Incidental Mutation 'R1193:Actl6a'
ID 100929
Institutional Source Beutler Lab
Gene Symbol Actl6a
Ensembl Gene ENSMUSG00000027671
Gene Name actin-like 6A
Synonyms ARP4, Actl6, 2810432C06Rik, Baf53a
MMRRC Submission 039265-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1193 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 32762695-32781122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32766293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
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: D49G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: D49G

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 noncoding transcript
Transcript: ENSMUST00000135400
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 noncoding transcript
Transcript: ENSMUST00000194226
Predicted Effect probably benign
Transcript: ENSMUST00000194781
AA Change: D53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
AA Change: D53G

DomainStartEndE-ValueType
ACTIN 15 245 1.5e-32 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Gpm6a A T 8: 55,500,268 (GRCm39) probably null Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt5 G A 2: 5,868,411 (GRCm39) S103N probably benign Het
Or5an9 A T 19: 12,187,803 (GRCm39) Y291F probably damaging Het
Or6z3 A G 7: 6,463,715 (GRCm39) N69S probably benign Het
Pds5a G T 5: 65,795,145 (GRCm39) A697E probably damaging Het
Pik3ca A G 3: 32,510,242 (GRCm39) D806G probably damaging Het
Rars1 C T 11: 35,700,153 (GRCm39) A548T possibly damaging Het
Rfk C T 19: 17,372,685 (GRCm39) P69L probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sp4 C T 12: 118,262,981 (GRCm39) R355H possibly damaging Het
Tcaim T C 9: 122,647,895 (GRCm39) Y137H probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem150c T C 5: 100,231,451 (GRCm39) T175A probably damaging Het
Twnk A G 19: 44,996,229 (GRCm39) K221E probably damaging Het
Vmn2r67 T C 7: 84,800,653 (GRCm39) K428E probably damaging Het
Vmn2r82 T A 10: 79,213,739 (GRCm39) Y108* probably null Het
Wwox G A 8: 115,406,614 (GRCm39) V202M probably benign 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
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
R8734:Actl6a UTSW 3 32,774,104 (GRCm39) missense probably benign 0.06
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'- TCTCTTCAGATGAAGTTGGCGCTC -3'
(R):5'- ACCATGTGCCCAGCATACAGTTTTC -3'

Sequencing Primer
(F):5'- TGACATTGGATCGTACACAGTGAG -3'
(R):5'- CAAACAAACACTTGTTCATCTTGC -3'
Posted On 2014-01-15