Incidental Mutation 'R7901:Ablim1'
ID 628580
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 045953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R7901 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 57021165-57303351 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 57119434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000079360
SMART Domains Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000099294
SMART Domains Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085

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
SMART Domains Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111544
SMART Domains Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111546
SMART Domains Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111550
SMART Domains Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111555
SMART Domains Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111558
SMART Domains Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085

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 benign
Transcript: ENSMUST00000111559
SMART Domains Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085

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: ENSMUST00000133369
SMART Domains Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085

DomainStartEndE-ValueType
LIM 45 96 1.14e-9 SMART
LIM 104 156 1.37e-12 SMART
LIM 172 223 1.12e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,222,300 (GRCm39) V409A probably benign Het
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Asb8 T C 15: 98,040,614 (GRCm39) Y16C probably damaging Het
Atp6v0a2 C T 5: 124,779,485 (GRCm39) T200I probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cenpf G T 1: 189,389,445 (GRCm39) D1462E probably damaging Het
Clcn6 C T 4: 148,095,202 (GRCm39) R736H probably damaging Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Crybg3 T C 16: 59,377,907 (GRCm39) T1116A probably damaging Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Ddx17 A T 15: 79,422,789 (GRCm39) D316E probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Ell2 A T 13: 75,912,105 (GRCm39) K464* probably null Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Etl4 T C 2: 20,294,821 (GRCm39) S2P possibly damaging Het
Fndc9 T C 11: 46,128,576 (GRCm39) Y32H probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gabrg2 A G 11: 41,867,418 (GRCm39) V67A probably benign Het
Gm4553 ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG 7: 141,718,602 (GRCm39) probably benign Het
Gm5145 A C 17: 20,790,900 (GRCm39) I93L possibly damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gsc T A 12: 104,439,131 (GRCm39) S82C possibly damaging Het
H2-T10 C T 17: 36,431,143 (GRCm39) E173K probably benign Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Klra4 A G 6: 130,040,113 (GRCm39) L53P probably damaging Het
Lct A G 1: 128,216,722 (GRCm39) Y1697H probably benign Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Muc13 A G 16: 33,636,211 (GRCm39) Q565R probably damaging Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Or51a6 T C 7: 102,604,887 (GRCm39) probably null Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppip5k1 T C 2: 121,142,390 (GRCm39) Q1353R probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc45a4 G A 15: 73,477,621 (GRCm39) probably benign Het
Snx13 T A 12: 35,150,624 (GRCm39) D309E probably benign Het
Spcs1 A G 14: 30,722,628 (GRCm39) Y64H probably benign Het
Tep1 A T 14: 51,064,308 (GRCm39) Y2434N possibly damaging Het
Tnpo3 T C 6: 29,568,990 (GRCm39) E454G possibly damaging Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttc6 C T 12: 57,735,353 (GRCm39) R1132W probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Uts2r G A 11: 121,052,234 (GRCm39) S366N probably benign Het
Wbp4 A T 14: 79,709,845 (GRCm39) V130E probably damaging Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q 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
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
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'- GGACCTCTCATCTAAGCTGAAAG -3'
(R):5'- GGAAGATGTGGAACTTGGTACC -3'

Sequencing Primer
(F):5'- TCTCATCTAAGCTGAAAGTGCAAAC -3'
(R):5'- AGGTCCTGTGTTCAAATCAACC -3'
Posted On 2020-05-11