Incidental Mutation 'IGL02002:Actl11'
ID183098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl11
Ensembl Gene ENSMUSG00000066368
Gene Nameactin-like 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02002
Quality Score
Status
Chromosome9
Chromosomal Location107928469-107932461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107929330 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 284 (V284D)
Ref Sequence ENSEMBL: ENSMUSP00000082150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085073]
Predicted Effect probably benign
Transcript: ENSMUST00000085073
AA Change: V284D

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: V284D

DomainStartEndE-ValueType
low complexity region 223 239 N/A INTRINSIC
low complexity region 301 309 N/A INTRINSIC
low complexity region 374 391 N/A INTRINSIC
low complexity region 492 507 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
ACTIN 858 1207 4.26e-81 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Actl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Actl11 APN 9 107928982 missense possibly damaging 0.49
IGL01396:Actl11 APN 9 107928765 missense possibly damaging 0.71
IGL01622:Actl11 APN 9 107928576 missense probably benign 0.03
IGL01623:Actl11 APN 9 107928576 missense probably benign 0.03
IGL01660:Actl11 APN 9 107929048 missense probably benign
IGL01912:Actl11 APN 9 107929645 missense probably damaging 0.98
IGL02266:Actl11 APN 9 107931183 missense possibly damaging 0.76
IGL02535:Actl11 APN 9 107929937 missense possibly damaging 0.71
IGL02692:Actl11 APN 9 107929308 missense probably benign 0.06
IGL02744:Actl11 APN 9 107929862 missense probably benign 0.04
IGL02864:Actl11 APN 9 107928987 missense probably benign 0.25
IGL03037:Actl11 APN 9 107930095 missense probably damaging 0.99
IGL03085:Actl11 APN 9 107929550 missense probably damaging 0.98
R0167:Actl11 UTSW 9 107929770 missense probably damaging 1.00
R0304:Actl11 UTSW 9 107929768 missense probably damaging 1.00
R0959:Actl11 UTSW 9 107931235 missense probably damaging 1.00
R1499:Actl11 UTSW 9 107931483 missense probably damaging 1.00
R1616:Actl11 UTSW 9 107931936 missense probably benign 0.39
R1694:Actl11 UTSW 9 107930008 missense probably damaging 1.00
R1927:Actl11 UTSW 9 107929537 missense possibly damaging 0.88
R2081:Actl11 UTSW 9 107930197 missense probably benign
R2939:Actl11 UTSW 9 107931210 missense possibly damaging 0.84
R3427:Actl11 UTSW 9 107929770 missense probably damaging 1.00
R4812:Actl11 UTSW 9 107931130 missense probably damaging 0.99
R4843:Actl11 UTSW 9 107929492 missense possibly damaging 0.61
R4972:Actl11 UTSW 9 107929956 missense probably benign 0.07
R4989:Actl11 UTSW 9 107931416 missense probably damaging 1.00
R4996:Actl11 UTSW 9 107931735 missense possibly damaging 0.77
R5320:Actl11 UTSW 9 107931004 missense possibly damaging 0.73
R5546:Actl11 UTSW 9 107929633 missense probably benign 0.00
R5810:Actl11 UTSW 9 107929221 missense probably benign 0.23
R6302:Actl11 UTSW 9 107929573 missense probably benign 0.12
R6412:Actl11 UTSW 9 107929917 missense probably benign 0.01
R6835:Actl11 UTSW 9 107930562 missense probably benign
R6891:Actl11 UTSW 9 107929147 missense probably benign 0.03
R7195:Actl11 UTSW 9 107928870 nonsense probably null
R7212:Actl11 UTSW 9 107928657 missense probably damaging 0.99
R8478:Actl11 UTSW 9 107928645 missense possibly damaging 0.81
R8670:Actl11 UTSW 9 107928760 missense possibly damaging 0.76
R8683:Actl11 UTSW 9 107928866 missense probably benign 0.15
X0024:Actl11 UTSW 9 107930505 missense probably benign 0.01
Z1176:Actl11 UTSW 9 107931700 missense probably benign 0.20
Posted On2014-05-07