Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Actc1'

732832

Institutional Source

Beutler Lab

Gene Symbol

Actc1

Ensembl Gene

ENSMUSG00000068614

Gene Name

actin, alpha, cardiac muscle 1

Synonyms

alphac-actin, Actc-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113877763-113883356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113879799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 220 (Y220C)

Ref Sequence

ENSEMBL: ENSMUSP00000087736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090269] [ENSMUST00000149125]

AlphaFold

P68033

Predicted Effect

probably damaging
Transcript: ENSMUST00000090269
AA Change: Y220C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: Y220C

Domain	Start	End	E-Value	Type
ACTIN	7	377	4.38e-238	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149125

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	C	7: 26,896,655 (GRCm39)	S73P	possibly damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Ces4a	A	G	8: 105,869,054 (GRCm39)	E163G	possibly damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gbp5	A	G	3: 142,206,366 (GRCm39)	T17A	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hcn1	GCA	GCAACA	13: 118,112,305 (GRCm39)		probably benign	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pi4k2b	T	A	5: 52,918,331 (GRCm39)	D386E	probably benign	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		Het

Other mutations in Actc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Actc1	APN	2	113,878,594 (GRCm39)	unclassified	probably benign
IGL02985:Actc1	APN	2	113,878,641 (GRCm39)	missense	probably damaging	1.00
IGL03204:Actc1	APN	2	113,880,011 (GRCm39)	missense	possibly damaging	0.57
R1201:Actc1	UTSW	2	113,879,994 (GRCm39)	critical splice donor site	probably null
R1463:Actc1	UTSW	2	113,880,010 (GRCm39)	missense	probably damaging	1.00
R4255:Actc1	UTSW	2	113,879,697 (GRCm39)	missense	probably benign	0.02
R4476:Actc1	UTSW	2	113,879,707 (GRCm39)	missense	probably benign
R4581:Actc1	UTSW	2	113,880,089 (GRCm39)	missense	possibly damaging	0.88
R5466:Actc1	UTSW	2	113,880,979 (GRCm39)	missense	probably damaging	0.99
R6395:Actc1	UTSW	2	113,879,731 (GRCm39)	nonsense	probably null
R7915:Actc1	UTSW	2	113,880,967 (GRCm39)	missense	probably damaging	1.00
R8927:Actc1	UTSW	2	113,880,881 (GRCm39)	nonsense	probably null
R8928:Actc1	UTSW	2	113,880,881 (GRCm39)	nonsense	probably null
R9128:Actc1	UTSW	2	113,880,946 (GRCm39)	missense	possibly damaging	0.60
R9182:Actc1	UTSW	2	113,882,494 (GRCm39)	missense	probably benign
R9188:Actc1	UTSW	2	113,880,979 (GRCm39)	missense	probably damaging	0.99
R9224:Actc1	UTSW	2	113,879,710 (GRCm39)	frame shift	probably null
R9274:Actc1	UTSW	2	113,879,752 (GRCm39)	missense	probably benign
R9677:Actc1	UTSW	2	113,878,636 (GRCm39)	missense	probably benign	0.01
Z1176:Actc1	UTSW	2	113,882,478 (GRCm39)	missense	probably benign	0.00
Z1177:Actc1	UTSW	2	113,877,994 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGCTCAGCACCAAAAG -3'
(R):5'- ATGAAGATCCTCACTGAGCGC -3'

Sequencing Primer
(F):5'- GCCATCCCTTACCAATGAAAGAGG -3'
(R):5'- GGTACTCCTTTGTCACCACTGGTAAG -3'

Posted On

2022-11-14