Incidental Mutation 'IGL00478:Ablim1'
ID 277560
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) question?
Stock # IGL00478
Quality Score
Status
Chromosome 19
Chromosomal Location 57021165-57303351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57056618 bp (GRCm39)
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] [ENSMUST00000111559] [ENSMUST00000111550] [ENSMUST00000111555] [ENSMUST00000111558] [ENSMUST00000111546]
AlphaFold no structure available at present
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000111559
AA Change: A331T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: A331T

DomainStartEndE-ValueType
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: ENSMUST00000111550
AA Change: A346T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: A346T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000111546
AA Change: A318T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: A318T

DomainStartEndE-ValueType
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,774,604 (GRCm39) T578A possibly damaging Het
Akap9 G A 5: 4,096,639 (GRCm39) V2505M probably damaging Het
Alpk2 A T 18: 65,440,297 (GRCm39) C365* probably null Het
C920021L13Rik A T 3: 95,794,797 (GRCm39) probably benign Het
Chd3 A T 11: 69,247,888 (GRCm39) V905E probably damaging Het
Cntrl T C 2: 35,050,613 (GRCm39) V1529A probably damaging Het
Coro2a T C 4: 46,540,455 (GRCm39) D488G probably benign Het
Dpf1 G T 7: 29,015,981 (GRCm39) probably benign Het
Fga T A 3: 82,935,951 (GRCm39) D59E probably benign Het
Ggh T A 4: 20,057,965 (GRCm39) H175Q probably benign Het
Glyat T C 19: 12,625,497 (GRCm39) probably benign Het
Gpr137c T C 14: 45,516,202 (GRCm39) V312A probably damaging Het
Myt1 T C 2: 181,442,908 (GRCm39) S466P probably damaging Het
Nlrp5 A T 7: 23,141,213 (GRCm39) D1078V probably damaging Het
Rad17 T C 13: 100,769,782 (GRCm39) D259G probably damaging Het
Rpp14 G A 14: 8,083,934 (GRCm38) G30E possibly damaging Het
Uspl1 A T 5: 149,152,024 (GRCm39) T1075S possibly damaging Het
Vash1 T A 12: 86,727,042 (GRCm39) I94N possibly damaging Het
Zfp770 T C 2: 114,027,946 (GRCm39) E41G probably damaging Het
Other mutations in Ablim1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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