly damaging |
Homo |
Or52n1 |
T |
C |
7: 104,383,610 (GRCm39) |
|
probably benign |
Het |
Pakap |
A |
G |
4: 57,855,358 (GRCm39) |
Q270R |
probably damaging |
Het |
Pld1 |
C |
A |
3: 28,139,981 (GRCm39) |
H600Q |
probably benign |
Homo |
|
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 |
|
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 |
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 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a T to C transition at position 42710 in the Genbank genomic region NC_000085 for the Ablim1 gene on chromosome 19 (GTACAGTACC->GCACAGTACC). The mutation is located within intron 2, two nucleotides from exon 2, and may impair the donor splice site of intron 2. Ablim1 contains 26 exons. Multiple isoforms of Ablim1 exist on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
Ablim1 encodes an 861 amino acid protein containing a C-terminal cytoskeletal domain known to bind to actin and four zinc finger LIM motifs near the N-terminus. The protein is associated with the cytoskeleton. Several isoforms of this protein exist with distinct expression patterns. Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.
|
Note |
also present in stock #ZE80
|
Posted On |
2009-11-06 |