Mutagenetix > Incidental Mutation

Incidental Mutation 'R6709:Actl6b'

529048

Institutional Source

Beutler Lab

Gene Symbol

Actl6b

Ensembl Gene

ENSMUSG00000029712

Gene Name

actin-like 6B

Synonyms

Baf53b, Actl6, ArpNa

MMRRC Submission

044827-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R6709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137551779-137567844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137552779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000031725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031725] [ENSMUST00000125489] [ENSMUST00000136088] [ENSMUST00000136565] [ENSMUST00000139395] [ENSMUST00000149292] [ENSMUST00000198601]

AlphaFold

Q99MR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031725
AA Change: D36G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: D36G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125489

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

possibly damaging
Transcript: ENSMUST00000139395
AA Change: D36G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: D36G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145500

Predicted Effect

probably benign
Transcript: ENSMUST00000149292

Predicted Effect

probably benign
Transcript: ENSMUST00000198601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196154

Meta Mutation Damage Score

0.5921

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (58/59)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,240,418 (GRCm39)	D223V	probably damaging	Het
Adgre1	A	T	17: 57,713,917 (GRCm39)	N201Y	probably benign	Het
Agbl4	T	A	4: 111,423,979 (GRCm39)		probably benign	Het
Atg4d	T	C	9: 21,179,944 (GRCm39)	Y272H	probably damaging	Het
Ccdc39	T	C	3: 33,884,242 (GRCm39)	T367A	possibly damaging	Het
Ceacam2	T	C	7: 25,229,262 (GRCm39)	T293A	possibly damaging	Het
Col19a1	C	T	1: 24,321,577 (GRCm39)	G977E	probably damaging	Het
Csnka2ip	A	T	16: 64,298,932 (GRCm39)	H33Q	possibly damaging	Het
Cyp3a44	A	T	5: 145,714,902 (GRCm39)		probably null	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,594,706 (GRCm39)	D3492G	probably damaging	Het
Eepd1	A	T	9: 25,394,164 (GRCm39)	T143S	probably benign	Het
Eml2	A	G	7: 18,940,136 (GRCm39)	*650W	probably null	Het
Etv1	C	T	12: 38,833,796 (GRCm39)	T19I	possibly damaging	Het
Fam133b	T	C	5: 3,619,059 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,302,345 (GRCm39)	H70R	probably benign	Het
Galnt11	C	T	5: 25,453,851 (GRCm39)	R26C	probably damaging	Het
Gm136	T	A	4: 34,755,884 (GRCm39)	Y43F	probably damaging	Het
Gm17409	A	T	2: 58,361,088 (GRCm39)		probably null	Het
Gm5591	A	G	7: 38,221,499 (GRCm39)	I190T	probably benign	Het
H1f9	T	A	11: 94,858,772 (GRCm39)	S22R	possibly damaging	Het
Htra1	C	T	7: 130,537,948 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints8	A	T	4: 11,221,117 (GRCm39)	Y753N	possibly damaging	Het
Itprid2	A	G	2: 79,475,276 (GRCm39)	T412A	probably benign	Het
L3mbtl3	G	A	10: 26,158,695 (GRCm39)	T651I	unknown	Het
Ltb4r2	A	C	14: 55,999,990 (GRCm39)	T204P	possibly damaging	Het
Ltbp3	G	A	19: 5,797,885 (GRCm39)		probably null	Het
Mlxip	A	T	5: 123,585,339 (GRCm39)	I616F	possibly damaging	Het
Mpz	A	T	1: 170,978,301 (GRCm39)		probably benign	Het
Myh11	A	G	16: 14,041,358 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,703,906 (GRCm39)	L1949P	probably damaging	Het
Olfm2	A	G	9: 20,584,009 (GRCm39)	Y116H	probably damaging	Het
Or2t47	T	C	11: 58,442,862 (GRCm39)	M68V	probably benign	Het
Or6s1	A	T	14: 51,308,286 (GRCm39)	L188H	probably damaging	Het
Pde4d	T	G	13: 110,084,813 (GRCm39)	L470R	probably damaging	Het
Plxna2	T	A	1: 194,472,074 (GRCm39)	N1013K	probably benign	Het
Ptpn13	A	C	5: 103,734,622 (GRCm39)	Q2118P	probably benign	Het
Pwwp2a	C	G	11: 43,595,554 (GRCm39)	L240V	probably damaging	Het
Reep2	T	C	18: 34,979,263 (GRCm39)	L196P	probably benign	Het
Shank1	A	T	7: 44,003,600 (GRCm39)	N1765I	probably benign	Het
Slc25a13	A	G	6: 6,073,440 (GRCm39)	S473P	possibly damaging	Het
Slc33a1	C	A	3: 63,852,122 (GRCm39)	M450I	possibly damaging	Het
Slc45a2	A	G	15: 11,001,216 (GRCm39)	Y105C	possibly damaging	Het
Slc4a11	A	T	2: 130,526,616 (GRCm39)	L812Q	probably damaging	Het
Sox6	T	C	7: 115,301,024 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,887 (GRCm39)	M528K	probably benign	Het
Syngr4	A	G	7: 45,538,122 (GRCm39)	V82A	probably benign	Het
Tmem185b	G	A	1: 119,454,604 (GRCm39)	V122I	probably benign	Het
Trdn	A	G	10: 33,340,587 (GRCm39)	D607G	probably benign	Het
Trim10	T	A	17: 37,183,262 (GRCm39)	I186N	probably damaging	Het
Trp53i11	A	T	2: 93,030,163 (GRCm39)	M157L	probably benign	Het
Ubr3	C	A	2: 69,843,436 (GRCm39)	H1559N	probably damaging	Het
Usp25	A	C	16: 76,880,820 (GRCm39)	E727A	probably benign	Het
Vmn2r42	T	A	7: 8,195,618 (GRCm39)	R509S	probably benign	Het
Vmn2r69	T	C	7: 85,061,069 (GRCm39)	N172D	probably benign	Het
Zfp14	T	C	7: 29,737,557 (GRCm39)	Y476C	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
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
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'- GTGCAATTGAACCAGGGACTAGC -3'
(R):5'- TGAGGGTCCCTTACTCATGC -3'

Sequencing Primer
(F):5'- CAGGGTAGTGCGTTCCTTTAAATCC -3'
(R):5'- ACTCATGCCATTCTTGAGGGGC -3'

Posted On

2018-07-24