Mutagenetix > Incidental Mutation

Incidental Mutation 'R5326:Actl6b'

421949

Institutional Source

Beutler Lab

Gene Symbol

Actl6b

Ensembl Gene

ENSMUSG00000029712

Gene Name

actin-like 6B

Synonyms

Baf53b, Actl6, ArpNa

MMRRC Submission

042909-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R5326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137551779-137567844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137565313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 366 (S366P)

Ref Sequence

ENSEMBL: ENSMUSP00000031725 (fasta)

Gene Model

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

AlphaFold

Q99MR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031725
AA Change: S366P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: S366P

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 damaging
Transcript: ENSMUST00000139395
AA Change: S366P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: S366P

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: ENSMUST00000200190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199957

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,336 (GRCm39)	T127A	probably damaging	Het
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Adgrf5	T	A	17: 43,750,965 (GRCm39)	I510N	probably damaging	Het
Adra2a	A	G	19: 54,035,112 (GRCm39)	Y156C	probably damaging	Het
Angpt4	T	C	2: 151,767,464 (GRCm39)		probably null	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Brd3	A	G	2: 27,340,556 (GRCm39)	L551P	probably benign	Het
Calb2	C	T	8: 110,883,610 (GRCm39)	G38D	possibly damaging	Het
Cand1	G	A	10: 119,047,933 (GRCm39)	A519V	probably benign	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Cog6	T	A	3: 52,921,237 (GRCm39)	Q123L	probably null	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Depdc1a	T	C	3: 159,232,286 (GRCm39)	V679A	probably damaging	Het
Dyrk1a	A	G	16: 94,487,440 (GRCm39)	D512G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Frs2	T	C	10: 116,913,468 (GRCm39)	S121G	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Ggt1	T	C	10: 75,421,540 (GRCm39)		probably null	Het
Gigyf2	T	C	1: 87,352,860 (GRCm39)		probably benign	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm9476	T	A	10: 100,142,996 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,703,127 (GRCm39)	N102K	possibly damaging	Het
Gml	T	C	15: 74,688,299 (GRCm39)	N56S	probably damaging	Het
Gpam	A	C	19: 55,079,597 (GRCm39)	S128R	probably benign	Het
Gucy1b2	C	T	14: 62,690,779 (GRCm39)		probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hmx3	C	T	7: 131,146,146 (GRCm39)	Q285*	probably null	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighv5-17	T	C	12: 113,822,878 (GRCm39)	D81G	possibly damaging	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Iqcd	A	G	5: 120,740,440 (GRCm39)	Q257R	probably damaging	Het
Itpk1	T	C	12: 102,540,225 (GRCm39)	N286S	possibly damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Knop1	T	C	7: 118,452,495 (GRCm39)	K23E	possibly damaging	Het
Ksr2	T	A	5: 117,846,305 (GRCm39)	V724E	probably damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,355,907 (GRCm39)	T622S	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtmr2	A	G	9: 13,699,943 (GRCm39)	Y38C	probably damaging	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nadsyn1	T	A	7: 143,362,567 (GRCm39)	R279W	probably benign	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56b35	T	A	7: 104,963,646 (GRCm39)	F145Y	probably damaging	Het
Or7a38	G	A	10: 78,753,420 (GRCm39)	V249I	possibly damaging	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Prkar1b	T	C	5: 139,113,544 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,828,076 (GRCm39)	Y467H	probably damaging	Het
Rin1	A	G	19: 5,102,652 (GRCm39)	E387G	probably damaging	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Seh1l	C	T	18: 67,908,069 (GRCm39)		probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Snrnp70	GCGGTCCCGGTCCCGGTC	GCGGTCCCGGTC	7: 45,026,657 (GRCm39)		probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Spin1	A	G	13: 51,293,563 (GRCm39)	Y91C	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trim30c	T	A	7: 104,037,511 (GRCm39)	M152L	possibly damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Wdr11	T	C	7: 129,226,973 (GRCm39)	S812P	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zdbf2	T	G	1: 63,343,570 (GRCm39)	C650G	possibly damaging	Het
Zfp282	T	A	6: 47,882,261 (GRCm39)	N649K	probably benign	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
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'- TTGACATTCGCCCGGTAAG -3'
(R):5'- GCTTAAGACGCATGCTCTGG -3'

Sequencing Primer
(F):5'- CCGGTAAGGCCAGATCCTAAG -3'
(R):5'- CTGGGGAGTGGACATCTAGATTC -3'

Posted On

2016-08-04