Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Actl6b'

46449

Institutional Source

Beutler Lab

Gene Symbol

Actl6b

Ensembl Gene

ENSMUSG00000029712

Gene Name

actin-like 6B

Synonyms

Baf53b, Actl6, ArpNa

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137551779-137567844 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 137565046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000031729] [ENSMUST00000136088] [ENSMUST00000136565] [ENSMUST00000139395] [ENSMUST00000196471] [ENSMUST00000198601] [ENSMUST00000198783] [ENSMUST00000199054] [ENSMUST00000198866]

AlphaFold

Q99MR0

Predicted Effect

probably benign
Transcript: ENSMUST00000031725

SMART Domains

Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712

Domain	Start	End	E-Value	Type
ACTIN	11	379	4.16e-116	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031729

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Actin	1	75	4.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136565

SMART Domains

Protein: ENSMUSP00000117425
Gene: ENSMUSG00000029712

Domain	Start	End	E-Value	Type
Pfam:Actin	1	116	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139395

SMART Domains

Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712

Domain	Start	End	E-Value	Type
ACTIN	11	426	5.96e-167	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196471

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716

Domain	Start	End	E-Value	Type
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: ENSMUST00000198601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200190

Predicted Effect

probably benign
Transcript: ENSMUST00000198783

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000198866

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	Het

Other mutations in Actl6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Actl6b	APN	5	137,552,899 (GRCm39)	missense	probably damaging	0.99
IGL03271:Actl6b	APN	5	137,564,246 (GRCm39)	missense	probably damaging	1.00
R0128:Actl6b	UTSW	5	137,553,327 (GRCm39)	missense	probably benign
R0254:Actl6b	UTSW	5	137,552,406 (GRCm39)	intron	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

Predicted Primers

PCR Primer
(F):5'- GCCCACTGTGCATTATGAAATGCC -3'
(R):5'- ACACTGCCATAGAGACCCTGAGAG -3'

Sequencing Primer
(F):5'- TGAGCGACTTCGAATCCCTG -3'
(R):5'- CAGGGAGAAGCGTCAACC -3'

Posted On

2013-06-11