Incidental Mutation 'IGL02002:Actl11'
ID 183098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl11
Ensembl Gene ENSMUSG00000066368
Gene Name actin-like 11
Synonyms 4921517D21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02002
Quality Score
Status
Chromosome 9
Chromosomal Location 107805668-107809660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107806529 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D5V1
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
Abcg5 G T 17: 84,989,479 (GRCm39) Y76* probably null Het
Acadsb T A 7: 131,030,258 (GRCm39) V135E probably damaging Het
Acap1 A G 11: 69,775,286 (GRCm39) Y326H probably damaging Het
Adcy10 G T 1: 165,349,412 (GRCm39) D428Y probably damaging Het
Akap8 A G 17: 32,528,470 (GRCm39) C481R probably damaging Het
Amotl2 G A 9: 102,602,316 (GRCm39) A26T probably damaging Het
Apob T C 12: 8,044,822 (GRCm39) V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 (GRCm39) N148K probably damaging Het
Ccdc149 G A 5: 52,563,421 (GRCm39) T124M probably damaging Het
Cd320 A G 17: 34,062,214 (GRCm39) probably benign Het
Clca4b T C 3: 144,638,194 (GRCm39) T23A probably benign Het
Col22a1 A G 15: 71,682,946 (GRCm39) probably benign Het
Col24a1 T A 3: 145,062,699 (GRCm39) F675I possibly damaging Het
Col6a3 A G 1: 90,709,858 (GRCm39) probably benign Het
Dap3 A T 3: 88,843,535 (GRCm39) M19K probably benign Het
Dsg2 A G 18: 20,712,233 (GRCm39) D123G probably damaging Het
Dysf T A 6: 84,187,769 (GRCm39) probably benign Het
Erbb4 A G 1: 68,119,885 (GRCm39) S853P probably damaging Het
Fbn2 A G 18: 58,247,625 (GRCm39) M423T probably benign Het
Fcgbpl1 A T 7: 27,852,221 (GRCm39) Y1248F probably damaging Het
Fgfr1 T C 8: 26,045,727 (GRCm39) Y112H probably damaging Het
Gbp7 G A 3: 142,244,661 (GRCm39) A203T probably damaging Het
Gon4l C T 3: 88,802,643 (GRCm39) P1085S possibly damaging Het
Gsdma2 T C 11: 98,541,800 (GRCm39) F176L probably damaging Het
Haghl A G 17: 26,003,239 (GRCm39) F131S probably damaging Het
Hmcn1 G A 1: 150,491,049 (GRCm39) P4167S probably damaging Het
Hscb T C 5: 110,978,820 (GRCm39) N199D probably benign Het
Lmbr1l T A 15: 98,802,666 (GRCm39) N428Y probably damaging Het
Mc2r T A 18: 68,540,505 (GRCm39) M263L probably benign Het
Metap1 T A 3: 138,168,150 (GRCm39) T325S probably damaging Het
Mff A G 1: 82,719,696 (GRCm39) R225G probably damaging Het
Naprt A T 15: 75,763,221 (GRCm39) L474Q probably damaging Het
Nin A T 12: 70,109,473 (GRCm39) Y155* probably null Het
Nrg3 A T 14: 38,092,724 (GRCm39) C612* probably null Het
Or2aj5 T C 16: 19,425,300 (GRCm39) I39M possibly damaging Het
Or5p52 A T 7: 107,502,497 (GRCm39) D191V possibly damaging Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Pdilt A T 7: 119,099,667 (GRCm39) F200L probably damaging Het
Ppard T G 17: 28,517,877 (GRCm39) F315C probably damaging Het
Ror1 T A 4: 100,298,381 (GRCm39) S585T probably damaging Het
Spdye4a T A 5: 143,211,460 (GRCm39) I35F possibly damaging Het
Tenm2 T C 11: 36,097,922 (GRCm39) K442R probably benign Het
Tln2 A G 9: 67,263,980 (GRCm39) I553T probably damaging Het
Tmem269 T A 4: 119,071,338 (GRCm39) I26F probably benign Het
Tsen2 T C 6: 115,536,568 (GRCm39) V108A probably benign Het
Ttyh3 A T 5: 140,615,238 (GRCm39) D383E probably damaging Het
Tut7 A G 13: 59,929,910 (GRCm39) S1042P possibly damaging Het
Usp13 T C 3: 32,901,974 (GRCm39) S102P probably damaging Het
Vmn2r118 T G 17: 55,899,619 (GRCm39) S762R probably damaging Het
Washc4 A G 10: 83,415,407 (GRCm39) N799S possibly damaging Het
Zdhhc17 C T 10: 110,803,550 (GRCm39) V256I probably benign Het
Zfp51 T A 17: 21,684,221 (GRCm39) F279I probably damaging Het
Zzz3 A G 3: 152,157,006 (GRCm39) T223A probably damaging Het
Other mutations in Actl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Actl11 APN 9 107,806,181 (GRCm39) missense possibly damaging 0.49
IGL01396:Actl11 APN 9 107,805,964 (GRCm39) missense possibly damaging 0.71
IGL01622:Actl11 APN 9 107,805,775 (GRCm39) missense probably benign 0.03
IGL01623:Actl11 APN 9 107,805,775 (GRCm39) missense probably benign 0.03
IGL01660:Actl11 APN 9 107,806,247 (GRCm39) missense probably benign
IGL01912:Actl11 APN 9 107,806,844 (GRCm39) missense probably damaging 0.98
IGL02266:Actl11 APN 9 107,808,382 (GRCm39) missense possibly damaging 0.76
IGL02535:Actl11 APN 9 107,807,136 (GRCm39) missense possibly damaging 0.71
IGL02692:Actl11 APN 9 107,806,507 (GRCm39) missense probably benign 0.06
IGL02744:Actl11 APN 9 107,807,061 (GRCm39) missense probably benign 0.04
IGL02864:Actl11 APN 9 107,806,186 (GRCm39) missense probably benign 0.25
IGL03037:Actl11 APN 9 107,807,294 (GRCm39) missense probably damaging 0.99
IGL03085:Actl11 APN 9 107,806,749 (GRCm39) missense probably damaging 0.98
R0167:Actl11 UTSW 9 107,806,969 (GRCm39) missense probably damaging 1.00
R0304:Actl11 UTSW 9 107,806,967 (GRCm39) missense probably damaging 1.00
R0959:Actl11 UTSW 9 107,808,434 (GRCm39) missense probably damaging 1.00
R1499:Actl11 UTSW 9 107,808,682 (GRCm39) missense probably damaging 1.00
R1616:Actl11 UTSW 9 107,809,135 (GRCm39) missense probably benign 0.39
R1694:Actl11 UTSW 9 107,807,207 (GRCm39) missense probably damaging 1.00
R1927:Actl11 UTSW 9 107,806,736 (GRCm39) missense possibly damaging 0.88
R2081:Actl11 UTSW 9 107,807,396 (GRCm39) missense probably benign
R2939:Actl11 UTSW 9 107,808,409 (GRCm39) missense possibly damaging 0.84
R3427:Actl11 UTSW 9 107,806,969 (GRCm39) missense probably damaging 1.00
R4812:Actl11 UTSW 9 107,808,329 (GRCm39) missense probably damaging 0.99
R4843:Actl11 UTSW 9 107,806,691 (GRCm39) missense possibly damaging 0.61
R4972:Actl11 UTSW 9 107,807,155 (GRCm39) missense probably benign 0.07
R4989:Actl11 UTSW 9 107,808,615 (GRCm39) missense probably damaging 1.00
R4996:Actl11 UTSW 9 107,808,934 (GRCm39) missense possibly damaging 0.77
R5320:Actl11 UTSW 9 107,808,203 (GRCm39) missense possibly damaging 0.73
R5546:Actl11 UTSW 9 107,806,832 (GRCm39) missense probably benign 0.00
R5810:Actl11 UTSW 9 107,806,420 (GRCm39) missense probably benign 0.23
R6302:Actl11 UTSW 9 107,806,772 (GRCm39) missense probably benign 0.12
R6412:Actl11 UTSW 9 107,807,116 (GRCm39) missense probably benign 0.01
R6835:Actl11 UTSW 9 107,807,761 (GRCm39) missense probably benign
R6891:Actl11 UTSW 9 107,806,346 (GRCm39) missense probably benign 0.03
R7195:Actl11 UTSW 9 107,806,069 (GRCm39) nonsense probably null
R7212:Actl11 UTSW 9 107,805,856 (GRCm39) missense probably damaging 0.99
R8478:Actl11 UTSW 9 107,805,844 (GRCm39) missense possibly damaging 0.81
R8670:Actl11 UTSW 9 107,805,959 (GRCm39) missense possibly damaging 0.76
R8683:Actl11 UTSW 9 107,806,065 (GRCm39) missense probably benign 0.15
R9114:Actl11 UTSW 9 107,808,509 (GRCm39) missense possibly damaging 0.62
R9233:Actl11 UTSW 9 107,807,900 (GRCm39) missense possibly damaging 0.91
R9280:Actl11 UTSW 9 107,808,573 (GRCm39) missense probably damaging 1.00
R9361:Actl11 UTSW 9 107,805,824 (GRCm39) missense probably damaging 1.00
R9565:Actl11 UTSW 9 107,808,121 (GRCm39) missense possibly damaging 0.92
X0024:Actl11 UTSW 9 107,807,704 (GRCm39) missense probably benign 0.01
Z1176:Actl11 UTSW 9 107,808,899 (GRCm39) missense probably benign 0.20
Posted On 2014-05-07