Incidental Mutation 'R4289:Actl6a'
ID 322316
Institutional Source Beutler Lab
Gene Symbol Actl6a
Ensembl Gene ENSMUSG00000027671
Gene Name actin-like 6A
Synonyms ARP4, Actl6, 2810432C06Rik, Baf53a
MMRRC Submission 041654-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4289 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 32762695-32781122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32766263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 39 (T39M)
Ref Sequence ENSEMBL: ENSMUSP00000029214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000126144] [ENSMUST00000193615] [ENSMUST00000194781]
AlphaFold Q9Z2N8
Predicted Effect possibly damaging
Transcript: ENSMUST00000029214
AA Change: T39M

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: T39M

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: T43M

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
AA Change: T43M

DomainStartEndE-ValueType
ACTIN 15 245 1.5e-32 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgdib T C 6: 136,901,156 (GRCm39) N191S probably benign Het
Arhgef39 A G 4: 43,497,353 (GRCm39) probably benign Het
Baz1a G A 12: 54,947,233 (GRCm39) R1139C probably damaging Het
Cdhr5 A T 7: 140,852,752 (GRCm39) I78N probably damaging Het
Cfap97 T A 8: 46,645,698 (GRCm39) N525K probably benign Het
Cntn2 T A 1: 132,455,481 (GRCm39) Y252F probably benign Het
Cyp3a57 G A 5: 145,286,207 (GRCm39) G48S probably damaging Het
Cyp4v3 A C 8: 45,781,260 (GRCm39) F73V possibly damaging Het
Ear10 T C 14: 44,160,404 (GRCm39) D141G probably benign Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Fdxacb1 A T 9: 50,683,879 (GRCm39) Q614L probably damaging Het
Gm10267 T C 18: 44,290,331 (GRCm39) T59A probably damaging Het
Gm5581 C T 6: 131,144,519 (GRCm39) noncoding transcript Het
Gm5592 G T 7: 40,808,336 (GRCm39) probably benign Het
Gtf2a1l A G 17: 89,001,884 (GRCm39) T200A probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ift122 T C 6: 115,900,852 (GRCm39) C1057R probably damaging Het
Kirrel3 A T 9: 34,934,769 (GRCm39) N73I probably benign Het
Kndc1 A G 7: 139,490,798 (GRCm39) I433M probably benign Het
Mks1 T C 11: 87,747,530 (GRCm39) probably benign Het
Mmp14 A T 14: 54,673,665 (GRCm39) K110* probably null Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Mrpl36 A T 13: 73,479,777 (GRCm39) probably null Het
Mypn T C 10: 62,966,961 (GRCm39) E905G probably damaging Het
Ncam1 G T 9: 49,468,472 (GRCm39) T329N probably damaging Het
Nfkbie T C 17: 45,869,516 (GRCm39) L157P probably damaging Het
Or14c45 T A 7: 86,176,262 (GRCm39) I99N probably damaging Het
Or4f47 T A 2: 111,972,319 (GRCm39) S10T probably benign Het
Pappa C T 4: 65,074,100 (GRCm39) A218V probably benign Het
Plekhg5 T C 4: 152,196,884 (GRCm39) Y737H probably benign Het
Plod2 G A 9: 92,485,041 (GRCm39) R514Q possibly damaging Het
Plxnb1 C T 9: 108,943,420 (GRCm39) R1888W probably damaging Het
Prss45 A G 9: 110,669,997 (GRCm39) T269A probably benign Het
Ptpn13 A G 5: 103,681,151 (GRCm39) T784A probably damaging Het
Pycr3 T C 15: 75,790,655 (GRCm39) N68S probably benign Het
Rbis T C 3: 14,674,714 (GRCm39) M1V probably null Het
Rdh14 A T 12: 10,444,949 (GRCm39) N267Y probably benign Het
Rph3a G A 5: 121,111,368 (GRCm39) R71C probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Spata13 T A 14: 60,928,523 (GRCm39) V27E probably damaging Het
Tbc1d1 T A 5: 64,417,771 (GRCm39) S312T probably damaging Het
Tcp11l2 T C 10: 84,440,937 (GRCm39) probably null Het
Trdn C T 10: 33,340,578 (GRCm39) S604L probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Tyw3 A T 3: 154,302,645 (GRCm39) F30I probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Vmn2r74 C T 7: 85,606,562 (GRCm39) M261I probably benign Het
Zfp217 C T 2: 169,956,707 (GRCm39) G764S probably benign Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Zfp748 T A 13: 67,689,202 (GRCm39) H686L probably 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
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'- TTGACATTGGATCGTACACAGTG -3'
(R):5'- AGCTAATTCATACCCATGCCATTC -3'

Sequencing Primer
(F):5'- TCGTACACAGTGAGGGCTG -3'
(R):5'- ATACCCATGCCATTCTTGAGTGG -3'
Posted On 2015-06-20