Incidental Mutation 'R5277:Ablim1'
ID 404028
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 042864-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R5277 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 57021165-57303351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57143693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 89 (R89G)
Ref Sequence ENSEMBL: ENSMUSP00000107183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079360] [ENSMUST00000099294] [ENSMUST00000111524] [ENSMUST00000111544] [ENSMUST00000111546] [ENSMUST00000111550] [ENSMUST00000111555] [ENSMUST00000111558] [ENSMUST00000111559]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079360
AA Change: R152G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: R152G

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: R76G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: R76G

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 benign
Transcript: ENSMUST00000111524
AA Change: R75G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: R75G

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 damaging
Transcript: ENSMUST00000111544
AA Change: R76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: R76G

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: ENSMUST00000111546
AA Change: R76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: R76G

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 damaging
Transcript: ENSMUST00000111550
AA Change: R76G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: R76G

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: R152G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: R152G

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 unknown
Transcript: ENSMUST00000133369
AA Change: R98G
SMART Domains Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: R98G

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 probably damaging
Transcript: ENSMUST00000111558
AA Change: R89G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: R89G

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: ENSMUST00000111559
AA Change: R89G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: R89G

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 noncoding transcript
Transcript: ENSMUST00000156316
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (52/53)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,884,660 (GRCm39) T54A probably damaging Het
Bco1 T A 8: 117,844,128 (GRCm39) probably null Het
Bhmt A T 13: 93,761,393 (GRCm39) M185K possibly damaging Het
Camk2d T C 3: 126,478,390 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcaf6 A G 1: 165,251,915 (GRCm39) S70P probably benign Het
Dclre1a C T 19: 56,533,164 (GRCm39) V477I possibly damaging Het
Dnah10 C T 5: 124,905,201 (GRCm39) P4021L probably damaging Het
Dusp10 A G 1: 183,769,204 (GRCm39) N57D possibly damaging Het
Fam13b G A 18: 34,595,243 (GRCm39) R374C probably benign Het
Fyb2 G A 4: 104,872,876 (GRCm39) D686N probably damaging Het
Glra3 G A 8: 56,444,242 (GRCm39) M67I possibly damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm6180 A G 8: 42,700,177 (GRCm39) noncoding transcript Het
Grin2c A G 11: 115,144,639 (GRCm39) V629A probably damaging Het
Kif4-ps A T 12: 101,112,186 (GRCm39) noncoding transcript Het
Mc3r T C 2: 172,091,707 (GRCm39) F310L probably damaging Het
Myh4 A G 11: 67,143,180 (GRCm39) D1036G probably damaging Het
Myh6 A G 14: 55,194,019 (GRCm39) I790T probably benign Het
Myo15a C A 11: 60,367,940 (GRCm39) Y233* probably null Het
Nckap5 A T 1: 125,954,277 (GRCm39) C758* probably null Het
Neurog3 T A 10: 61,969,632 (GRCm39) Y36N probably damaging Het
Nlrp4e T C 7: 23,020,863 (GRCm39) L450P probably benign Het
Or52d13 A T 7: 103,110,148 (GRCm39) L84H probably damaging Het
Otog A G 7: 45,896,045 (GRCm39) E170G possibly damaging Het
Ppp2r2b G T 18: 42,874,207 (GRCm39) T41K probably damaging Het
Prmt5 A T 14: 54,747,399 (GRCm39) D459E probably benign Het
Ric8b G A 10: 84,783,516 (GRCm39) V125M probably damaging Het
Rptor A G 11: 119,713,782 (GRCm39) S4G probably damaging Het
Rslcan18 T G 13: 67,246,498 (GRCm39) E371D probably benign Het
Scaf11 A T 15: 96,317,107 (GRCm39) F819Y probably damaging Het
Sema6a A T 18: 47,409,611 (GRCm39) probably benign Het
Snx29 C T 16: 11,217,688 (GRCm39) T163I possibly damaging Het
Sphkap T C 1: 83,253,885 (GRCm39) N1288S probably benign Het
Tmbim7 G A 5: 3,723,192 (GRCm39) probably null Het
Tmem63c T A 12: 87,104,531 (GRCm39) probably null Het
Tmem69 A G 4: 116,410,458 (GRCm39) F171L probably benign Het
Urod A T 4: 116,847,482 (GRCm39) probably benign Het
Vmn1r37 A T 6: 66,708,460 (GRCm39) I29L probably benign Het
Vmn2r102 A G 17: 19,914,393 (GRCm39) T653A possibly damaging Het
Vmn2r75 A C 7: 85,815,500 (GRCm39) S121R probably benign Het
Vwde T C 6: 13,186,995 (GRCm39) T831A probably benign Het
Wdr70 C T 15: 8,006,465 (GRCm39) W362* probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp7 T C 15: 76,765,403 (GRCm39) V32A 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
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
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'- AAGACTCTGTACTGTTCAGGACC -3'
(R):5'- TGTCCCCAAACCGTTGAGAG -3'

Sequencing Primer
(F):5'- CTCTGTACTGTTCAGGACCAGAGG -3'
(R):5'- CCAAACCGTTGAGAGCACAGG -3'
Posted On 2016-07-22