Incidental Mutation 'R5640:Actl6a'
ID 440584
Institutional Source Beutler Lab
Gene Symbol Actl6a
Ensembl Gene ENSMUSG00000027671
Gene Name actin-like 6A
Synonyms ARP4, Actl6, 2810432C06Rik, Baf53a
MMRRC Submission 043289-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5640 (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 32772199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 170 (T170A)
Ref Sequence ENSEMBL: ENSMUSP00000141543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000126144] [ENSMUST00000193615] [ENSMUST00000194781]
AlphaFold Q9Z2N8
Predicted Effect probably damaging
Transcript: ENSMUST00000029214
AA Change: T166A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: T166A

DomainStartEndE-ValueType
ACTIN 11 429 1.37e-189 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126144
AA Change: T114A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114317
Gene: ENSMUSG00000027671
AA Change: T114A

DomainStartEndE-ValueType
ACTIN 1 204 4.28e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153779
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: ENSMUST00000194497
Predicted Effect probably damaging
Transcript: ENSMUST00000194781
AA Change: T170A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
AA Change: T170A

DomainStartEndE-ValueType
ACTIN 15 245 1.5e-32 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,861,511 (GRCm39) Y220C probably damaging Het
Adamts8 T C 9: 30,867,796 (GRCm39) V540A probably benign Het
Aga T C 8: 53,964,919 (GRCm39) L27P probably damaging Het
Agmat T A 4: 141,483,134 (GRCm39) H189Q probably damaging Het
Alx3 C A 3: 107,507,977 (GRCm39) T162K probably damaging Het
Armc2 T A 10: 41,887,894 (GRCm39) I30L possibly damaging Het
Atp10d T G 5: 72,404,552 (GRCm39) Y487D probably damaging Het
Atp13a4 C T 16: 29,234,649 (GRCm39) M908I probably damaging Het
B4galt2 T G 4: 117,731,195 (GRCm39) N322T probably benign Het
Bmal1 C T 7: 112,907,888 (GRCm39) P530L probably damaging Het
Brdt A T 5: 107,507,174 (GRCm39) K525* probably null Het
Ccdc168 T C 1: 44,101,087 (GRCm39) I4V probably benign Het
Ces3a T A 8: 105,778,377 (GRCm39) M246K probably benign Het
Chd9 T A 8: 91,763,190 (GRCm39) H2338Q probably damaging Het
Cyp3a16 T A 5: 145,389,633 (GRCm39) D244V possibly damaging Het
Dhrs9 C A 2: 69,224,822 (GRCm39) A170E probably damaging Het
Dlg5 T C 14: 24,220,529 (GRCm39) N550D probably damaging Het
Dnah8 C T 17: 31,022,082 (GRCm39) T3894I probably damaging Het
Dpys T C 15: 39,705,462 (GRCm39) H217R probably damaging Het
Dpysl2 C T 14: 67,071,817 (GRCm39) V108I probably benign Het
Eprs1 A G 1: 185,106,381 (GRCm39) T199A probably benign Het
Fads1 A G 19: 10,163,767 (GRCm39) D183G probably damaging Het
Fam110b T G 4: 5,798,689 (GRCm39) Y36D probably damaging Het
Fbxl21 G A 13: 56,685,194 (GRCm39) D407N probably benign Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gnas C A 2: 174,126,764 (GRCm39) R100S probably benign Het
Gse1 A G 8: 121,289,416 (GRCm39) H90R possibly damaging Het
Hoxc10 G T 15: 102,875,702 (GRCm39) C137F probably benign Het
Ipp T G 4: 116,377,886 (GRCm39) L252R possibly damaging Het
Jmjd1c T A 10: 67,061,857 (GRCm39) S1403R probably benign Het
Kif19a A G 11: 114,670,041 (GRCm39) M79V probably benign Het
Lipo4 T C 19: 33,478,986 (GRCm39) T285A possibly damaging Het
Lrrc66 A T 5: 73,765,977 (GRCm39) D355E probably benign Het
Lrsam1 T A 2: 32,835,864 (GRCm39) Q301L probably benign Het
Med6 C T 12: 81,628,628 (GRCm39) R138Q probably damaging Het
Nlrc5 A G 8: 95,202,421 (GRCm39) T174A probably benign Het
Nrbp1 C T 5: 31,406,929 (GRCm39) R322W possibly damaging Het
Or10ak14 T A 4: 118,610,986 (GRCm39) T250S probably benign Het
Or11g24 C A 14: 50,662,111 (GRCm39) A45D probably benign Het
Or4a47 T A 2: 89,666,282 (GRCm39) E2D probably benign Het
Pde3a A G 6: 141,429,641 (GRCm39) E734G probably damaging Het
Pgap6 C T 17: 26,337,846 (GRCm39) T410I possibly damaging Het
Pnpla7 C T 2: 24,893,013 (GRCm39) T167I possibly damaging Het
Pop7 T C 5: 137,500,321 (GRCm39) N4S possibly damaging Het
Ppm1h C A 10: 122,618,183 (GRCm39) P114Q probably benign Het
Prdm16 T C 4: 154,426,367 (GRCm39) T473A probably benign Het
Prdm6 T C 18: 53,669,813 (GRCm39) probably null Het
Prkdc T G 16: 15,647,633 (GRCm39) W3686G possibly damaging Het
Ptchd4 C A 17: 42,814,026 (GRCm39) H642Q possibly damaging Het
Rad1 A G 15: 10,496,009 (GRCm39) Y228C possibly damaging Het
Rgs22 G A 15: 36,107,101 (GRCm39) T56I probably benign Het
Rnf135 C A 11: 80,084,733 (GRCm39) H169N probably benign Het
Rnft1 C T 11: 86,377,319 (GRCm39) Q128* probably null Het
Sez6 T C 11: 77,864,585 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,649,769 (GRCm39) S125G probably benign Het
Sik2 T C 9: 50,826,806 (GRCm39) E295G possibly damaging Het
Themis A G 10: 28,739,372 (GRCm39) Q614R probably damaging Het
Thsd7b T A 1: 130,044,408 (GRCm39) C1129* probably null Het
Tmem68 A T 4: 3,569,512 (GRCm39) F59L probably benign Het
Vmn2r107 A G 17: 20,595,426 (GRCm39) T660A probably damaging Het
Vwa5b2 G T 16: 20,416,292 (GRCm39) C484F probably damaging Het
Zfp418 T A 7: 7,184,980 (GRCm39) C314* probably null 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
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'- AAACCATTCTGGGAGTCCTGC -3'
(R):5'- TACTTGGAAATGGATGTGCTCC -3'

Sequencing Primer
(F):5'- GCCTGTGCAAGTTCTTTTCAAGAC -3'
(R):5'- GATGTGCTCCAATAGAATTCCTGGTC -3'
Posted On 2016-11-08