Incidental Mutation 'IGL02647:Actr8'
ID301978
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 #IGL02647
Quality Score
Status
Chromosome14
Chromosomal Location29978337-30006354 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29990890 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 497 (R497W)
Ref Sequence ENSEMBL: ENSMUSP00000153076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000224797] [ENSMUST00000225811]
Predicted Effect probably damaging
Transcript: ENSMUST00000016115
AA Change: R497W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: R497W

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 probably damaging
Transcript: ENSMUST00000224797
AA Change: R497W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225368
Predicted Effect probably benign
Transcript: ENSMUST00000225811
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T C 8: 13,836,979 T371A probably damaging Het
Als2cr12 T C 1: 58,670,454 T181A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bmx T C X: 164,205,235 E495G probably damaging Het
Cbx5 T C 15: 103,200,903 probably null Het
Cenpj C T 14: 56,530,079 V1203M probably damaging Het
Ces1b T C 8: 93,057,044 H516R probably benign Het
D430041D05Rik T C 2: 104,248,266 N1235S probably damaging Het
Depdc1a A T 3: 159,522,866 K418N probably damaging Het
Dysf G A 6: 84,137,373 V1215M probably damaging Het
Foxf2 A T 13: 31,627,235 N386Y probably damaging Het
Frem1 A T 4: 83,001,754 V455E probably damaging Het
Fzd7 C A 1: 59,484,395 P479Q probably damaging Het
Hnmt G A 2: 24,014,307 S114F possibly damaging Het
Irf3 A G 7: 45,000,376 N6S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrba A G 3: 86,359,731 D1576G probably benign Het
Lsg1 A T 16: 30,585,552 probably null Het
Mal2 T C 15: 54,588,437 F85L probably damaging Het
Me2 A C 18: 73,797,903 S106R probably benign Het
Med21 T C 6: 146,649,233 S81P probably benign Het
Mos T C 4: 3,870,961 Y285C probably damaging Het
Mtmr1 A G X: 71,393,333 N256S probably damaging Het
Olfr868 T A 9: 20,101,209 M150K probably benign Het
Prl3d2 A C 13: 27,126,016 T155P probably benign Het
R3hdm2 C T 10: 127,459,484 S240L probably damaging Het
Skint6 A T 4: 113,127,891 probably benign Het
Ubr5 A G 15: 37,992,082 S1933P probably damaging Het
Veph1 A T 3: 66,159,448 probably benign Het
Xpo7 A G 14: 70,685,465 F557S probably damaging Het
Zfp647 T C 15: 76,917,715 E30G probably damaging Het
Zfp655 A T 5: 145,243,006 I75L probably benign Het
Zfp981 C A 4: 146,537,252 Y211* probably null 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
IGL02659:Actr8 APN 14 29986341 missense probably damaging 1.00
IGL02696:Actr8 APN 14 29982671 missense probably benign 0.33
IGL03015:Actr8 APN 14 29986316 missense possibly damaging 0.81
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 On2015-04-16