Incidental Mutation 'R5921:Ablim2'
ID 461569
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 044118-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5921 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35915224-36042317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35969555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 223 (V223M)
Ref Sequence ENSEMBL: ENSMUSP00000123525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114203] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347] [ENSMUST00000150146] [ENSMUST00000130233]
AlphaFold Q8BL65
Predicted Effect probably damaging
Transcript: ENSMUST00000054598
AA Change: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: V223M

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: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: V223M

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 benign
Transcript: ENSMUST00000114203
SMART Domains Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095

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: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: V223M

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 probably damaging
Transcript: ENSMUST00000114205
AA Change: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: V223M

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: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: V223M

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: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: V223M

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: V223M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: V223M

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 benign
Transcript: ENSMUST00000150146
Predicted Effect probably benign
Transcript: ENSMUST00000130233
SMART Domains Protein: ENSMUSP00000118159
Gene: ENSMUSG00000029095

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
Meta Mutation Damage Score 0.1547 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 95% (70/74)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,070,747 (GRCm39) S623P probably benign Het
Aqp7 G T 4: 41,036,093 (GRCm39) N48K probably benign Het
Asic4 A G 1: 75,428,017 (GRCm39) N181S probably benign Het
Blvra A T 2: 126,929,283 (GRCm39) probably benign Het
Bmf C A 2: 118,363,034 (GRCm39) probably benign Het
Bnc2 A T 4: 84,211,292 (GRCm39) I454N possibly damaging Het
Catsperg1 A T 7: 28,889,948 (GRCm39) L700H possibly damaging Het
Ccdc14 T C 16: 34,526,761 (GRCm39) V222A probably damaging Het
Cfap97d2 G T 8: 13,784,840 (GRCm39) A34S probably damaging Het
Clstn3 A T 6: 124,408,539 (GRCm39) probably benign Het
Col15a1 A T 4: 47,300,602 (GRCm39) I1066F probably damaging Het
Dcdc2c T C 12: 28,574,774 (GRCm39) E116G possibly damaging Het
Dop1a G A 9: 86,383,975 (GRCm39) S310N probably damaging Het
Dync1h1 T A 12: 110,584,802 (GRCm39) V735E probably damaging Het
Eva1a T C 6: 82,069,140 (GRCm39) Y156H probably damaging Het
Fbxw26 A G 9: 109,575,086 (GRCm39) I13T probably damaging Het
Fermt2 A T 14: 45,702,203 (GRCm39) L527Q probably damaging Het
Fxyd4 G A 6: 117,913,099 (GRCm39) probably benign Het
Gal A G 19: 3,460,100 (GRCm39) S124P probably damaging Het
Glmp T C 3: 88,233,283 (GRCm39) S56P probably benign Het
Gm5600 T C 7: 113,307,413 (GRCm39) noncoding transcript Het
Golga2 A G 2: 32,187,767 (GRCm39) N194S probably benign Het
Gon4l T C 3: 88,817,254 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,246,426 (GRCm39) Y895N probably damaging Het
Hsd3b1 C A 3: 98,765,215 (GRCm39) M22I probably benign Het
Ipo13 A C 4: 117,769,286 (GRCm39) L169V probably benign Het
Kif13a G T 13: 46,978,776 (GRCm39) T208K probably damaging Het
Klhl5 G T 5: 65,320,299 (GRCm39) A618S probably damaging Het
Lrig2 A T 3: 104,370,070 (GRCm39) L496* probably null Het
Macf1 A G 4: 123,420,504 (GRCm39) I250T probably benign Het
Man1a A G 10: 53,783,606 (GRCm39) I632T probably damaging Het
Nav2 A G 7: 48,954,324 (GRCm39) probably benign Het
Nek8 A G 11: 78,063,885 (GRCm39) M40T probably damaging Het
Oas3 T C 5: 120,908,046 (GRCm39) D298G probably damaging Het
Ociad1 A G 5: 73,467,725 (GRCm39) D167G probably benign Het
Or14j4 A T 17: 37,921,110 (GRCm39) C177* probably null Het
Or8s5 T C 15: 98,238,310 (GRCm39) T187A probably benign Het
Or9s13 T A 1: 92,548,344 (GRCm39) S239T probably benign Het
Pafah2 G T 4: 134,145,380 (GRCm39) V255L probably benign Het
Pde10a A G 17: 9,149,369 (GRCm39) Y407C probably damaging Het
Pirb A C 7: 3,719,693 (GRCm39) Y484* probably null Het
Prl8a6 A G 13: 27,621,171 (GRCm39) S20P probably damaging Het
R3hdm4 A T 10: 79,749,453 (GRCm39) V52E probably damaging Het
Rab3ip A G 10: 116,775,152 (GRCm39) Y69H probably damaging Het
Rxrg T C 1: 167,466,808 (GRCm39) M330T possibly damaging Het
Sema4g G T 19: 44,987,143 (GRCm39) G460V probably benign Het
Sidt1 T C 16: 44,094,098 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,065,595 (GRCm39) D943E probably benign Het
Slc12a4 T C 8: 106,671,876 (GRCm39) probably null Het
Slc4a3 T G 1: 75,534,088 (GRCm39) probably null Het
Slc4a8 C T 15: 100,712,328 (GRCm39) probably benign Het
Srcap T A 7: 127,158,005 (GRCm39) probably benign Het
Stk39 A G 2: 68,196,449 (GRCm39) S327P probably damaging Het
Tbc1d5 G A 17: 51,270,721 (GRCm39) T170M probably damaging Het
Trim13 T A 14: 61,842,538 (GRCm39) F185Y probably benign Het
Ttc17 A G 2: 94,209,193 (GRCm39) V87A probably damaging Het
Ttn A T 2: 76,551,207 (GRCm39) M31395K possibly damaging Het
Usp34 T A 11: 23,414,686 (GRCm39) D2876E probably damaging Het
Uvssa T C 5: 33,547,096 (GRCm39) S221P probably benign Het
Vmn2r93 T A 17: 18,546,030 (GRCm39) L634Q probably damaging Het
Vmp1 C T 11: 86,477,336 (GRCm39) A355T probably benign Het
Xpo5 A T 17: 46,532,347 (GRCm39) M461L probably benign Het
Zfp759 T A 13: 67,288,558 (GRCm39) F703Y probably damaging 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
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
R8557:Ablim2 UTSW 5 35,985,483 (GRCm39) missense probably damaging 1.00
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'- GGAATTGTCCCCTCAGAGTAG -3'
(R):5'- GCGACACATGATGACACTCG -3'

Sequencing Primer
(F):5'- GTAGAAGGAAGCTACCCTGTCTC -3'
(R):5'- ATGACACTCGCTTACAGGTG -3'
Posted On 2017-02-28