Incidental Mutation 'R4354:Ablim1'
| ID |
327466 |
| 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 |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57143710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 83
(C83Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107184
(fasta)
|
| 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 damaging
Transcript: ENSMUST00000079360
AA Change: C146Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: C146Y
| 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: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: C70Y
| 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: ENSMUST00000111524
AA Change: C69Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: C69Y
| 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 damaging
Transcript: ENSMUST00000111544
AA Change: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: C70Y
| 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: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: C70Y
| 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: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: C70Y
| 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: C146Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: C146Y
| 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 |
unknown
Transcript: ENSMUST00000133369
AA Change: C92Y
|
| SMART Domains |
Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: C92Y
| 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 damaging
Transcript: ENSMUST00000111559
AA Change: C83Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: C83Y
| 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 damaging
Transcript: ENSMUST00000111558
AA Change: C83Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: C83Y
| 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
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCAAAGCTCTGGATGCTG -3'
(R):5'- AATAAATGGCTCTTTGTGCTCG -3'
Sequencing Primer
(F):5'- CAAAGCTCTGGATGCTGAAGCC -3'
(R):5'- GGCTCTTTGTGCTCGTCCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation