Incidental Mutation 'IGL03015:Actr8'
ID407905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr8
Ensembl Gene ENSMUSG00000015971
Gene NameARP8 actin-related protein 8
Synonyms5730542K05Rik, ARP8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03015
Quality Score
Status
Chromosome14
Chromosomal Location29978337-30006354 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 29986316 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Glycine at position 184 (W184G)
Ref Sequence ENSEMBL: ENSMUSP00000153076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000224797] [ENSMUST00000225811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016115
AA Change: W184G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: W184G

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
ACTIN 46 621 3.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224067
Predicted Effect possibly damaging
Transcript: ENSMUST00000224797
AA Change: W184G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225793
Predicted Effect silent
Transcript: ENSMUST00000225811
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,398,515 V160A possibly damaging Het
Cct8 C A 16: 87,486,665 probably benign Het
Daw1 T A 1: 83,183,382 probably benign Het
Itpr2 T C 6: 146,375,937 I325V probably benign Het
Lipk A G 19: 34,018,708 T7A probably benign Het
Ly75 A G 2: 60,376,160 V55A probably damaging Het
Malrd1 A C 2: 16,042,271 D1736A unknown Het
Nav3 T A 10: 109,718,297 I1735F probably damaging Het
Nmbr T A 10: 14,760,668 V127E probably damaging Het
Notch2 A G 3: 98,072,649 T160A possibly damaging Het
Prrt4 T C 6: 29,169,997 M819V probably benign Het
Psmd1 T C 1: 86,128,192 S759P probably damaging Het
Rnf13 A G 3: 57,833,744 E318G possibly damaging Het
Selenon T C 4: 134,545,518 N203S probably benign Het
Syt13 A G 2: 92,951,380 I309V possibly damaging Het
Ush2a C T 1: 188,436,950 T1096I probably benign Het
Vwf T G 6: 125,684,138 probably benign Het
Other mutations in Actr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Actr8 APN 14 29988335 missense probably damaging 1.00
IGL01449:Actr8 APN 14 29990970 critical splice donor site probably null
IGL01577:Actr8 APN 14 29987275 missense probably benign
IGL02118:Actr8 APN 14 29982771 critical splice donor site probably null
IGL02647:Actr8 APN 14 29990890 missense probably damaging 1.00
IGL02659:Actr8 APN 14 29986341 missense probably damaging 1.00
IGL02696:Actr8 APN 14 29982671 missense probably benign 0.33
IGL03335:Actr8 APN 14 29978557 missense probably benign
R0512:Actr8 UTSW 14 29978556 missense probably benign 0.00
R0735:Actr8 UTSW 14 29989712 missense probably benign 0.02
R0926:Actr8 UTSW 14 29987224 missense probably benign 0.02
R1443:Actr8 UTSW 14 29984099 missense possibly damaging 0.73
R1470:Actr8 UTSW 14 29986969 missense possibly damaging 0.90
R1470:Actr8 UTSW 14 29986969 missense possibly damaging 0.90
R1616:Actr8 UTSW 14 29982644 missense possibly damaging 0.53
R2097:Actr8 UTSW 14 29987228 missense probably damaging 0.98
R2240:Actr8 UTSW 14 29989757 missense possibly damaging 0.94
R2570:Actr8 UTSW 14 29987282 missense probably damaging 1.00
R5122:Actr8 UTSW 14 29982715 missense possibly damaging 0.95
R5439:Actr8 UTSW 14 29986995 missense probably damaging 1.00
R5697:Actr8 UTSW 14 29991673 missense possibly damaging 0.73
R5727:Actr8 UTSW 14 29990881 missense probably benign 0.01
R5860:Actr8 UTSW 14 29986285 nonsense probably null
R5988:Actr8 UTSW 14 29993073 missense possibly damaging 0.71
R6006:Actr8 UTSW 14 29984142 critical splice donor site probably null
R6009:Actr8 UTSW 14 29978497 unclassified probably benign
R6155:Actr8 UTSW 14 29978589 critical splice donor site probably null
R6190:Actr8 UTSW 14 29991717 nonsense probably null
R6329:Actr8 UTSW 14 29993084 nonsense probably null
R6483:Actr8 UTSW 14 29978581 missense possibly damaging 0.53
R6517:Actr8 UTSW 14 29982716 nonsense probably null
R6562:Actr8 UTSW 14 29986454 splice site probably null
R7484:Actr8 UTSW 14 29992968 missense probably damaging 1.00
Z1177:Actr8 UTSW 14 29986401 missense probably damaging 1.00
Z1177:Actr8 UTSW 14 29987242 missense probably damaging 0.99
Posted On2016-08-02