Incidental Mutation 'IGL01691:Actl6a'
ID 104110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl6a
Ensembl Gene ENSMUSG00000027671
Gene Name actin-like 6A
Synonyms ARP4, Actl6, 2810432C06Rik, Baf53a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01691
Quality Score
Status
Chromosome 3
Chromosomal Location 32762695-32781122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32774349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 282 (M282K)
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: M282K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: M282K

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: 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 benign
Transcript: ENSMUST00000194781
SMART Domains Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
ACTIN 15 245 1.5e-32 SMART
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,142,742 (GRCm39) N831S probably damaging Het
Adamdec1 C T 14: 68,810,556 (GRCm39) R200Q probably damaging Het
Asb15 A G 6: 24,567,271 (GRCm39) I531V probably benign Het
Btrc T A 19: 45,501,117 (GRCm39) D223E probably benign Het
Ccdc30 T A 4: 119,250,761 (GRCm39) E161V probably damaging Het
Cd38 G A 5: 44,060,928 (GRCm39) probably benign Het
Clec2d T C 6: 129,161,185 (GRCm39) F94S probably damaging Het
Cwf19l1 C T 19: 44,109,311 (GRCm39) probably null Het
Dnah2 A T 11: 69,430,269 (GRCm39) N96K probably benign Het
Ephb6 G A 6: 41,591,449 (GRCm39) R202H probably benign Het
Gm43191 T A 3: 116,471,616 (GRCm39) I218L probably benign Het
Gm7168 G A 17: 14,169,140 (GRCm39) S169N probably damaging Het
Gm7964 T C 7: 83,405,344 (GRCm39) noncoding transcript Het
Kif20b T C 19: 34,913,143 (GRCm39) probably benign Het
Kmt2e A G 5: 23,702,089 (GRCm39) T906A probably benign Het
Mboat2 A G 12: 25,004,221 (GRCm39) N341D probably damaging Het
Msh6 T C 17: 88,292,907 (GRCm39) V554A probably benign Het
Ndc80 T C 17: 71,815,634 (GRCm39) T384A possibly damaging Het
Or1af1 G T 2: 37,110,038 (GRCm39) C179F probably damaging Het
Or8g18 G A 9: 39,149,315 (GRCm39) T135I probably benign Het
Ptpn5 G T 7: 46,732,906 (GRCm39) H312Q probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Rgs20 T C 1: 4,987,145 (GRCm39) T124A probably benign Het
Sox18 T C 2: 181,313,143 (GRCm39) S58G possibly damaging Het
Togaram2 A G 17: 72,036,485 (GRCm39) M1012V probably null Het
Usp48 A T 4: 137,350,583 (GRCm39) probably null Het
Other mutations in Actl6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Actl6a APN 3 32,766,313 (GRCm39) missense probably benign 0.01
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
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
Posted On 2014-01-21