Incidental Mutation 'R1611:Actr6'
ID 176806
Institutional Source Beutler Lab
Gene Symbol Actr6
Ensembl Gene ENSMUSG00000019948
Gene Name ARP6 actin-related protein 6
Synonyms CDA12, ArpX, 2010200J04Rik, Arp6
MMRRC Submission 039648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1611 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 89547833-89568157 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89568064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 14 (K14*)
Ref Sequence ENSEMBL: ENSMUSP00000151218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020109] [ENSMUST00000220388]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000020109
AA Change: K14*
SMART Domains Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: K14*

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 null
Transcript: ENSMUST00000220388
AA Change: K14*
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A T 11: 54,216,390 (GRCm39) I186F possibly damaging Het
Adgrv1 A T 13: 81,707,236 (GRCm39) V1390E probably damaging Het
Akap1 C T 11: 88,736,104 (GRCm39) R186K probably benign Het
Alg10b T A 15: 90,109,984 (GRCm39) V99D probably damaging Het
Atp2c1 C T 9: 105,320,051 (GRCm39) G407S probably damaging Het
Atp9a T C 2: 168,515,489 (GRCm39) M401V probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bclaf1 T C 10: 20,198,998 (GRCm39) probably benign Het
Bcr T A 10: 74,961,034 (GRCm39) probably null Het
Bivm T C 1: 44,165,907 (GRCm39) I119T possibly damaging Het
Cacna1h A G 17: 25,600,445 (GRCm39) I1632T probably damaging Het
Capn9 G A 8: 125,338,251 (GRCm39) V537M possibly damaging Het
Cdk11b G A 4: 155,726,032 (GRCm39) probably benign Het
Cdk18 T A 1: 132,050,113 (GRCm39) I21F probably damaging Het
Cep85l T C 10: 53,224,777 (GRCm39) T271A probably benign Het
Chrm5 T C 2: 112,309,532 (GRCm39) N528S possibly damaging Het
Cpsf6 T A 10: 117,197,733 (GRCm39) probably benign Het
Cpt1c T C 7: 44,609,536 (GRCm39) T689A probably benign Het
D030068K23Rik T C 8: 109,975,935 (GRCm39) Y64C unknown Het
Ddb1 T A 19: 10,604,128 (GRCm39) probably null Het
Ddb1 T A 19: 10,590,252 (GRCm39) C260S probably damaging Het
Depdc5 C A 5: 33,148,297 (GRCm39) Q1478K probably damaging Het
Diaph1 A C 18: 38,033,755 (GRCm39) M247R unknown Het
Dnai3 T C 3: 145,801,113 (GRCm39) Y115C probably damaging Het
Dusp8 T C 7: 141,636,694 (GRCm39) S299G probably benign Het
Erbb4 C A 1: 68,079,547 (GRCm39) G1178C probably damaging Het
Exoc7 A T 11: 116,186,091 (GRCm39) I370N possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gm12353 T A 4: 19,631,843 (GRCm39) Y27* probably null Het
Gnl1 C T 17: 36,298,441 (GRCm39) T395I probably damaging Het
Hpse2 G A 19: 42,777,504 (GRCm39) T554I probably damaging Het
Hsd17b11 T C 5: 104,157,765 (GRCm39) I116V probably benign Het
Inava G A 1: 136,143,855 (GRCm39) P527L probably damaging Het
Kif24 A T 4: 41,423,552 (GRCm39) V233E probably benign Het
Klhl5 A G 5: 65,321,992 (GRCm39) T673A probably benign Het
Kmt2c C A 5: 25,564,309 (GRCm39) probably null Het
Lipg T C 18: 75,081,130 (GRCm39) N317S possibly damaging Het
Lpin1 A T 12: 16,627,219 (GRCm39) L109Q probably null Het
Lyst A G 13: 13,809,482 (GRCm39) E384G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Naa35 G T 13: 59,776,747 (GRCm39) R574L probably benign Het
Ncor2 T C 5: 125,187,084 (GRCm39) probably benign Het
Nedd9 T A 13: 41,470,406 (GRCm39) D249V probably benign Het
Nsg1 T A 5: 38,296,060 (GRCm39) K38* probably null Het
Nup155 T A 15: 8,159,644 (GRCm39) D518E probably damaging Het
Or5i1 T A 2: 87,612,968 (GRCm39) I28N probably benign Het
Ovol1 T A 19: 5,601,098 (GRCm39) H231L probably damaging Het
Parg A G 14: 31,960,527 (GRCm39) I586V probably damaging Het
Pde7b T C 10: 20,310,236 (GRCm39) N242S probably benign Het
Pias3 T A 3: 96,607,013 (GRCm39) probably null Het
Pramel13 A T 4: 144,119,382 (GRCm39) V395E probably benign Het
Ptprf A G 4: 118,093,430 (GRCm39) V404A probably benign Het
Rigi T C 4: 40,223,862 (GRCm39) Y339C probably damaging Het
Rnf145 T C 11: 44,442,625 (GRCm39) L259P probably damaging Het
Rps6ka5 C G 12: 100,537,111 (GRCm39) V540L possibly damaging Het
Ryr3 C T 2: 112,483,850 (GRCm39) D3966N possibly damaging Het
Samd9l A T 6: 3,373,771 (GRCm39) S1163R probably benign Het
Serpinb9g T C 13: 33,676,857 (GRCm39) I213T possibly damaging Het
Sil1 A T 18: 35,402,141 (GRCm39) V331E possibly damaging Het
Ski A G 4: 155,244,395 (GRCm39) F410S probably damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Slfnl1 A G 4: 120,390,574 (GRCm39) E75G probably benign Het
Sp1 T A 15: 102,339,370 (GRCm39) I436N probably damaging Het
Taf4b A T 18: 14,977,526 (GRCm39) E766V probably null Het
Tgfbr1 A G 4: 47,396,526 (GRCm39) Y180C probably damaging Het
Ube4a T C 9: 44,868,035 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,011,958 (GRCm39) C606* probably null Het
Zfp341 C A 2: 154,487,623 (GRCm39) H702Q probably damaging 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
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
R6913:Actr6 UTSW 10 89,562,558 (GRCm39) missense probably damaging 1.00
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'- GGAACATACATTCACTTCCGCAGCC -3'
(R):5'- GAATGTCGCTGCCACCGAAAATC -3'

Sequencing Primer
(F):5'- CAAAGTCAATTTCAGTTCAAAGCATC -3'
(R):5'- GCATTTGAAAACTGGATACAAGCAC -3'
Posted On 2014-04-24