Incidental Mutation 'R6662:Ablim1'
| ID | 528042 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| 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 |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | Genbank: NM_178688; MGI: 1194500 |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.453)
|
|---|
| Stock # | R6662 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 57032733-57314919 bp(-) (GRCm38) |
|---|
| Type of Mutation | critical splice donor site (2 bp from exon) |
|---|
| DNA Base Change (assembly) |
A to G
at 57073853 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127818
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
|---|
| 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 benign
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: ENSMUST00000104902
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111526
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111528
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
| 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 |
probably benign
Transcript: ENSMUST00000111529
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
| 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 benign
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 benign
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 benign
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 benign
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 benign
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 |
probably benign
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 |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133782
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134430
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
|---|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
|---|
| Validation Efficiency |
100% (46/46) |
|---|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
G |
11: 116,175,323 |
Y418H |
probably damaging |
Het |
| Akr1b3 |
C |
T |
6: 34,310,004 |
V206M |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,214,655 |
V196I |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,118,615 |
K44E |
probably damaging |
Het |
| Bad |
T |
A |
19: 6,951,070 |
|
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,226,339 |
Q60K |
possibly damaging |
Het |
| Casp6 |
A |
G |
3: 129,912,226 |
T181A |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,719,513 |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,690,794 |
L46P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,064,069 |
L364S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,529,850 |
I15T |
probably benign |
Het |
| D730048I06Rik |
C |
A |
9: 35,790,000 |
R6M |
possibly damaging |
Het |
| Dph5 |
G |
A |
3: 115,928,556 |
E228K |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,956,821 |
L2023F |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,148,247 |
N351D |
probably benign |
Het |
| Gm14124 |
G |
A |
2: 150,266,252 |
|
probably null |
Het |
| Grm2 |
C |
T |
9: 106,648,053 |
A488T |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,611,937 |
E171G |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,336,875 |
|
probably null |
Het |
| Itih5 |
A |
T |
2: 10,249,181 |
I748F |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,007,611 |
D520Y |
probably damaging |
Het |
| Mgat5 |
C |
A |
1: 127,469,237 |
H574N |
probably damaging |
Het |
| Moxd1 |
A |
C |
10: 24,284,760 |
D437A |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,506,166 |
F888L |
probably benign |
Het |
| Ncs1 |
T |
A |
2: 31,287,360 |
L183Q |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 85,663,215 |
D206E |
probably damaging |
Het |
| Omp |
A |
G |
7: 98,145,339 |
L27P |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,287 |
S161P |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,601,898 |
I381M |
possibly damaging |
Het |
| Pramel5 |
A |
T |
4: 144,273,105 |
N137K |
probably benign |
Het |
| Prss33 |
T |
C |
17: 23,833,960 |
S247G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,546,038 |
L425Q |
possibly damaging |
Het |
| Setx |
A |
T |
2: 29,158,114 |
D1909V |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,457,346 |
K402* |
probably null |
Het |
| Slco1a6 |
G |
A |
6: 142,133,215 |
T118I |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,128,416 |
L6769P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,659,489 |
V199D |
possibly damaging |
Het |
| Tchp |
A |
G |
5: 114,720,015 |
|
probably null |
Het |
| Trdn |
A |
T |
10: 33,474,487 |
N684I |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,854,996 |
T700K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,755,898 |
V20084I |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,509,306 |
Y62* |
probably null |
Het |
| Uckl1 |
A |
G |
2: 181,573,260 |
Y267H |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,826,986 |
N41D |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,662,085 |
S310P |
probably damaging |
Het |
|
|---|
| Other mutations in Ablim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
R7984:Ablim1
|
UTSW |
19 |
57131002 |
splice site |
probably null |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TTTACCTTAGGAGAGAGCTGGAAAG -3'
(R):5'- GAAATAGTCTCTGGTTGGCAGG -3'
Sequencing Primer
(F):5'- GCTCTTTGCTGCCCCAC -3'
(R):5'- TTGGCAGGTGTGTGTACC -3'
|
|---|
| Posted On | 2018-07-24 |
|---|
