Incidental Mutation 'IGL03271:Actl6b'
ID 415280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl6b
Ensembl Gene ENSMUSG00000029712
Gene Name actin-like 6B
Synonyms Baf53b, Actl6, ArpNa
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # IGL03271
Quality Score
Status
Chromosome 5
Chromosomal Location 137551779-137567844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137564246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 256 (I256N)
Ref Sequence ENSEMBL: ENSMUSP00000119356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000136088] [ENSMUST00000136565] [ENSMUST00000139395] [ENSMUST00000196471] [ENSMUST00000198601] [ENSMUST00000198866] [ENSMUST00000199054] [ENSMUST00000198783]
AlphaFold Q99MR0
Predicted Effect probably damaging
Transcript: ENSMUST00000031725
AA Change: I256N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: I256N

DomainStartEndE-ValueType
ACTIN 11 379 4.16e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031729
SMART Domains Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 235 326 2.2e-12 PFAM
Pfam:Peptidase_M28 407 618 2.9e-16 PFAM
Pfam:TFR_dimer 664 788 5.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136088
SMART Domains Protein: ENSMUSP00000117138
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
Pfam:Actin 1 75 4.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136565
SMART Domains Protein: ENSMUSP00000117425
Gene: ENSMUSG00000029712

DomainStartEndE-ValueType
Pfam:Actin 1 116 1.3e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139395
AA Change: I256N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: I256N

DomainStartEndE-ValueType
ACTIN 11 426 5.96e-167 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196471
SMART Domains Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200190
Predicted Effect probably benign
Transcript: ENSMUST00000198601
Predicted Effect probably benign
Transcript: ENSMUST00000198866
SMART Domains Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199054
SMART Domains Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198783
SMART Domains Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PA 231 328 1.3e-12 PFAM
Pfam:Peptidase_M28 418 606 7.5e-15 PFAM
low complexity region 612 625 N/A INTRINSIC
Pfam:TFR_dimer 663 790 1.8e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family 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 subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for null mutations exhibit low survivor rate and most die within 2 days after birth and show hyperactivity due to reduced dendrite formation in neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,392,408 (GRCm39) V248L probably benign Het
Agl G T 3: 116,572,776 (GRCm39) T825K probably benign Het
Arid5b A T 10: 67,933,287 (GRCm39) S629T possibly damaging Het
Atp13a2 T C 4: 140,727,708 (GRCm39) I495T possibly damaging Het
Bcl6 G T 16: 23,788,756 (GRCm39) H537Q probably benign Het
Cdh12 A G 15: 21,586,539 (GRCm39) E786G probably benign Het
Cep290 T A 10: 100,373,663 (GRCm39) N1307K probably benign Het
Cops3 A T 11: 59,723,889 (GRCm39) N89K probably damaging Het
Cyp4a29 T C 4: 115,111,705 (GRCm39) V494A probably damaging Het
Dlg1 A G 16: 31,676,710 (GRCm39) H675R possibly damaging Het
Dnajc6 T A 4: 101,365,274 (GRCm39) probably benign Het
Dock10 C A 1: 80,483,126 (GRCm39) K2107N probably damaging Het
Dop1a T A 9: 86,386,275 (GRCm39) L382* probably null Het
Faxc A C 4: 21,948,757 (GRCm39) K156N possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapvd1 C A 2: 34,617,219 (GRCm39) probably benign Het
Gfm1 T C 3: 67,382,076 (GRCm39) Y717H probably damaging Het
Gm4884 A T 7: 40,692,699 (GRCm39) T223S probably benign Het
Gstm3 C A 3: 107,873,513 (GRCm39) V153F possibly damaging Het
H2-M10.5 G T 17: 37,084,243 (GRCm39) L68F possibly damaging Het
Hmcn1 G T 1: 150,474,175 (GRCm39) H4756N possibly damaging Het
Ift140 C A 17: 25,306,880 (GRCm39) R872S probably damaging Het
Lars2 T A 9: 123,288,549 (GRCm39) probably null Het
Ltbp4 A G 7: 27,029,240 (GRCm39) V149A unknown Het
Mpp2 A T 11: 101,954,249 (GRCm39) probably benign Het
Mybbp1a A G 11: 72,334,744 (GRCm39) probably benign Het
Nxpe4 C A 9: 48,304,345 (GRCm39) P144Q probably damaging Het
Or13p3 T A 4: 118,566,982 (GRCm39) I126N probably damaging Het
Or5p6 C T 7: 107,630,714 (GRCm39) V279M probably damaging Het
Parp4 C A 14: 56,823,082 (GRCm39) N67K probably benign Het
Pdk1 G T 2: 71,710,374 (GRCm39) probably benign Het
Phip A T 9: 82,766,877 (GRCm39) probably benign Het
Pls1 A G 9: 95,658,883 (GRCm39) S202P probably benign Het
Pmpcb A G 5: 21,943,874 (GRCm39) Y36C probably benign Het
Pole T C 5: 110,466,185 (GRCm39) S1296P probably benign Het
Ptpn13 T C 5: 103,610,014 (GRCm39) S4P probably damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sec61a2 A T 2: 5,887,745 (GRCm39) L79* probably null Het
Slc2a5 T C 4: 150,220,040 (GRCm39) L152P probably damaging Het
Smu1 C T 4: 40,738,408 (GRCm39) G442D probably benign Het
Spag16 T A 1: 69,892,511 (GRCm39) N97K probably benign Het
Spag6l C T 16: 16,598,592 (GRCm39) D300N probably damaging Het
Sult3a1 A G 10: 33,739,997 (GRCm39) T19A probably benign Het
Ttll6 A G 11: 96,047,513 (GRCm39) H704R probably benign Het
Uba1 T A X: 20,541,956 (GRCm39) D569E probably damaging Het
Umodl1 T A 17: 31,205,473 (GRCm39) Y689* probably null Het
Unc80 A G 1: 66,734,762 (GRCm39) probably benign Het
Utp15 C A 13: 98,390,202 (GRCm39) V282F probably damaging Het
Vmn1r184 A G 7: 25,967,034 (GRCm39) Y260C probably benign Het
Vmn1r69 A G 7: 10,314,596 (GRCm39) V45A probably benign Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Other mutations in Actl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Actl6b APN 5 137,552,899 (GRCm39) missense probably damaging 0.99
R0128:Actl6b UTSW 5 137,553,327 (GRCm39) missense probably benign
R0254:Actl6b UTSW 5 137,552,406 (GRCm39) intron probably benign
R0571:Actl6b UTSW 5 137,565,046 (GRCm39) unclassified probably benign
R1438:Actl6b UTSW 5 137,552,871 (GRCm39) missense probably damaging 0.99
R1530:Actl6b UTSW 5 137,567,640 (GRCm39) missense probably damaging 1.00
R1621:Actl6b UTSW 5 137,564,041 (GRCm39) missense probably benign 0.18
R2008:Actl6b UTSW 5 137,567,592 (GRCm39) missense probably damaging 1.00
R2907:Actl6b UTSW 5 137,565,559 (GRCm39) missense probably damaging 1.00
R3826:Actl6b UTSW 5 137,565,535 (GRCm39) missense probably damaging 0.99
R5326:Actl6b UTSW 5 137,565,313 (GRCm39) missense probably damaging 1.00
R5763:Actl6b UTSW 5 137,565,063 (GRCm39) missense possibly damaging 0.49
R5906:Actl6b UTSW 5 137,565,591 (GRCm39) missense possibly damaging 0.95
R5972:Actl6b UTSW 5 137,564,818 (GRCm39) missense possibly damaging 0.55
R6709:Actl6b UTSW 5 137,552,779 (GRCm39) missense possibly damaging 0.91
R7134:Actl6b UTSW 5 137,562,762 (GRCm39) missense probably damaging 0.96
R7249:Actl6b UTSW 5 137,553,347 (GRCm39) missense probably damaging 0.99
R7982:Actl6b UTSW 5 137,561,424 (GRCm39) missense probably benign 0.00
R8691:Actl6b UTSW 5 137,565,585 (GRCm39) missense probably damaging 1.00
R8805:Actl6b UTSW 5 137,552,918 (GRCm39) missense probably benign
R8831:Actl6b UTSW 5 137,565,305 (GRCm39) missense probably damaging 0.99
R9150:Actl6b UTSW 5 137,553,354 (GRCm39) frame shift probably null
R9471:Actl6b UTSW 5 137,565,319 (GRCm39) missense probably damaging 1.00
R9660:Actl6b UTSW 5 137,562,766 (GRCm39) missense probably damaging 1.00
X0065:Actl6b UTSW 5 137,563,999 (GRCm39) missense possibly damaging 0.82
Posted On 2016-08-02