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) question?
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*

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 null
Transcript: ENSMUST00000099294
AA Change: C133*
SMART Domains Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: C133*

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 null
Transcript: ENSMUST00000111524
AA Change: C132*
SMART Domains Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: C132*

DomainStartEndE-ValueType
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*

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 null
Transcript: ENSMUST00000111546
AA Change: C133*
SMART Domains Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: C133*

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 probably null
Transcript: ENSMUST00000111550
AA Change: C133*
SMART Domains Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: C133*

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 null
Transcript: ENSMUST00000111555
AA Change: C209*
SMART Domains Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: C209*

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 null
Transcript: ENSMUST00000111559
AA Change: C146*
SMART Domains Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: C146*

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 null
Transcript: ENSMUST00000111558
AA Change: C146*
SMART Domains Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: C146*

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 null
Transcript: ENSMUST00000133369
AA Change: C155*
SMART Domains Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: C155*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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