Incidental Mutation 'R6913:Actr6'
ID 539188
Institutional Source Beutler Lab
Gene Symbol Actr6
Ensembl Gene ENSMUSG00000019948
Gene Name ARP6 actin-related protein 6
Synonyms CDA12, ArpX, 2010200J04Rik, Arp6
MMRRC Submission 045034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6913 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 89547833-89568157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89562558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 107 (E107G)
Ref Sequence ENSEMBL: ENSMUSP00000020109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020109] [ENSMUST00000220388]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020109
AA Change: E107G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: E107G

DomainStartEndE-ValueType
ACTIN 1 395 1.09e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220388
Meta Mutation Damage Score 0.7950 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,197,494 (GRCm39) I619N possibly damaging Het
Accsl T C 2: 93,696,488 (GRCm39) K41E possibly damaging Het
Adam7 T A 14: 68,771,100 (GRCm39) M9L probably benign Het
Adamts12 T A 15: 11,215,778 (GRCm39) H266Q probably damaging Het
Adamts16 A G 13: 70,877,017 (GRCm39) F1208S possibly damaging Het
Ankrd11 T C 8: 123,621,650 (GRCm39) D734G probably benign Het
Ap1b1 T C 11: 4,962,972 (GRCm39) V43A possibly damaging Het
Asnsd1 A G 1: 53,387,390 (GRCm39) V79A probably damaging Het
Aste1 T A 9: 105,274,607 (GRCm39) S221R probably benign Het
Ccndbp1 G A 2: 120,840,347 (GRCm39) E94K probably benign Het
Cdc34 G A 10: 79,520,937 (GRCm39) probably null Het
Cdh16 T C 8: 105,348,896 (GRCm39) D67G probably benign Het
Chd8 T C 14: 52,451,951 (GRCm39) E1348G probably damaging Het
Chl1 C T 6: 103,642,909 (GRCm39) Q216* probably null Het
Cse1l G A 2: 166,771,797 (GRCm39) V353I possibly damaging Het
Ctbp2 G A 7: 132,616,455 (GRCm39) S160F possibly damaging Het
Cyp1a1 C A 9: 57,607,576 (GRCm39) T68K probably damaging Het
Dennd11 T C 6: 40,383,851 (GRCm39) N397S possibly damaging Het
Dlgap2 T A 8: 14,828,374 (GRCm39) M594K probably benign Het
Dnah6 C T 6: 73,189,505 (GRCm39) E48K probably benign Het
Dock2 A G 11: 34,647,049 (GRCm39) V35A probably damaging Het
Edem2 A T 2: 155,568,594 (GRCm39) S73R probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Frem2 T C 3: 53,424,242 (GRCm39) N3065S probably damaging Het
Gal3st4 A T 5: 138,269,090 (GRCm39) S123R possibly damaging Het
Garnl3 T A 2: 32,876,841 (GRCm39) I937F possibly damaging Het
Gfod2 C T 8: 106,443,995 (GRCm39) V183M possibly damaging Het
Glipr1l1 T C 10: 111,898,339 (GRCm39) probably null Het
Gm7145 T G 1: 117,913,711 (GRCm39) C198G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Eb2 G A 17: 34,552,523 (GRCm39) A123T possibly damaging Het
Ighv1-55 T C 12: 115,172,129 (GRCm39) I7V probably benign Het
Itpripl2 G T 7: 118,090,332 (GRCm39) P76T possibly damaging Het
Kat6a C A 8: 23,393,215 (GRCm39) A231E possibly damaging Het
Lipo3 C T 19: 33,757,705 (GRCm39) V255I probably benign Het
Mamstr A T 7: 45,292,662 (GRCm39) M141L probably benign Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Mei1 A G 15: 81,973,810 (GRCm39) N523S probably benign Het
Mill2 A G 7: 18,590,351 (GRCm39) T144A probably null Het
Muc16 C A 9: 18,553,959 (GRCm39) L4111F unknown Het
Mylk2 G A 2: 152,755,610 (GRCm39) G258E possibly damaging Het
Myom2 T G 8: 15,115,710 (GRCm39) S42A probably benign Het
Nab1 C A 1: 52,503,995 (GRCm39) G401C possibly damaging Het
Nifk T C 1: 118,260,592 (GRCm39) V244A possibly damaging Het
Nipsnap2 C A 5: 129,830,357 (GRCm39) Q224K probably benign Het
Nop16 T G 13: 54,737,553 (GRCm39) K47Q probably damaging Het
Nup153 A T 13: 46,853,192 (GRCm39) S548R probably damaging Het
Or2at1 A C 7: 99,416,924 (GRCm39) D185A probably damaging Het
Or4g17 A G 2: 111,209,347 (GRCm39) M1V probably null Het
Or5b111 A G 19: 13,290,998 (GRCm39) I217T probably benign Het
Pard6g G A 18: 80,160,534 (GRCm39) V216I possibly damaging Het
Pcdh20 C T 14: 88,706,038 (GRCm39) V421I probably benign Het
Pcif1 G A 2: 164,726,224 (GRCm39) probably null Het
Pde11a C A 2: 76,168,084 (GRCm39) V290F probably damaging Het
Pisd T C 5: 32,894,773 (GRCm39) Y511C probably damaging Het
Polg A T 7: 79,110,405 (GRCm39) D276E probably damaging Het
Polr3b T C 10: 84,549,496 (GRCm39) V906A probably damaging Het
Prkcg C T 7: 3,362,335 (GRCm39) P270S probably benign Het
Rapgef2 T A 3: 78,993,281 (GRCm39) I884F probably damaging Het
Rpl13 C A 8: 123,830,014 (GRCm39) N113K possibly damaging Het
Rxra T A 2: 27,631,186 (GRCm39) I139N probably damaging Het
Sf3b5 T A 10: 12,884,487 (GRCm39) C41S probably benign Het
Spata31e3 G T 13: 50,399,293 (GRCm39) P1011H probably damaging Het
Stk24 C T 14: 121,540,221 (GRCm39) R126Q probably damaging Het
Taar8b T C 10: 23,967,963 (GRCm39) D77G possibly damaging Het
Tbc1d1 T A 5: 64,468,452 (GRCm39) C566S probably benign Het
Tenm3 A T 8: 48,751,972 (GRCm39) M948K probably damaging Het
Thbs4 T A 13: 92,894,444 (GRCm39) Q693L possibly damaging Het
Tnfrsf26 A T 7: 143,172,126 (GRCm39) C61* probably null Het
Trp63 A G 16: 25,707,918 (GRCm39) E636G probably damaging Het
Try5 T C 6: 41,288,266 (GRCm39) Y121C probably damaging Het
Ttn G T 2: 76,660,755 (GRCm39) probably benign Het
Vamp1 T A 6: 125,195,908 (GRCm39) V55D probably damaging Het
Vmn2r117 T C 17: 23,698,537 (GRCm39) N12S probably damaging Het
Vmn2r90 G A 17: 17,924,323 (GRCm39) G41S probably damaging Het
Zfp462 T A 4: 55,007,775 (GRCm39) D71E probably benign Het
Other mutations in Actr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Actr6 APN 10 89,561,703 (GRCm39) missense probably damaging 0.99
IGL01420:Actr6 APN 10 89,561,027 (GRCm39) unclassified probably benign
IGL02387:Actr6 APN 10 89,550,846 (GRCm39) missense probably damaging 1.00
IGL03073:Actr6 APN 10 89,562,556 (GRCm39) missense probably damaging 1.00
Allelujeva UTSW 10 89,550,841 (GRCm39) missense probably benign 0.00
Exalt UTSW 10 89,568,064 (GRCm39) nonsense probably null
preiset UTSW 10 89,562,558 (GRCm39) missense probably damaging 1.00
R0145:Actr6 UTSW 10 89,564,040 (GRCm39) nonsense probably null
R1413:Actr6 UTSW 10 89,564,019 (GRCm39) nonsense probably null
R1611:Actr6 UTSW 10 89,568,064 (GRCm39) nonsense probably null
R4271:Actr6 UTSW 10 89,553,101 (GRCm39) missense probably benign 0.10
R4492:Actr6 UTSW 10 89,561,676 (GRCm39) missense probably benign 0.01
R4913:Actr6 UTSW 10 89,550,808 (GRCm39) missense probably benign 0.09
R4976:Actr6 UTSW 10 89,561,717 (GRCm39) missense probably damaging 1.00
R5119:Actr6 UTSW 10 89,561,717 (GRCm39) missense probably damaging 1.00
R5767:Actr6 UTSW 10 89,562,617 (GRCm39) missense probably damaging 0.99
R5946:Actr6 UTSW 10 89,564,054 (GRCm39) missense probably benign 0.00
R6443:Actr6 UTSW 10 89,550,733 (GRCm39) missense probably damaging 0.98
R7196:Actr6 UTSW 10 89,550,784 (GRCm39) missense possibly damaging 0.89
R7201:Actr6 UTSW 10 89,548,374 (GRCm39) missense probably benign 0.10
R7585:Actr6 UTSW 10 89,561,658 (GRCm39) missense probably benign
R8559:Actr6 UTSW 10 89,568,048 (GRCm39) missense probably benign 0.00
R8809:Actr6 UTSW 10 89,550,841 (GRCm39) missense probably benign 0.00
R8918:Actr6 UTSW 10 89,553,057 (GRCm39) missense probably damaging 0.99
R9651:Actr6 UTSW 10 89,564,877 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTTATTTCCTTCAGACCTAAGAGC -3'
(R):5'- AGTTGTGCAGTCCCATGTTAG -3'

Sequencing Primer
(F):5'- AAGAGCTGCTGCCTAGTTCTCAG -3'
(R):5'- TCAAATCCTAGGTGTGGCCCTAAG -3'
Posted On 2018-11-06