Incidental Mutation 'R8734:Actl6a'
ID 662903
Institutional Source Beutler Lab
Gene Symbol Actl6a
Ensembl Gene ENSMUSG00000027671
Gene Name actin-like 6A
Synonyms ARP4, Actl6, 2810432C06Rik, Baf53a
MMRRC Submission 068582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8734 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32762695-32781122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32774104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 275 (D275N)
Ref Sequence ENSEMBL: ENSMUSP00000029214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000126144] [ENSMUST00000193615] [ENSMUST00000194781]
AlphaFold Q9Z2N8
Predicted Effect probably benign
Transcript: ENSMUST00000029214
AA Change: D275N

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: D275N

DomainStartEndE-ValueType
ACTIN 11 429 1.37e-189 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126144
SMART Domains Protein: ENSMUSP00000114317
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
ACTIN 1 204 4.28e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193231
Predicted Effect probably benign
Transcript: ENSMUST00000193615
SMART Domains Protein: ENSMUSP00000141354
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
Pfam:Actin 8 60 1.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194781
SMART Domains Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
ACTIN 15 245 1.5e-32 SMART
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E6.5. Mice homozygous for a conditional allele activated in hematopoietic cells exhibit bone marrow failure and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,770,855 (GRCm39) C5S probably damaging Het
Ahctf1 C A 1: 179,608,430 (GRCm39) E681* probably null Het
Ankub1 G A 3: 57,599,706 (GRCm39) S21L probably benign Het
Apmap T A 2: 150,430,824 (GRCm39) K178N probably benign Het
Arhgap15 T A 2: 44,133,130 (GRCm39) N345K probably damaging Het
Armc8 A G 9: 99,402,538 (GRCm39) V379A probably benign Het
Atmin G A 8: 117,681,525 (GRCm39) D175N possibly damaging Het
Atp5pd T C 11: 115,307,689 (GRCm39) E94G possibly damaging Het
B3gnt3 G A 8: 72,146,145 (GRCm39) T128M probably damaging Het
Ccdc88c T A 12: 100,906,394 (GRCm39) T1040S probably damaging Het
Crot C T 5: 9,028,208 (GRCm39) R247Q probably benign Het
Cyp2b9 A G 7: 25,898,035 (GRCm39) probably benign Het
Dcaf8 T C 1: 172,021,427 (GRCm39) W540R probably benign Het
Galnt11 T C 5: 25,455,222 (GRCm39) I186T possibly damaging Het
Gne T A 4: 44,072,911 (GRCm39) probably benign Het
Gpr37 A T 6: 25,688,201 (GRCm39) F299I probably benign Het
Gpr37l1 C T 1: 135,095,167 (GRCm39) A26T probably benign Het
Grm4 A G 17: 27,657,765 (GRCm39) Y414H probably damaging Het
Kcnh1 T C 1: 192,188,320 (GRCm39) I954T possibly damaging Het
Lias T C 5: 65,561,552 (GRCm39) Y308H probably damaging Het
Lrrc27 T A 7: 138,796,515 (GRCm39) probably benign Het
Lrrc8a C T 2: 30,146,619 (GRCm39) H478Y probably benign Het
Mdh2 T A 5: 135,812,983 (GRCm39) probably benign Het
Mug1 T A 6: 121,848,340 (GRCm39) I688K probably benign Het
Nrp1 A G 8: 129,207,420 (GRCm39) D605G probably benign Het
Nt5dc3 A G 10: 86,669,863 (GRCm39) Y486C possibly damaging Het
Or5m13 T A 2: 85,748,993 (GRCm39) C241* probably null Het
Or8s16 A T 15: 98,210,954 (GRCm39) L159H probably damaging Het
Or9s23 T A 1: 92,501,121 (GRCm39) V76D possibly damaging Het
Pam A T 1: 97,762,127 (GRCm39) probably benign Het
Pcolce A G 5: 137,609,550 (GRCm39) L14P probably damaging Het
Pcsk6 T C 7: 65,581,481 (GRCm39) I254T probably benign Het
Pdzrn3 A T 6: 101,128,567 (GRCm39) C700S probably damaging Het
Pglyrp2 A G 17: 32,634,976 (GRCm39) F462S probably damaging Het
Plaat3 T A 19: 7,552,347 (GRCm39) Y21N possibly damaging Het
Plekhm1 A T 11: 103,285,778 (GRCm39) L219Q probably damaging Het
Prkch T A 12: 73,632,018 (GRCm39) S28T possibly damaging Het
Prrc2c A T 1: 162,507,081 (GRCm39) S2529R possibly damaging Het
Prss3 G T 6: 41,350,827 (GRCm39) A221D probably damaging Het
Rbm33 T A 5: 28,557,874 (GRCm39) probably benign Het
Retreg1 T C 15: 25,968,493 (GRCm39) L83S probably damaging Het
Robo2 C T 16: 73,764,651 (GRCm39) probably benign Het
Slc25a47 T A 12: 108,820,247 (GRCm39) F84I probably benign Het
Sntb2 A G 8: 107,728,320 (GRCm39) I423V probably benign Het
Spart A T 3: 55,032,300 (GRCm39) D378V possibly damaging Het
Spint2 A T 7: 28,958,835 (GRCm39) F127Y probably damaging Het
Stag3 A G 5: 138,310,050 (GRCm39) T1233A probably benign Het
Tenm3 A G 8: 48,802,391 (GRCm39) I390T probably benign Het
Tigd2 A G 6: 59,187,184 (GRCm39) D17G probably damaging Het
Tln2 C A 9: 67,179,936 (GRCm39) A812S probably benign Het
Tmem234 A G 4: 129,501,317 (GRCm39) T133A probably benign Het
Trnp1 A G 4: 133,225,380 (GRCm39) F130S possibly damaging Het
Tsr1 A G 11: 74,794,652 (GRCm39) S436G probably benign Het
Ttn T C 2: 76,541,032 (GRCm39) I33985V probably benign Het
Usp34 A C 11: 23,394,184 (GRCm39) D2278A Het
Vav3 T A 3: 109,565,285 (GRCm39) F727Y probably benign Het
Vcl T C 14: 21,060,236 (GRCm39) probably null Het
Vps13c T A 9: 67,880,685 (GRCm39) D3507E probably damaging Het
Vtn A G 11: 78,391,090 (GRCm39) probably benign Het
Zfp319 A G 8: 96,054,938 (GRCm39) S422P possibly damaging Het
Other mutations in Actl6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Actl6a APN 3 32,766,313 (GRCm39) missense probably benign 0.01
IGL01691:Actl6a APN 3 32,774,349 (GRCm39) missense possibly damaging 0.94
IGL02902:Actl6a APN 3 32,776,791 (GRCm39) missense possibly damaging 0.93
R0194:Actl6a UTSW 3 32,779,469 (GRCm39) missense probably damaging 1.00
R1193:Actl6a UTSW 3 32,766,293 (GRCm39) missense probably benign 0.00
R1404:Actl6a UTSW 3 32,776,759 (GRCm39) unclassified probably benign
R1754:Actl6a UTSW 3 32,772,723 (GRCm39) missense probably damaging 1.00
R4289:Actl6a UTSW 3 32,766,263 (GRCm39) missense possibly damaging 0.87
R5020:Actl6a UTSW 3 32,774,656 (GRCm39) missense possibly damaging 0.79
R5165:Actl6a UTSW 3 32,774,357 (GRCm39) missense probably benign 0.01
R5272:Actl6a UTSW 3 32,772,759 (GRCm39) missense probably damaging 0.97
R5384:Actl6a UTSW 3 32,774,642 (GRCm39) missense probably damaging 1.00
R5640:Actl6a UTSW 3 32,772,199 (GRCm39) missense probably damaging 0.99
R5722:Actl6a UTSW 3 32,772,194 (GRCm39) missense probably damaging 0.97
R5865:Actl6a UTSW 3 32,766,277 (GRCm39) missense possibly damaging 0.80
R6208:Actl6a UTSW 3 32,766,043 (GRCm39) missense probably benign 0.05
R7094:Actl6a UTSW 3 32,760,487 (GRCm39) start gained probably benign
R7192:Actl6a UTSW 3 32,774,373 (GRCm39) missense probably damaging 1.00
R7866:Actl6a UTSW 3 32,766,262 (GRCm39) missense possibly damaging 0.87
R9022:Actl6a UTSW 3 32,769,649 (GRCm39) missense probably benign 0.03
R9075:Actl6a UTSW 3 32,769,641 (GRCm39) missense possibly damaging 0.94
R9209:Actl6a UTSW 3 32,779,469 (GRCm39) missense probably damaging 1.00
Z1176:Actl6a UTSW 3 32,780,692 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TTTTAGAAGAGTTGCCTGCCC -3'
(R):5'- GCAGTTCACAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- CTCTTCAAATGACTGAACCGTGAG -3'
(R):5'- GAAAGCAAGCCACTCTGTTC -3'
Posted On 2021-03-08