Incidental Mutation 'R5439:Ablim2'
ID 501052
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 043004-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5439 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35915224-36042317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36015170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 461 (K461E)
Ref Sequence ENSEMBL: ENSMUSP00000109843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114203] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347]
AlphaFold Q8BL65
Predicted Effect probably damaging
Transcript: ENSMUST00000054598
AA Change: K461E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: K461E

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: K495E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: K495E

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 possibly damaging
Transcript: ENSMUST00000114203
AA Change: K195E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
AA Change: K195E

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 benign
Transcript: ENSMUST00000114204
AA Change: K494E

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: K494E

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: K461E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: K461E

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 benign
Transcript: ENSMUST00000114206
AA Change: K505E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: K505E

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 benign
Transcript: ENSMUST00000114210
AA Change: K494E

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: K494E

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 noncoding transcript
Transcript: ENSMUST00000130209
Predicted Effect possibly damaging
Transcript: ENSMUST00000125378
AA Change: K119E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115931
Gene: ENSMUSG00000029095
AA Change: K119E

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 1 115 6.3e-29 PFAM
low complexity region 136 148 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129347
AA Change: K513E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: K513E

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 possibly damaging
Transcript: ENSMUST00000151322
AA Change: K184E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114616
Gene: ENSMUSG00000029095
AA Change: K184E

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 12 164 4.3e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151636
AA Change: K154E

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095
AA Change: K154E

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 22 148 5.6e-54 PFAM
low complexity region 171 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153025
Predicted Effect probably benign
Transcript: ENSMUST00000153529
SMART Domains Protein: ENSMUSP00000118019
Gene: ENSMUSG00000029095

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 43 73 1.7e-17 PFAM
VHP 74 109 2.34e-19 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,683 (GRCm39) I156N probably damaging Het
Abca1 C A 4: 53,042,381 (GRCm39) R1897L possibly damaging Het
Acss3 A T 10: 106,773,008 (GRCm39) Y659* probably null Het
Actr8 T G 14: 29,708,952 (GRCm39) L253R probably damaging Het
Arid4b A G 13: 14,362,281 (GRCm39) K915R probably damaging Het
C3 T C 17: 57,511,502 (GRCm39) E1560G probably benign Het
Cacna1c A T 6: 118,631,333 (GRCm39) I1013N probably damaging Het
Cep83 G A 10: 94,625,600 (GRCm39) R670H probably benign Het
Col19a1 T A 1: 24,332,193 (GRCm39) D870V probably damaging Het
Ddr2 A G 1: 169,832,298 (GRCm39) V164A possibly damaging Het
Dnaaf10 A G 11: 17,162,031 (GRCm39) D23G possibly damaging Het
Donson A T 16: 91,476,814 (GRCm39) V549E probably damaging Het
Egflam C T 15: 7,254,144 (GRCm39) G824R probably damaging Het
Extl3 A G 14: 65,292,075 (GRCm39) F916S probably damaging Het
Fam110c A G 12: 31,124,406 (GRCm39) M123V unknown Het
G3bp1 A T 11: 55,388,813 (GRCm39) I342F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hspb1 A T 5: 135,918,186 (GRCm39) T178S probably benign Het
Iigp1 A G 18: 60,523,329 (GRCm39) Y149C probably damaging Het
Il22 G T 10: 118,045,366 (GRCm39) G159* probably null Het
Jcad T C 18: 4,675,790 (GRCm39) F1184S probably damaging Het
Kcnj2 G T 11: 110,963,057 (GRCm39) V150L probably damaging Het
Kifc1 C T 17: 34,105,639 (GRCm39) R56Q probably damaging Het
Lce1h A G 3: 92,671,027 (GRCm39) S42P unknown Het
Lrp4 C A 2: 91,327,418 (GRCm39) D1471E probably benign Het
Lrrc3 C A 10: 77,737,299 (GRCm39) V46L probably benign Het
Mcf2l G A 8: 12,976,646 (GRCm39) A2T possibly damaging Het
Med12l G A 3: 59,170,634 (GRCm39) C1673Y probably null Het
Nckap1 T C 2: 80,343,034 (GRCm39) E955G possibly damaging Het
Ndufs3 T A 2: 90,732,690 (GRCm39) probably null Het
Nkx6-1 A G 5: 101,809,698 (GRCm39) probably null Het
Obscn C A 11: 58,890,954 (GRCm39) E1713* probably null Het
Or10ak12 G A 4: 118,666,560 (GRCm39) T167I possibly damaging Het
Or10g1b A G 14: 52,627,582 (GRCm39) F216S probably damaging Het
Or10n1 A G 9: 39,524,916 (GRCm39) T18A probably benign Het
Or2n1 T A 17: 38,486,917 (GRCm39) probably null Het
Or6n1 A G 1: 173,917,541 (GRCm39) R312G probably benign Het
Or7e165 A C 9: 19,695,161 (GRCm39) H244P probably damaging Het
Or8c15 A G 9: 38,121,050 (GRCm39) T234A probably benign Het
Osbpl5 A G 7: 143,295,433 (GRCm39) F10L possibly damaging Het
Plvap A C 8: 71,964,095 (GRCm39) I89S probably damaging Het
Ppp2r2a A G 14: 67,259,772 (GRCm39) V308A possibly damaging Het
Ppp2r5e T C 12: 75,540,250 (GRCm39) S132G probably benign Het
Pum3 G T 19: 27,389,659 (GRCm39) Q398K probably benign Het
Ralgapa2 T C 2: 146,184,430 (GRCm39) T1526A probably benign Het
Sh3tc2 T A 18: 62,122,704 (GRCm39) Y488* probably null Het
Spmip7 A T 11: 11,440,244 (GRCm39) R8S possibly damaging Het
Sqle A G 15: 59,202,753 (GRCm39) Y537C probably benign Het
Sult2a8 T G 7: 14,159,439 (GRCm39) K60T probably damaging Het
Tex15 T C 8: 34,064,199 (GRCm39) S1210P possibly damaging Het
Thumpd3 A G 6: 113,043,825 (GRCm39) silent Het
Timeless A G 10: 128,077,604 (GRCm39) D228G probably damaging Het
Trim31 A T 17: 37,216,797 (GRCm39) probably null Het
Ttc39c A T 18: 12,828,428 (GRCm39) D196V possibly damaging Het
Wbp4 C A 14: 79,709,837 (GRCm39) V133L possibly damaging Het
Zfp354c G T 11: 50,706,597 (GRCm39) D159E probably benign Het
Zfp940 C A 7: 29,544,858 (GRCm39) D350Y 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
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 PCR Primer
(F):5'- AGTTGTAAAAGTGCCCCGAGAG -3'
(R):5'- TCCTGTGGGCTTCAGAAGAG -3'

Sequencing Primer
(F):5'- CAGCTGCATCATGAACTTTCAG -3'
(R):5'- TTCAGAAGAGCCACTCACGTGAG -3'
Posted On 2017-12-01