Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Actl6b'

34550

Institutional Source

Beutler Lab

Gene Symbol

Actl6b

Ensembl Gene

ENSMUSG00000029712

Gene Name

actin-like 6B

Synonyms

Baf53b, Actl6, ArpNa

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R0254 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

137551779-137567844 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 137552406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143702 (fasta)

Gene Model

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

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: 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

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

noncoding transcript
Transcript: ENSMUST00000145500

Predicted Effect

probably benign
Transcript: ENSMUST00000149292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196154

Predicted Effect

probably benign
Transcript: ENSMUST00000198601

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTGACCCTCTACTTCCAGAACG -3'
(R):5'- GCTAGTCCCTGGTTCAATTGCACTC -3'

Sequencing Primer
(F):5'- CTGAAGTCCAGGTGGATCTC -3'
(R):5'- GGTTCAATTGCACTCAAGGC -3'

Posted On

2013-05-09