Incidental Mutation 'R5767:Actr6'
ID446337
Institutional Source Beutler Lab
Gene Symbol Actr6
Ensembl Gene ENSMUSG00000019948
Gene NameARP6 actin-related protein 6
SynonymsArpX, Arp6, CDA12, 2010200J04Rik
MMRRC Submission 043367-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5767 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location89711971-89732295 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89726755 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 87 (D87E)
Ref Sequence ENSEMBL: ENSMUSP00000020109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020109] [ENSMUST00000220388]
Predicted Effect probably damaging
Transcript: ENSMUST00000020109
AA Change: D87E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: D87E

DomainStartEndE-ValueType
ACTIN 1 395 1.09e-110 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220059
Predicted Effect probably benign
Transcript: ENSMUST00000220388
Meta Mutation Damage Score 0.0833 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI429214 TCCCTGATGAAC TC 8: 36,994,229 probably null Het
Ano3 A T 2: 110,661,271 Y887N probably damaging Het
Arid4a A G 12: 71,060,093 D313G probably damaging Het
Armc2 A G 10: 42,011,927 V20A probably benign Het
C2 T A 17: 34,876,456 N171I possibly damaging Het
Cdh1 C A 8: 106,668,555 N865K probably damaging Het
Cep89 T A 7: 35,417,645 V224E probably damaging Het
Dennd2d C T 3: 106,487,815 probably benign Het
Diaph1 T A 18: 37,853,355 K1157N probably damaging Het
Dsg4 T A 18: 20,462,492 L584* probably null Het
Exoc4 G A 6: 33,918,432 A795T probably benign Het
Fbln5 A T 12: 101,765,209 I242N probably damaging Het
Gls2 A G 10: 128,205,221 H394R probably damaging Het
Gm27013 C T 6: 130,675,958 C847Y possibly damaging Het
Ifna5 C A 4: 88,835,799 T92K possibly damaging Het
Ireb2 A G 9: 54,900,516 M674V probably benign Het
Itga2 C T 13: 114,839,570 V1089M possibly damaging Het
Kctd16 A T 18: 40,258,869 Y170F probably benign Het
Kif15 A G 9: 123,013,974 N45D possibly damaging Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Mink1 A G 11: 70,606,075 K420E possibly damaging Het
Ms4a14 G T 19: 11,302,027 Q1056K probably benign Het
Olfr1053 T A 2: 86,314,398 E296V probably damaging Het
Olfr175-ps1 T C 16: 58,823,953 Y252C probably benign Het
Olfr738 T C 14: 50,413,778 V78A possibly damaging Het
Ovch2 T C 7: 107,781,978 E571G probably benign Het
Pmel T C 10: 128,714,381 V95A probably damaging Het
Ptger2 G T 14: 44,989,142 G60C probably benign Het
Ranbp2 T G 10: 58,476,825 S1122R probably benign Het
Rasal2 T C 1: 157,176,162 D309G probably damaging Het
Rcc2 T A 4: 140,715,919 C303S probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Serpini1 C T 3: 75,613,081 probably benign Het
Sgo2a G T 1: 58,019,660 E1133* probably null Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Smarcc1 G A 9: 110,132,183 probably benign Het
Tbcd A G 11: 121,592,692 E749G probably benign Het
Tmc3 G A 7: 83,599,982 A260T probably benign Het
Tnfrsf21 A G 17: 43,037,659 Y54C probably damaging Het
Uhrf1bp1l A G 10: 89,787,199 D312G possibly damaging Het
Urb1 T A 16: 90,776,163 M994L probably benign Het
Usp14 A T 18: 10,009,935 probably benign Het
Vps13a T C 19: 16,664,564 Y2233C probably damaging Het
Wdr66 G A 5: 123,298,521 V1038I probably benign Het
Wnt2 G T 6: 17,990,028 A290E probably damaging Het
Zc3h8 A T 2: 128,930,892 C225* probably null Het
Other mutations in Actr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Actr6 APN 10 89725841 missense probably damaging 0.99
IGL01420:Actr6 APN 10 89725165 unclassified probably benign
IGL02387:Actr6 APN 10 89714984 missense probably damaging 1.00
IGL03073:Actr6 APN 10 89726694 missense probably damaging 1.00
Exalt UTSW 10 89732202 nonsense probably null
R0145:Actr6 UTSW 10 89728178 nonsense probably null
R1413:Actr6 UTSW 10 89728157 nonsense probably null
R1611:Actr6 UTSW 10 89732202 nonsense probably null
R4271:Actr6 UTSW 10 89717239 missense probably benign 0.10
R4492:Actr6 UTSW 10 89725814 missense probably benign 0.01
R4913:Actr6 UTSW 10 89714946 missense probably benign 0.09
R4976:Actr6 UTSW 10 89725855 missense probably damaging 1.00
R5119:Actr6 UTSW 10 89725855 missense probably damaging 1.00
R5946:Actr6 UTSW 10 89728192 missense probably benign 0.00
R6443:Actr6 UTSW 10 89714871 missense probably damaging 0.98
R6913:Actr6 UTSW 10 89726696 missense probably damaging 1.00
R7196:Actr6 UTSW 10 89714922 missense possibly damaging 0.89
R7201:Actr6 UTSW 10 89712512 missense probably benign 0.10
R7585:Actr6 UTSW 10 89725796 missense probably benign
R8559:Actr6 UTSW 10 89732186 missense probably benign 0.00
R8809:Actr6 UTSW 10 89714979 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCTAGTTCTCAGGACCTTG -3'
(R):5'- ACAGTTGTGCAGTCCCATGTTAG -3'

Sequencing Primer
(F):5'- GCCTAGTTCTCAGGACCTTGAATTTC -3'
(R):5'- TCAAATCCTAGGTGTGGCCCTAAG -3'
Posted On2016-11-21