Incidental Mutation 'IGL02498:Ablim1'
ID |
295895 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02498
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 57140751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 155
(C155*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000111524]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111559]
[ENSMUST00000111558]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000079360
AA Change: C209*
|
SMART Domains |
Protein: ENSMUSP00000078336 Gene: ENSMUSG00000025085 AA Change: C209*
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
AA Change: C133*
|
SMART Domains |
Protein: ENSMUSP00000096897 Gene: ENSMUSG00000025085 AA Change: C133*
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
AA Change: C132*
|
SMART Domains |
Protein: ENSMUSP00000107149 Gene: ENSMUSG00000025085 AA Change: C132*
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
AA Change: C133*
|
SMART Domains |
Protein: ENSMUSP00000107169 Gene: ENSMUSG00000025085 AA Change: C133*
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
AA Change: C133*
|
SMART Domains |
Protein: ENSMUSP00000107172 Gene: ENSMUSG00000025085 AA Change: C133*
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
AA Change: C133*
|
SMART Domains |
Protein: ENSMUSP00000107175 Gene: ENSMUSG00000025085 AA Change: C133*
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
AA Change: C209*
|
SMART Domains |
Protein: ENSMUSP00000107180 Gene: ENSMUSG00000025085 AA Change: C209*
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: ENSMUST00000111559
AA Change: C146*
|
SMART Domains |
Protein: ENSMUSP00000107184 Gene: ENSMUSG00000025085 AA Change: C146*
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 null
Transcript: ENSMUST00000111558
AA Change: C146*
|
SMART Domains |
Protein: ENSMUSP00000107183 Gene: ENSMUSG00000025085 AA Change: C146*
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 null
Transcript: ENSMUST00000133369
AA Change: C155*
|
SMART Domains |
Protein: ENSMUSP00000117798 Gene: ENSMUSG00000025085 AA Change: C155*
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 |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,617,265 (GRCm39) |
|
probably null |
Het |
Abcg8 |
T |
C |
17: 84,990,693 (GRCm39) |
W12R |
probably benign |
Het |
Adam33 |
A |
G |
2: 130,895,157 (GRCm39) |
C658R |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,664,135 (GRCm39) |
H357R |
possibly damaging |
Het |
Adamts2 |
G |
T |
11: 50,668,023 (GRCm39) |
K528N |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,893,339 (GRCm39) |
P955S |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,770,815 (GRCm39) |
I365F |
probably damaging |
Het |
AW112010 |
T |
C |
19: 11,025,701 (GRCm39) |
|
noncoding transcript |
Het |
AY358078 |
T |
C |
14: 52,040,944 (GRCm39) |
S88P |
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,372,823 (GRCm39) |
L1504S |
probably benign |
Het |
Cracdl |
T |
C |
1: 37,662,926 (GRCm39) |
T991A |
probably benign |
Het |
Dgkg |
T |
A |
16: 22,367,441 (GRCm39) |
H593L |
probably damaging |
Het |
Gm10463 |
T |
C |
5: 32,288,742 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
T |
10: 10,595,723 (GRCm39) |
L635Q |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,109,244 (GRCm39) |
C160R |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,142,821 (GRCm39) |
R252H |
probably damaging |
Het |
Litaf |
A |
G |
16: 10,784,423 (GRCm39) |
V29A |
possibly damaging |
Het |
Lmo7 |
G |
A |
14: 102,044,918 (GRCm39) |
V57I |
probably benign |
Het |
Loxl4 |
A |
T |
19: 42,593,412 (GRCm39) |
L253Q |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,870,235 (GRCm39) |
V458I |
probably benign |
Het |
Ncstn |
G |
T |
1: 171,896,159 (GRCm39) |
F506L |
probably benign |
Het |
Nedd8 |
T |
A |
14: 55,901,273 (GRCm39) |
D21V |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,943,591 (GRCm39) |
T183A |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
Phf2 |
A |
G |
13: 48,958,715 (GRCm39) |
S936P |
unknown |
Het |
Pkd1 |
T |
C |
17: 24,804,753 (GRCm39) |
I3159T |
possibly damaging |
Het |
Prrt3 |
C |
A |
6: 113,474,788 (GRCm39) |
V145F |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,217,497 (GRCm39) |
V666E |
probably damaging |
Het |
Rapgef2 |
C |
T |
3: 78,974,060 (GRCm39) |
V1577M |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,564 (GRCm39) |
|
probably benign |
Het |
Shoc2 |
T |
A |
19: 54,016,207 (GRCm39) |
L407* |
probably null |
Het |
Slc6a12 |
A |
G |
6: 121,338,029 (GRCm39) |
M435V |
probably benign |
Het |
Smarcc1 |
C |
T |
9: 110,020,002 (GRCm39) |
T623I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,289,517 (GRCm39) |
L245S |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,713 (GRCm39) |
M820K |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
Stoml2 |
C |
A |
4: 43,031,045 (GRCm39) |
V37L |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,704,444 (GRCm39) |
H465Q |
probably benign |
Het |
Tmem164 |
T |
A |
X: 141,589,044 (GRCm39) |
V40D |
possibly damaging |
Het |
Trim37 |
A |
G |
11: 87,075,876 (GRCm39) |
E494G |
probably benign |
Het |
Triobp |
A |
G |
15: 78,845,243 (GRCm39) |
D195G |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,137,837 (GRCm39) |
V2427M |
probably damaging |
Het |
Usp27x |
T |
C |
X: 7,239,780 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
T |
A |
17: 23,177,349 (GRCm39) |
V711D |
probably damaging |
Het |
Zfp940 |
T |
C |
7: 29,546,376 (GRCm39) |
T7A |
probably 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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |