Mutagenetix > Incidental Mutation

Incidental Mutation 'R9150:Actl6b'

694960

Institutional Source

Beutler Lab

Gene Symbol

Actl6b

Ensembl Gene

ENSMUSG00000029712

Gene Name

actin-like 6B

Synonyms

Baf53b, Actl6, ArpNa

MMRRC Submission

068938-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R9150 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

137551779-137567844 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTCCGGTGAGTGCCTCATCC to CTCC at 137553354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119356 (fasta)

Gene Model

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

AlphaFold

Q99MR0

Predicted Effect

probably null
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 null
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 null
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: ENSMUST00000149292

Predicted Effect

probably benign
Transcript: ENSMUST00000198601

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (56/57)

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
Ampd1	A	T	3: 102,988,359 (GRCm39)	I101F	possibly damaging	Het
Arhgap11a	A	G	2: 113,673,614 (GRCm39)	V92A	possibly damaging	Het
Arih1	C	A	9: 59,344,069 (GRCm39)	L189F	possibly damaging	Het
B4galt3	A	G	1: 171,103,899 (GRCm39)	R379G	probably benign	Het
Capn12	A	G	7: 28,590,378 (GRCm39)	N642D	probably benign	Het
Cdc42ep3	T	C	17: 79,642,299 (GRCm39)	H207R	probably benign	Het
Dcps	A	T	9: 35,035,938 (GRCm39)	L316H	probably damaging	Het
Dmgdh	A	G	13: 93,825,103 (GRCm39)	Y142C	probably damaging	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml6	A	T	11: 29,755,791 (GRCm39)	V821E	probably benign	Het
Fam181a	A	T	12: 103,282,139 (GRCm39)	N15Y	probably damaging	Het
Gm26657	G	T	4: 56,740,835 (GRCm39)	E7*	probably null	Het
Gm8267	A	T	14: 44,955,362 (GRCm39)	S220T	probably benign	Het
Gpld1	A	T	13: 25,146,305 (GRCm39)	Y183F	probably damaging	Het
Gpr158	G	A	2: 21,831,251 (GRCm39)	G784R	probably benign	Het
Grm2	A	G	9: 106,524,657 (GRCm39)	L215P		Het
Gtpbp1	A	G	15: 79,592,165 (GRCm39)	D252G	probably damaging	Het
Heatr5b	A	G	17: 79,103,448 (GRCm39)	V1135A	probably benign	Het
Irag1	T	C	7: 110,498,205 (GRCm39)	T397A	probably benign	Het
Lrrc8e	A	C	8: 4,286,030 (GRCm39)	K752Q	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapre2	A	G	18: 23,991,208 (GRCm39)	T201A	probably benign	Het
Mcm9	A	T	10: 53,502,110 (GRCm39)	N85K		Het
Mdga1	T	C	17: 30,057,420 (GRCm39)	T92A	probably damaging	Het
Nemf	A	C	12: 69,387,820 (GRCm39)	D421E	probably benign	Het
Oga	A	T	19: 45,771,421 (GRCm39)	V50E	probably benign	Het
Or13g1	G	C	7: 85,955,942 (GRCm39)	F126L	probably damaging	Het
Or5k14	G	T	16: 58,693,005 (GRCm39)	C169*	probably null	Het
Or5m3	A	T	2: 85,838,626 (GRCm39)	K169*	probably null	Het
Or8k53	A	T	2: 86,177,336 (GRCm39)	M258K	probably damaging	Het
Pcdhga5	A	C	18: 37,827,933 (GRCm39)	N127T	probably damaging	Het
Phyhipl	A	T	10: 70,404,887 (GRCm39)	V107E	probably damaging	Het
Pkd1l1	G	A	11: 8,786,256 (GRCm39)	R2383C		Het
Ppp1r16a	G	A	15: 76,575,054 (GRCm39)		probably benign	Het
Pramel20	A	G	4: 143,298,531 (GRCm39)	Y158C	probably benign	Het
Rnf41	T	C	10: 128,272,399 (GRCm39)	V142A		Het
Sgcd	C	T	11: 46,870,170 (GRCm39)	V264I	probably damaging	Het
Six2	A	G	17: 85,992,763 (GRCm39)	S247P	probably benign	Het
Slc17a7	T	G	7: 44,820,167 (GRCm39)	Y241D	probably damaging	Het
Slc30a5	T	A	13: 100,939,915 (GRCm39)	K724*	probably null	Het
Slitrk1	T	A	14: 109,149,101 (GRCm39)	I537F	possibly damaging	Het
Sp140l2	T	A	1: 85,091,359 (GRCm39)	Q33L	probably damaging	Het
Spen	C	T	4: 141,244,468 (GRCm39)	R189Q	unknown	Het
Srd5a3	T	A	5: 76,297,615 (GRCm39)	L139Q	probably damaging	Het
Tgfbrap1	A	T	1: 43,114,985 (GRCm39)	Y38*	probably null	Het
Tln2	A	T	9: 67,128,778 (GRCm39)	M1437K	probably damaging	Het
Tmem87b	T	C	2: 128,687,401 (GRCm39)	I467T	probably damaging	Het
Tnfrsf21	T	A	17: 43,398,691 (GRCm39)	I599N	probably damaging	Het
Trmt112	T	A	19: 6,887,620 (GRCm39)	L23Q	probably damaging	Het
Tsc22d1	T	A	14: 76,654,056 (GRCm39)	N178K	probably damaging	Het
Ttc23	A	G	7: 67,375,850 (GRCm39)	Y476C	probably damaging	Het
Twf1	A	T	15: 94,484,274 (GRCm39)	W83R	probably damaging	Het
Vmn2r14	T	A	5: 109,367,783 (GRCm39)	H403L	probably damaging	Het
Wiz	A	T	17: 32,586,809 (GRCm39)	I167N	probably benign	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	probably benign	Het
Zfp618	C	T	4: 63,039,603 (GRCm39)	Q401*	probably null	Het
Zfp715	T	A	7: 42,948,713 (GRCm39)	I416F	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
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
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'- AGTTGGACTCACCTACCTTCAG -3'
(R):5'- CTGAAATCCTAGCATGAAATGATCC -3'

Sequencing Primer
(F):5'- GGACTCACCTACCTTCAGACTTGG -3'
(R):5'- AGAACCTTTTGCATGCCAGG -3'

Posted On

2022-01-20