Incidental Mutation 'R5122:Actr8'
ID 393364
Institutional Source Beutler Lab
Gene Symbol Actr8
Ensembl Gene ENSMUSG00000015971
Gene Name ARP8 actin-related protein 8
Synonyms ARP8, 5730542K05Rik
MMRRC Submission 042710-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5122 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 29700294-29717409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29704672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 57 (K57N)
Ref Sequence ENSEMBL: ENSMUSP00000153459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000224797] [ENSMUST00000225811]
AlphaFold Q8R2S9
Predicted Effect probably benign
Transcript: ENSMUST00000016115
AA Change: K80N

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: K80N

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
ACTIN 46 621 3.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224343
Predicted Effect probably benign
Transcript: ENSMUST00000224797
AA Change: K80N

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225793
Predicted Effect possibly damaging
Transcript: ENSMUST00000225811
AA Change: K57N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Cpt1b A G 15: 89,308,226 (GRCm39) S160P probably benign Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fam53b T A 7: 132,380,991 (GRCm39) probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Itsn1 A G 16: 91,690,732 (GRCm39) probably benign Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tbc1d9 T A 8: 83,963,172 (GRCm39) Y295N probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Vasp T C 7: 18,998,697 (GRCm39) N20S probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Actr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Actr8 APN 14 29,710,292 (GRCm39) missense probably damaging 1.00
IGL01449:Actr8 APN 14 29,712,927 (GRCm39) critical splice donor site probably null
IGL01577:Actr8 APN 14 29,709,232 (GRCm39) missense probably benign
IGL02118:Actr8 APN 14 29,704,728 (GRCm39) critical splice donor site probably null
IGL02647:Actr8 APN 14 29,712,847 (GRCm39) missense probably damaging 1.00
IGL02659:Actr8 APN 14 29,708,298 (GRCm39) missense probably damaging 1.00
IGL02696:Actr8 APN 14 29,704,628 (GRCm39) missense probably benign 0.33
IGL03015:Actr8 APN 14 29,708,273 (GRCm39) missense possibly damaging 0.81
IGL03335:Actr8 APN 14 29,700,514 (GRCm39) missense probably benign
R0512:Actr8 UTSW 14 29,700,513 (GRCm39) missense probably benign 0.00
R0735:Actr8 UTSW 14 29,711,669 (GRCm39) missense probably benign 0.02
R0926:Actr8 UTSW 14 29,709,181 (GRCm39) missense probably benign 0.02
R1443:Actr8 UTSW 14 29,706,056 (GRCm39) missense possibly damaging 0.73
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1616:Actr8 UTSW 14 29,704,601 (GRCm39) missense possibly damaging 0.53
R2097:Actr8 UTSW 14 29,709,185 (GRCm39) missense probably damaging 0.98
R2240:Actr8 UTSW 14 29,711,714 (GRCm39) missense possibly damaging 0.94
R2570:Actr8 UTSW 14 29,709,239 (GRCm39) missense probably damaging 1.00
R5439:Actr8 UTSW 14 29,708,952 (GRCm39) missense probably damaging 1.00
R5697:Actr8 UTSW 14 29,713,630 (GRCm39) missense possibly damaging 0.73
R5727:Actr8 UTSW 14 29,712,838 (GRCm39) missense probably benign 0.01
R5860:Actr8 UTSW 14 29,708,242 (GRCm39) nonsense probably null
R5988:Actr8 UTSW 14 29,715,030 (GRCm39) missense possibly damaging 0.71
R6006:Actr8 UTSW 14 29,706,099 (GRCm39) critical splice donor site probably null
R6009:Actr8 UTSW 14 29,700,454 (GRCm39) unclassified probably benign
R6155:Actr8 UTSW 14 29,700,546 (GRCm39) critical splice donor site probably null
R6190:Actr8 UTSW 14 29,713,674 (GRCm39) nonsense probably null
R6329:Actr8 UTSW 14 29,715,041 (GRCm39) nonsense probably null
R6483:Actr8 UTSW 14 29,700,538 (GRCm39) missense possibly damaging 0.53
R6517:Actr8 UTSW 14 29,704,673 (GRCm39) nonsense probably null
R6562:Actr8 UTSW 14 29,708,411 (GRCm39) splice site probably null
R7484:Actr8 UTSW 14 29,714,925 (GRCm39) missense probably damaging 1.00
R8190:Actr8 UTSW 14 29,706,030 (GRCm39) missense possibly damaging 0.66
R8236:Actr8 UTSW 14 29,704,585 (GRCm39) missense probably damaging 1.00
R8516:Actr8 UTSW 14 29,712,856 (GRCm39) missense probably benign 0.17
R9484:Actr8 UTSW 14 29,708,301 (GRCm39) missense probably benign 0.19
Z1177:Actr8 UTSW 14 29,709,199 (GRCm39) missense probably damaging 0.99
Z1177:Actr8 UTSW 14 29,708,358 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGATGTCCCTATGTTGGTCAC -3'
(R):5'- CCTGCAACCCTCAGTGATATTAC -3'

Sequencing Primer
(F):5'- ATGTTGGTCACCTATCACTGTC -3'
(R):5'- TTACAGTGAGCCACCATGTG -3'
Posted On 2016-06-15