Incidental Mutation 'R7982:Actl6b'
ID651259
Institutional Source Beutler Lab
Gene Symbol Actl6b
Ensembl Gene ENSMUSG00000029712
Gene Nameactin-like 6B
SynonymsActl6, ArpNa, Baf53b
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock #R7982 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location137553517-137569582 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137563162 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 142 (N142S)
Ref Sequence ENSEMBL: ENSMUSP00000119356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000136088] [ENSMUST00000136565] [ENSMUST00000139395] [ENSMUST00000198601]
Predicted Effect probably benign
Transcript: ENSMUST00000031725
AA Change: N142S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: N142S

DomainStartEndE-ValueType
ACTIN 11 379 4.16e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136088
AA Change: N61S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000117138
Gene: ENSMUSG00000029712
AA Change: N61S

DomainStartEndE-ValueType
Pfam:Actin 1 75 4.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136565
AA Change: N6S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000117425
Gene: ENSMUSG00000029712
AA Change: N6S

DomainStartEndE-ValueType
Pfam:Actin 1 116 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139395
AA Change: N142S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: N142S

DomainStartEndE-ValueType
ACTIN 11 426 5.96e-167 SMART
Predicted Effect silent
Transcript: ENSMUST00000198601
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,173,640 S625P probably damaging Het
Ank1 A T 8: 23,119,381 D1363V probably damaging Het
Aox4 A C 1: 58,257,241 L1032F possibly damaging Het
Bcl2l15 T C 3: 103,832,842 M4T probably damaging Het
Cand1 A T 10: 119,216,473 S242R probably damaging Het
Cant1 A T 11: 118,410,142 V229D probably benign Het
Ccdc117 A G 11: 5,531,460 S224P possibly damaging Het
Cdc42ep4 T C 11: 113,728,576 R330G possibly damaging Het
Cep164 T C 9: 45,778,864 E527G probably benign Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Cln6 A C 9: 62,849,168 K198T possibly damaging Het
Col4a4 G A 1: 82,571,441 probably benign Het
Cyp1b1 T C 17: 79,710,490 Y412C probably damaging Het
Dhx30 A T 9: 110,085,456 L991Q probably damaging Het
Dst C T 1: 34,182,540 T2475I possibly damaging Het
Exoc8 A T 8: 124,896,410 V406E probably damaging Het
Fam214b T C 4: 43,034,483 T371A probably damaging Het
Grk6 T A 13: 55,451,706 C201S probably damaging Het
Helz T C 11: 107,626,630 V664A possibly damaging Het
Hsd17b11 A G 5: 104,003,224 C215R possibly damaging Het
Hspb11 T C 4: 107,275,283 V89A probably benign Het
Kbtbd12 T C 6: 88,618,634 I71M possibly damaging Het
Khdc1a A T 1: 21,350,906 H105L probably benign Het
Klf6 T A 13: 5,861,823 L62Q probably damaging Het
Mc1r A G 8: 123,408,140 R211G probably damaging Het
Nt5m T A 11: 59,848,331 W68R possibly damaging Het
Nufip1 T C 14: 76,126,239 V301A probably benign Het
Olfr104-ps T G 17: 37,362,611 F165V probably damaging Het
Olfr1535 T C 13: 21,555,966 N19D probably benign Het
Olfr209 A G 16: 59,361,564 I218T probably benign Het
Olfr455 T A 6: 42,538,291 T244S probably damaging Het
Olfr561 A T 7: 102,775,103 D193V probably damaging Het
Ostn T C 16: 27,321,439 probably null Het
Pcdhb6 C T 18: 37,334,220 R65* probably null Het
Pds5b T C 5: 150,769,941 I706T probably damaging Het
Pgm1 T G 5: 64,100,959 Y96D probably damaging Het
Pkd1l2 G A 8: 117,051,187 T875I possibly damaging Het
Poc1b A G 10: 99,164,902 S355G probably benign Het
Ppp6r1 A C 7: 4,643,158 D181E probably benign Het
Pstpip2 G A 18: 77,879,373 V325M probably benign Het
Rras2 A T 7: 114,058,951 V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,669,249 probably benign Het
Stac2 T A 11: 98,042,553 M188L probably benign Het
Synrg G A 11: 84,019,818 D859N probably damaging Het
Tarbp1 A T 8: 126,444,301 S987T probably damaging Het
Tbx20 C A 9: 24,773,924 probably benign Het
Trim30d G T 7: 104,472,610 N309K possibly damaging Het
Ttc16 C T 2: 32,775,035 probably benign Het
Ttc34 T A 4: 154,861,418 I303N possibly damaging Het
Ubr4 T C 4: 139,428,208 probably null Het
Uros A T 7: 133,692,549 S168T unknown Het
Vmn2r6 C T 3: 64,559,820 G86D probably damaging Het
Ybx2 C T 11: 69,940,622 T295I possibly damaging Het
Zbed5 T A 5: 129,900,480 C146S possibly damaging Het
Zcchc2 G A 1: 106,031,171 C1124Y probably damaging Het
Zfp626 G A 7: 27,810,750 probably null Het
Other mutations in Actl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Actl6b APN 5 137554637 missense probably damaging 0.99
IGL03271:Actl6b APN 5 137565984 missense probably damaging 1.00
R0128:Actl6b UTSW 5 137555065 missense probably benign
R0254:Actl6b UTSW 5 137554144 intron probably benign
R0571:Actl6b UTSW 5 137566784 unclassified probably benign
R1438:Actl6b UTSW 5 137554609 missense probably damaging 0.99
R1530:Actl6b UTSW 5 137569378 missense probably damaging 1.00
R1621:Actl6b UTSW 5 137565779 missense probably benign 0.18
R2008:Actl6b UTSW 5 137569330 missense probably damaging 1.00
R2907:Actl6b UTSW 5 137567297 missense probably damaging 1.00
R3826:Actl6b UTSW 5 137567273 missense probably damaging 0.99
R5326:Actl6b UTSW 5 137567051 missense probably damaging 1.00
R5763:Actl6b UTSW 5 137566801 missense possibly damaging 0.49
R5906:Actl6b UTSW 5 137567329 missense possibly damaging 0.95
R5972:Actl6b UTSW 5 137566556 missense possibly damaging 0.55
R6709:Actl6b UTSW 5 137554517 missense possibly damaging 0.91
R7134:Actl6b UTSW 5 137564500 missense probably damaging 0.96
R7249:Actl6b UTSW 5 137555085 missense probably damaging 0.99
R8691:Actl6b UTSW 5 137567323 missense probably damaging 1.00
R8805:Actl6b UTSW 5 137554656 missense probably benign
R8831:Actl6b UTSW 5 137567043 missense probably damaging 0.99
X0065:Actl6b UTSW 5 137565737 missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCCTAAGAGCGTATTTGTTCTGAG -3'
(R):5'- GCTGAGACTGACCCATAAACTAAG -3'

Sequencing Primer
(F):5'- AGTATGGACAAATGTGTGTGTGCAC -3'
(R):5'- CTATGGGGCCTTCTGCACTAG -3'
Posted On2020-09-15