Incidental Mutation 'R7562:Ablim2'
ID 585181
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 045627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R7562 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 35915224-36042317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36030563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 544 (T544M)
Ref Sequence ENSEMBL: ENSMUSP00000050571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054598] [ENSMUST00000101280] [ENSMUST00000114203] [ENSMUST00000114204] [ENSMUST00000114205] [ENSMUST00000114206] [ENSMUST00000114210] [ENSMUST00000129347]
AlphaFold Q8BL65
Predicted Effect probably benign
Transcript: ENSMUST00000054598
AA Change: T544M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: T544M

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 benign
Transcript: ENSMUST00000101280
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095

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
AA Change: T278M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
AA Change: T278M

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
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095

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 benign
Transcript: ENSMUST00000114205
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095

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
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095

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 silent
Transcript: ENSMUST00000114210
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095

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 benign
Transcript: ENSMUST00000129347
AA Change: T596M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: T596M

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: ENSMUST00000151636
SMART Domains Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 22 148 5.6e-54 PFAM
low complexity region 171 183 N/A INTRINSIC
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,270,697 (GRCm39) R651G probably benign Het
Adck1 G A 12: 88,335,203 (GRCm39) D30N possibly damaging Het
Alcam T A 16: 52,089,186 (GRCm39) I505F probably benign Het
Alms1 T C 6: 85,597,394 (GRCm39) L740P probably damaging Het
Ankib1 C T 5: 3,797,021 (GRCm39) D264N probably null Het
Arid2 T G 15: 96,299,849 (GRCm39) H1787Q probably damaging Het
Asf1a C T 10: 53,482,283 (GRCm39) R102* probably null Het
Atp2b1 C A 10: 98,858,667 (GRCm39) probably null Het
Bdp1 T C 13: 100,162,049 (GRCm39) D2291G probably benign Het
Bnip5 T C 17: 29,128,778 (GRCm39) D45G probably benign Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Catsperg2 A G 7: 29,397,144 (GRCm39) F1120L probably benign Het
Ccdc80 C T 16: 44,943,266 (GRCm39) A792V probably damaging Het
Cdcp3 T A 7: 130,904,426 (GRCm39) D2381E unknown Het
Cenpe C T 3: 134,954,395 (GRCm39) R1751W probably damaging Het
Cenpm T C 15: 82,125,562 (GRCm39) I66V probably benign Het
Clcn4 A G 7: 7,298,081 (GRCm39) W103R possibly damaging Het
Cntn2 T C 1: 132,454,055 (GRCm39) D317G possibly damaging Het
Cwf19l1 G A 19: 44,117,680 (GRCm39) T154M probably damaging Het
Cyp2a4 T A 7: 26,012,321 (GRCm39) M368K possibly damaging Het
Dars1 A G 1: 128,294,763 (GRCm39) S413P possibly damaging Het
Dscc1 A G 15: 54,947,581 (GRCm39) Y200H probably benign Het
Dsn1 A T 2: 156,842,792 (GRCm39) D183E probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fancc A T 13: 63,550,867 (GRCm39) probably null Het
Fbxo34 T A 14: 47,767,135 (GRCm39) M216K probably benign Het
Fer1l6 T G 15: 58,432,331 (GRCm39) S293A probably benign Het
Foxn1 T A 11: 78,261,958 (GRCm39) E137V probably damaging Het
Fshr A C 17: 89,295,925 (GRCm39) F261V probably damaging Het
Gabrb3 C T 7: 57,461,926 (GRCm39) R153* probably null Het
Garin1b T C 6: 29,323,833 (GRCm39) V186A probably damaging Het
Gps2 C A 11: 69,807,308 (GRCm39) N321K probably benign Het
Hdgf T C 3: 87,813,993 (GRCm39) M20T possibly damaging Het
Igdcc4 G T 9: 65,031,306 (GRCm39) A415S probably damaging Het
Kif26b A G 1: 178,742,541 (GRCm39) E879G probably damaging Het
Krt13 T C 11: 100,010,162 (GRCm39) Y273C probably damaging Het
Mab21l4 C A 1: 93,087,689 (GRCm39) V55F probably damaging Het
Mag A G 7: 30,608,559 (GRCm39) V185A possibly damaging Het
Map3k21 C T 8: 126,665,539 (GRCm39) T576M probably damaging Het
Mtcl2 A C 2: 156,895,509 (GRCm39) L332R probably damaging Het
Mtrr A G 13: 68,714,336 (GRCm39) F468L probably damaging Het
Myb C T 10: 21,017,653 (GRCm39) probably null Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5l A T 15: 99,321,166 (GRCm39) probably null Het
Nop9 C T 14: 55,986,809 (GRCm39) R240W probably benign Het
Notch2 T C 3: 98,020,430 (GRCm39) L775P probably damaging Het
Or13a27 T C 7: 139,925,143 (GRCm39) Y253C probably damaging Het
Or4c116 C T 2: 88,942,629 (GRCm39) V76I probably benign Het
Or55b10 T A 7: 102,143,227 (GRCm39) I252F possibly damaging Het
Or7a40 T C 16: 16,491,579 (GRCm39) N89D probably benign Het
Or8c9 A G 9: 38,241,239 (GRCm39) T116A probably damaging Het
Oxa1l T A 14: 54,600,934 (GRCm39) W136R probably damaging Het
Palm3 T A 8: 84,748,136 (GRCm39) V7E possibly damaging Het
Pkhd1l1 C G 15: 44,378,326 (GRCm39) R1027G possibly damaging Het
Prickle2 A T 6: 92,352,929 (GRCm39) *902K probably null Het
Rassf7 C T 7: 140,797,101 (GRCm39) R105* probably null Het
Septin9 T C 11: 117,217,337 (GRCm39) probably null Het
Sorbs3 T C 14: 70,444,976 (GRCm39) N34S probably benign Het
Sos2 T C 12: 69,682,412 (GRCm39) T269A probably benign Het
Spata20 T G 11: 94,373,379 (GRCm39) K497N probably benign Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Tenm4 A G 7: 96,538,021 (GRCm39) T1865A probably damaging Het
Tmc5 A T 7: 118,222,549 (GRCm39) Y83F probably benign Het
Tmem175 T A 5: 108,789,715 (GRCm39) D103E probably damaging Het
Top2b A C 14: 16,412,946 (GRCm38) M952L probably benign Het
Vmn2r6 T C 3: 64,463,941 (GRCm39) I298V probably benign Het
Vmn2r69 T C 7: 85,056,420 (GRCm39) I573V probably benign Het
Vmn2r93 A G 17: 18,518,731 (GRCm39) I63M probably benign Het
Zfp568 G A 7: 29,722,681 (GRCm39) R542H 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
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'- GCAGGTTCCCGGATATTCAC -3'
(R):5'- GTACTCCAAGAGATGCACAGC -3'

Sequencing Primer
(F):5'- CCAATGTTCAACGTTAGGTGAC -3'
(R):5'- CCCCTGCAGCATAGGATG -3'
Posted On 2019-10-17