Incidental Mutation 'IGL01912:Actl11'
ID179832
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: 0.078) question?
Stock #IGL01912
Quality Score
Status
Chromosome9
Chromosomal Location107928469-107932461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107929645 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 389 (P389Q)
Ref Sequence ENSEMBL: ENSMUSP00000082150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085073]
Predicted Effect probably damaging
Transcript: ENSMUST00000085073
AA Change: P389Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: P389Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Bsg G T 10: 79,710,140 G103W probably null Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dctd C T 8: 48,111,662 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Esyt2 T C 12: 116,339,609 I289T probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Rab3ip G T 10: 116,907,092 Q443K probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Vmn1r54 T C 6: 90,269,460 S119P 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
IGL02002:Actl11 APN 9 107929330 missense probably benign 0.08
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