Incidental Mutation 'R1148:Ablim2'
ID 102516
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 039221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1148 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35915224-36042317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35966605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 178 (F178S)
Ref Sequence ENSEMBL: ENSMUSP00000123525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347]
AlphaFold Q8BL65
Predicted Effect probably damaging
Transcript: ENSMUST00000054598
AA Change: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: F178S

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: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: F178S

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: ENSMUST00000114204
AA Change: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: F178S

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: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: F178S

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: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: F178S

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: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: F178S

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: F178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: F178S

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
Meta Mutation Damage Score 0.9150 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.8%
  • 10x: 90.3%
  • 20x: 69.2%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Alg10b T C 15: 90,112,068 (GRCm39) F304S possibly damaging Het
Ank3 C T 10: 69,718,369 (GRCm39) S540F probably damaging Het
Arhgef16 T C 4: 154,365,346 (GRCm39) N590D probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Cilp T A 9: 65,187,598 (GRCm39) L1231Q possibly damaging Het
Cyp4x1 A G 4: 114,983,752 (GRCm39) probably benign Het
Disp2 G A 2: 118,636,899 (GRCm39) probably null Het
Dnah5 T C 15: 28,421,836 (GRCm39) L3896P probably damaging Het
Dpp8 T C 9: 64,961,114 (GRCm39) probably null Het
Esp4 A C 17: 40,913,262 (GRCm39) N43T probably benign Het
Fat3 T C 9: 15,908,070 (GRCm39) D2644G probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Lonp2 A G 8: 87,363,168 (GRCm39) E262G probably benign Het
Ly6h G T 15: 75,437,021 (GRCm39) S118R unknown Het
Mapk12 T C 15: 89,018,826 (GRCm39) Y203C probably damaging Het
Mapk15 A G 15: 75,870,004 (GRCm39) T375A probably benign Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or5g9 C A 2: 85,552,620 (GRCm39) Y290* probably null Het
Osbpl11 T C 16: 33,047,582 (GRCm39) F515S probably damaging Het
Pcdh15 T C 10: 74,006,392 (GRCm39) V90A probably damaging Het
Ptpn4 T C 1: 119,612,270 (GRCm39) D41G probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Sh3d19 A G 3: 86,014,634 (GRCm39) D475G possibly damaging Het
Shprh T C 10: 11,089,226 (GRCm39) S1655P possibly damaging Het
Slc25a12 G A 2: 71,142,912 (GRCm39) probably benign Het
Strc A G 2: 121,202,558 (GRCm39) probably benign Het
Ttc22 G A 4: 106,480,228 (GRCm39) V161M probably damaging Het
Unc79 T C 12: 103,078,926 (GRCm39) L1504P probably damaging Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S 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
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
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
Posted On 2014-01-15