Incidental Mutation 'R8557:Ablim2'
ID 660148
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 068520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8557 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35915224-36042317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35985483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 260 (H260L)
Ref Sequence ENSEMBL: ENSMUSP00000123525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114203] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347] [ENSMUST00000130233] [ENSMUST00000150146]
AlphaFold Q8BL65
Predicted Effect probably damaging
Transcript: ENSMUST00000054598
AA Change: H260L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 278 296 N/A INTRINSIC
low complexity region 364 373 N/A INTRINSIC
low complexity region 477 489 N/A INTRINSIC
VHP 577 612 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101280
AA Change: H260L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 297 315 N/A INTRINSIC
low complexity region 383 392 N/A INTRINSIC
low complexity region 511 523 N/A INTRINSIC
VHP 572 607 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114203
AA Change: H17L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
AA Change: H17L

DomainStartEndE-ValueType
PDB:1WIG|A 1 28 5e-13 PDB
low complexity region 35 53 N/A INTRINSIC
low complexity region 132 141 N/A INTRINSIC
low complexity region 211 223 N/A INTRINSIC
VHP 311 346 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114204
AA Change: H260L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 278 296 N/A INTRINSIC
low complexity region 364 373 N/A INTRINSIC
low complexity region 510 522 N/A INTRINSIC
VHP 571 606 2.34e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114205
AA Change: H260L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 278 296 N/A INTRINSIC
low complexity region 364 373 N/A INTRINSIC
low complexity region 477 489 N/A INTRINSIC
VHP 538 573 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114206
AA Change: H260L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 278 296 N/A INTRINSIC
low complexity region 375 384 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
VHP 582 617 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114210
AA Change: H260L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
low complexity region 278 296 N/A INTRINSIC
low complexity region 364 373 N/A INTRINSIC
low complexity region 510 522 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129347
AA Change: H260L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: H260L

DomainStartEndE-ValueType
LIM 23 74 2.76e-8 SMART
LIM 82 134 1.26e-11 SMART
LIM 152 203 9.6e-17 SMART
LIM 211 263 4.96e-10 SMART
Pfam:AbLIM_anchor 295 513 2.1e-78 PFAM
Pfam:AbLIM_anchor 497 628 2.6e-37 PFAM
VHP 629 664 2.34e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130233
AA Change: H17L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118159
Gene: ENSMUSG00000029095
AA Change: H17L

DomainStartEndE-ValueType
Blast:LIM 1 20 3e-6 BLAST
PDB:1WIG|A 1 28 7e-13 PDB
low complexity region 54 72 N/A INTRINSIC
low complexity region 151 160 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000150146
Predicted Effect probably benign
Transcript: ENSMUST00000151322
SMART Domains Protein: ENSMUSP00000114616
Gene: ENSMUSG00000029095

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 12 164 4.3e-55 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095
AA Change: H5L

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 22 148 5.6e-54 PFAM
low complexity region 171 183 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,055,954 (GRCm39) V230A probably benign Het
Acp4 C T 7: 43,905,272 (GRCm39) probably null Het
Acvr2b G T 9: 119,261,654 (GRCm39) V416L probably damaging Het
Adipoq A T 16: 22,965,430 (GRCm39) probably benign Het
Amhr2 A G 15: 102,362,847 (GRCm39) Q538R probably benign Het
Apoh C T 11: 108,300,062 (GRCm39) T237I probably damaging Het
Aspm C T 1: 139,384,494 (GRCm39) T97I probably benign Het
Atg16l2 A T 7: 100,939,863 (GRCm39) H499Q probably benign Het
Bicdl2 G A 17: 23,886,536 (GRCm39) R375H probably benign Het
C3 T C 17: 57,531,383 (GRCm39) T304A probably benign Het
Cast A T 13: 74,852,301 (GRCm39) D647E probably damaging Het
Chrm2 T C 6: 36,501,010 (GRCm39) V289A probably benign Het
Clock T C 5: 76,377,217 (GRCm39) D694G probably damaging Het
Cyp4a31 C T 4: 115,427,438 (GRCm39) R215C possibly damaging Het
Dctn2 T C 10: 127,114,062 (GRCm39) L334P probably damaging Het
Dnah11 A G 12: 117,842,247 (GRCm39) I4444T probably benign Het
Egf C A 3: 129,548,600 (GRCm39) R5L unknown Het
Ercc1 A G 7: 19,082,480 (GRCm39) N11S probably benign Het
Eri3 T C 4: 117,472,520 (GRCm39) S113P possibly damaging Het
Fasn A G 11: 120,706,610 (GRCm39) V958A probably benign Het
Fgf10 A G 13: 118,918,132 (GRCm39) K140R probably benign Het
Gfra2 G A 14: 71,214,737 (GRCm39) M163I probably benign Het
Gm14403 T C 2: 177,201,354 (GRCm39) I191T probably damaging Het
Hdlbp T A 1: 93,341,219 (GRCm39) E977D probably damaging Het
Hectd4 A G 5: 121,448,714 (GRCm39) N354S possibly damaging Het
Hpgds A T 6: 65,096,999 (GRCm39) I170N probably benign Het
Limk2 A G 11: 3,296,379 (GRCm39) V356A possibly damaging Het
Map4 A G 9: 109,893,370 (GRCm39) probably null Het
Mettl13 C T 1: 162,371,921 (GRCm39) G316D possibly damaging Het
Mia2 T A 12: 59,148,274 (GRCm39) L45I probably damaging Het
Mier1 T A 4: 102,996,543 (GRCm39) probably null Het
Mob3a G T 10: 80,527,008 (GRCm39) R106S probably benign Het
Mug2 T A 6: 122,040,660 (GRCm39) F737I probably damaging Het
Myo7a C T 7: 97,703,081 (GRCm39) A2053T probably benign Het
Myrip A G 9: 120,246,252 (GRCm39) S127G probably benign Het
Naaladl2 T A 3: 24,262,528 (GRCm39) K395I probably benign Het
Nedd4l A T 18: 65,336,986 (GRCm39) M678L probably benign Het
Nefh A T 11: 4,891,233 (GRCm39) I462N probably damaging Het
Nfe2 A G 15: 103,157,025 (GRCm39) M322T probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z2 T A 11: 58,346,562 (GRCm39) D71V probably damaging Het
Or56b1 T A 7: 104,285,103 (GRCm39) V74E possibly damaging Het
Pkdcc A G 17: 83,528,495 (GRCm39) N288S probably benign Het
Sacs G A 14: 61,444,725 (GRCm39) C2257Y probably damaging Het
Sec23a G T 12: 59,052,056 (GRCm39) Q90K probably damaging Het
Shisal2a T A 4: 108,225,085 (GRCm39) N159I probably benign Het
Slc30a6 A G 17: 74,712,685 (GRCm39) T61A possibly damaging Het
Slc39a11 C A 11: 113,141,385 (GRCm39) A234S probably damaging Het
Smg6 C A 11: 75,047,064 (GRCm39) N1252K probably damaging Het
Spata2 A T 2: 167,326,227 (GRCm39) D197E probably damaging Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Spocd1 T C 4: 129,842,761 (GRCm39) F59L probably damaging Het
Tectb T A 19: 55,181,105 (GRCm39) probably benign Het
Tnnc1 G A 14: 30,932,562 (GRCm39) V82I probably damaging Het
Traf7 A T 17: 24,729,015 (GRCm39) V513D probably damaging Het
Tut4 T A 4: 108,399,908 (GRCm39) probably null Het
Vmn2r111 A T 17: 22,790,910 (GRCm39) Y129* probably null Het
Vrtn T A 12: 84,696,690 (GRCm39) F480Y probably benign Het
Vwa8 A T 14: 79,246,649 (GRCm39) I664F probably damaging Het
Vwde A T 6: 13,193,136 (GRCm39) V401E probably damaging Het
Zfp655 A T 5: 145,180,835 (GRCm39) N231I probably benign Het
Other mutations in Ablim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Ablim2 APN 5 35,981,359 (GRCm39) unclassified probably benign
IGL00945:Ablim2 APN 5 35,994,364 (GRCm39) missense probably damaging 1.00
IGL02439:Ablim2 APN 5 36,015,206 (GRCm39) missense possibly damaging 0.89
IGL02664:Ablim2 APN 5 36,006,860 (GRCm39) missense probably damaging 1.00
IGL02897:Ablim2 APN 5 35,990,470 (GRCm39) missense probably damaging 1.00
IGL03034:Ablim2 APN 5 35,985,509 (GRCm39) missense probably benign 0.00
IGL03096:Ablim2 APN 5 36,040,743 (GRCm39) nonsense probably null
IGL03384:Ablim2 APN 5 36,032,216 (GRCm39) missense probably damaging 1.00
R0128:Ablim2 UTSW 5 35,966,520 (GRCm39) splice site probably benign
R0130:Ablim2 UTSW 5 35,966,520 (GRCm39) splice site probably benign
R0212:Ablim2 UTSW 5 36,006,254 (GRCm39) splice site probably null
R0344:Ablim2 UTSW 5 35,994,277 (GRCm39) splice site probably benign
R0675:Ablim2 UTSW 5 36,024,124 (GRCm39) splice site probably benign
R0788:Ablim2 UTSW 5 36,015,245 (GRCm39) missense probably benign 0.01
R1148:Ablim2 UTSW 5 35,966,605 (GRCm39) missense probably damaging 1.00
R1148:Ablim2 UTSW 5 35,966,605 (GRCm39) missense probably damaging 1.00
R1493:Ablim2 UTSW 5 35,966,605 (GRCm39) missense probably damaging 1.00
R1809:Ablim2 UTSW 5 36,000,614 (GRCm39) intron probably benign
R2070:Ablim2 UTSW 5 35,955,857 (GRCm39) missense probably damaging 1.00
R2163:Ablim2 UTSW 5 35,959,697 (GRCm39) splice site probably benign
R3962:Ablim2 UTSW 5 35,969,519 (GRCm39) missense probably damaging 1.00
R4852:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4853:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4854:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4855:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4866:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4867:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4906:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4908:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4909:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R4927:Ablim2 UTSW 5 35,959,766 (GRCm39) missense possibly damaging 0.85
R5210:Ablim2 UTSW 5 35,994,416 (GRCm39) missense probably benign 0.44
R5225:Ablim2 UTSW 5 36,024,115 (GRCm39) splice site probably null
R5439:Ablim2 UTSW 5 36,015,170 (GRCm39) missense probably damaging 0.98
R5528:Ablim2 UTSW 5 36,013,510 (GRCm39) nonsense probably null
R5629:Ablim2 UTSW 5 36,014,507 (GRCm39) missense probably benign 0.01
R5653:Ablim2 UTSW 5 36,040,756 (GRCm39) missense probably damaging 1.00
R5921:Ablim2 UTSW 5 35,969,555 (GRCm39) missense probably damaging 1.00
R6059:Ablim2 UTSW 5 36,014,508 (GRCm39) missense probably benign 0.37
R6241:Ablim2 UTSW 5 36,032,241 (GRCm39) missense probably damaging 1.00
R7492:Ablim2 UTSW 5 35,998,673 (GRCm39) missense probably benign 0.14
R7562:Ablim2 UTSW 5 36,030,563 (GRCm39) missense probably benign 0.00
R7960:Ablim2 UTSW 5 36,014,493 (GRCm39) missense probably benign 0.01
R8414:Ablim2 UTSW 5 36,032,235 (GRCm39) missense possibly damaging 0.95
R8690:Ablim2 UTSW 5 36,030,518 (GRCm39) missense possibly damaging 0.48
R8710:Ablim2 UTSW 5 36,030,518 (GRCm39) missense possibly damaging 0.48
R8713:Ablim2 UTSW 5 36,030,518 (GRCm39) missense possibly damaging 0.48
R9059:Ablim2 UTSW 5 35,959,850 (GRCm39) missense probably damaging 1.00
R9452:Ablim2 UTSW 5 36,015,198 (GRCm39) missense probably benign 0.00
R9622:Ablim2 UTSW 5 36,006,889 (GRCm39) missense probably damaging 1.00
Z1176:Ablim2 UTSW 5 36,006,202 (GRCm39) missense possibly damaging 0.84
Z1177:Ablim2 UTSW 5 35,998,637 (GRCm39) small deletion probably benign
Z1177:Ablim2 UTSW 5 35,981,387 (GRCm39) missense probably damaging 0.98
Z1188:Ablim2 UTSW 5 35,994,367 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCTTCCACATGAGCCAAGC -3'
(R):5'- CTCCATTAGAGCTGCATGATGG -3'

Sequencing Primer
(F):5'- AAGCTGCCCCAACCAGGTG -3'
(R):5'- TGCATGATGGCTCACTGAC -3'
Posted On 2021-01-18