Incidental Mutation 'R7960:Ablim2'
ID 650043
Institutional Source Beutler Lab
Gene Symbol Ablim2
Ensembl Gene ENSMUSG00000029095
Gene Name actin-binding LIM protein 2
Synonyms
MMRRC Submission 046004-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R7960 (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 C at 36014493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 450 (E450A)
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: E450A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: E450A

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
AA Change: E484A

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: E484A

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: E184A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
AA Change: E184A

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: E483A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: E483A

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
AA Change: E450A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: E450A

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: E494A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: E494A

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: E483A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: E483A

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
SMART Domains Protein: ENSMUSP00000115931
Gene: ENSMUSG00000029095
AA Change: E108A

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 1 115 6.3e-29 PFAM
low complexity region 136 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129347
AA Change: E502A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: E502A

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
SMART Domains Protein: ENSMUSP00000114616
Gene: ENSMUSG00000029095
AA Change: E173A

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 12 164 4.3e-55 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095
AA Change: E143A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,702,481 (GRCm39) S82P possibly damaging Het
Acacb G T 5: 114,368,922 (GRCm39) M1713I probably benign Het
Acbd6 C A 1: 155,562,766 (GRCm39) Q256K probably benign Het
Agbl2 A T 2: 90,621,975 (GRCm39) N154I probably benign Het
Ahcyl2 A G 6: 29,870,626 (GRCm39) N181D probably benign Het
Aldh18a1 A T 19: 40,546,264 (GRCm39) D544E probably benign Het
Anapc1 A T 2: 128,516,513 (GRCm39) L407Q probably damaging Het
Arhgap26 T A 18: 39,362,980 (GRCm39) V34D Het
Brd3 A T 2: 27,342,945 (GRCm39) S516T probably benign Het
Bsn A G 9: 107,992,747 (GRCm39) S1002P probably damaging Het
C4b G T 17: 34,960,252 (GRCm39) probably null Het
Camta1 T C 4: 151,232,990 (GRCm39) T228A probably benign Het
Cct6b T C 11: 82,632,221 (GRCm39) K256E possibly damaging Het
Cep85l T A 10: 53,172,403 (GRCm39) Q552L probably benign Het
Col6a5 A G 9: 105,823,049 (GRCm39) F103L unknown Het
Copb2 A G 9: 98,462,407 (GRCm39) Q464R possibly damaging Het
Dlc1 G T 8: 37,404,989 (GRCm39) H267N probably benign Het
Dnajb2 T C 1: 75,218,055 (GRCm39) I184T Het
Dnajc9 C T 14: 20,438,764 (GRCm39) E30K possibly damaging Het
Dock1 T C 7: 134,678,917 (GRCm39) L1012P possibly damaging Het
Dtnbp1 T C 13: 45,106,650 (GRCm39) K170R probably benign Het
F13b T A 1: 139,431,509 (GRCm39) C26* probably null Het
Ficd G T 5: 113,877,020 (GRCm39) E398D probably benign Het
G6pc1 G A 11: 101,267,359 (GRCm39) G270R probably damaging Het
Garin4 T A 1: 190,895,645 (GRCm39) T333S probably benign Het
Gm3604 T C 13: 62,517,587 (GRCm39) Y257C probably damaging Het
Hmcn1 T A 1: 150,531,606 (GRCm39) Y3221F probably damaging Het
Hs3st3b1 C T 11: 63,812,694 (GRCm39) G7D possibly damaging Het
Htr3b A T 9: 48,856,852 (GRCm39) S209T probably benign Het
Ift70a1 A T 2: 75,811,188 (GRCm39) D298E probably benign Het
Iglon5 T A 7: 43,126,326 (GRCm39) E192D probably benign Het
Inpp5f A G 7: 128,295,638 (GRCm39) probably null Het
Kif26b T A 1: 178,506,484 (GRCm39) C187S probably damaging Het
Klhl11 A G 11: 100,354,805 (GRCm39) S339P probably benign Het
Klk14 G A 7: 43,341,467 (GRCm39) A40T probably damaging Het
Kmt2c G A 5: 25,520,194 (GRCm39) T1972I probably benign Het
Lama2 T C 10: 26,869,094 (GRCm39) T2784A probably benign Het
Loxhd1 T A 18: 77,472,746 (GRCm39) F1088I probably damaging Het
Map2k2 G A 10: 80,954,968 (GRCm39) R185Q probably benign Het
Mbd5 G A 2: 49,169,796 (GRCm39) probably null Het
Mdc1 A T 17: 36,161,570 (GRCm39) R828* probably null Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Or5g25 A G 2: 85,478,417 (GRCm39) S83P possibly damaging Het
Parp4 C A 14: 56,832,708 (GRCm39) probably null Het
Pbk T A 14: 66,046,650 (GRCm39) probably null Het
Phip A T 9: 82,775,401 (GRCm39) D1060E probably benign Het
Pik3c2b T A 1: 133,031,587 (GRCm39) L1509Q probably damaging Het
Pik3r5 T A 11: 68,386,796 (GRCm39) F808L probably benign Het
Plcl1 T A 1: 55,736,443 (GRCm39) S595T possibly damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pole A G 5: 110,437,727 (GRCm39) K95R possibly damaging Het
Poteg A G 8: 27,946,888 (GRCm39) T259A probably benign Het
Pramel52-ps A G 5: 94,531,739 (GRCm39) M208V probably benign Het
Ptpn12 G T 5: 21,260,687 (GRCm39) P20Q probably benign Het
Ptpn5 T A 7: 46,729,295 (GRCm39) T440S possibly damaging Het
Ptpru T C 4: 131,515,820 (GRCm39) R845G probably benign Het
Rasgrp2 G T 19: 6,464,839 (GRCm39) V596L probably benign Het
Rcbtb2 T G 14: 73,399,384 (GRCm39) V16G probably benign Het
Rel T C 11: 23,694,493 (GRCm39) N289S probably damaging Het
Rpn1 T A 6: 88,079,068 (GRCm39) Y504N probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scaf8 G A 17: 3,221,397 (GRCm39) V295M unknown Het
Skic3 T C 13: 76,260,318 (GRCm39) C87R probably benign Het
Slc25a48 T A 13: 56,611,411 (GRCm39) Y173N probably damaging Het
Slc8a3 C T 12: 81,263,506 (GRCm39) S627N probably benign Het
Snx8 T A 5: 140,343,848 (GRCm39) M123L probably benign Het
Sri A T 5: 8,114,586 (GRCm39) Q180H probably benign Het
Sycp2 T A 2: 178,046,453 (GRCm39) R4S probably null Het
Tcstv1a G A 13: 120,355,521 (GRCm39) T37I possibly damaging Het
Tnnc2 A T 2: 164,619,704 (GRCm39) D87E probably benign Het
Trim7 A T 11: 48,728,628 (GRCm39) N92I probably damaging Het
Trpv6 C T 6: 41,604,612 (GRCm39) D97N probably benign Het
Ulk4 A G 9: 121,102,022 (GRCm39) Y19H probably damaging Het
Vmn2r69 C T 7: 85,055,973 (GRCm39) V722I probably benign Het
Zan T C 5: 137,407,865 (GRCm39) D3643G unknown Het
Zan G A 5: 137,463,154 (GRCm39) T675I unknown 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
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'- AGTGTGTCATTCCTCCAGC -3'
(R):5'- GTATCTCCTCAGTCCCAGAACC -3'

Sequencing Primer
(F):5'- ATTCCTCCAGCCTGTGAAAG -3'
(R):5'- GCAGAGCATGTGCCCATACAG -3'
Posted On 2020-09-15