Mutagenetix > Incidental Mutation

Incidental Mutation 'R9274:Actc1'

703142

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 #

R9274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113877763-113883356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113879752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 236 (S236T)

Ref Sequence

ENSEMBL: ENSMUSP00000087736 (fasta)

Gene Model

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

AlphaFold

P68033

Predicted Effect

probably benign
Transcript: ENSMUST00000090269
AA Change: S236T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: S236T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149125

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,069,267 (GRCm39)	T239A	probably benign	Het
Aoc1l2	T	C	6: 48,907,341 (GRCm39)	F114L	possibly damaging	Het
Ascl2	G	A	7: 142,521,753 (GRCm39)	R232C	probably damaging	Het
Atp10a	C	A	7: 58,478,369 (GRCm39)	Q1471K	probably benign	Het
Avl9	T	A	6: 56,720,346 (GRCm39)	D461E	probably damaging	Het
Baiap3	T	A	17: 25,463,354 (GRCm39)	Y983F	probably damaging	Het
C1rl	A	G	6: 124,485,483 (GRCm39)	S285G	probably benign	Het
Cacna1i	G	A	15: 80,254,354 (GRCm39)	V772M	probably damaging	Het
Ccser2	T	A	14: 36,660,737 (GRCm39)	D472V	possibly damaging	Het
Cd244a	T	G	1: 171,401,928 (GRCm39)	V218G	probably benign	Het
Cdhr1	T	C	14: 36,802,564 (GRCm39)	K633R	probably benign	Het
Col14a1	A	G	15: 55,381,671 (GRCm39)	Q1748R	probably damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Crnkl1	A	T	2: 145,765,836 (GRCm39)	F411L	probably damaging	Het
Crp	T	A	1: 172,526,072 (GRCm39)	F52L	possibly damaging	Het
Dnah12	A	G	14: 26,537,374 (GRCm39)	N2208D	probably benign	Het
Exd2	T	C	12: 80,539,674 (GRCm39)		probably null	Het
F13a1	A	T	13: 37,052,761 (GRCm39)	I726N	probably damaging	Het
Fmo6	G	A	1: 162,747,921 (GRCm39)	T381I	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gm12790	T	A	4: 101,824,743 (GRCm39)	D175V	possibly damaging	Het
Gm3543	T	C	14: 41,802,125 (GRCm39)	R120G	probably damaging	Het
Gpatch2	T	A	1: 186,963,029 (GRCm39)	D273E	probably damaging	Het
Hlcs	A	G	16: 94,088,785 (GRCm39)	S66P	possibly damaging	Het
Hmcn1	T	C	1: 150,506,046 (GRCm39)	T3827A	probably benign	Het
Ism2	G	A	12: 87,331,827 (GRCm39)	Q237*	probably null	Het
Jph2	G	A	2: 163,239,547 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,781,723 (GRCm39)	Q865R	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnk9	A	G	15: 72,384,224 (GRCm39)	V318A	unknown	Het
Lemd3	G	A	10: 120,814,717 (GRCm39)	A172V	possibly damaging	Het
Lifr	G	T	15: 7,217,591 (GRCm39)	A840S	probably damaging	Het
Lnpep	T	C	17: 17,758,837 (GRCm39)	T836A	probably benign	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Mdm2	G	A	10: 117,541,081 (GRCm39)		probably benign	Het
Msmb	T	C	14: 31,870,130 (GRCm39)	M34T	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	A	18: 44,479,265 (GRCm39)	V334E	probably damaging	Het
Nalcn	A	G	14: 123,753,068 (GRCm39)	I306T	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,640,056 (GRCm39)	Y981H	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nsa2	C	T	13: 97,272,170 (GRCm39)	R17H	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Obox6	T	C	7: 15,567,766 (GRCm39)	H227R	possibly damaging	Het
Or10ak14	G	A	4: 118,610,883 (GRCm39)	A286V	probably benign	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or4c1	A	C	2: 89,133,513 (GRCm39)	L141R	probably damaging	Het
P2rx2	C	T	5: 110,489,709 (GRCm39)	G202D	probably damaging	Het
Pcdh12	A	G	18: 38,415,950 (GRCm39)	W392R	probably damaging	Het
Plxna2	G	A	1: 194,471,136 (GRCm39)	G969D	probably damaging	Het
Prg4	T	C	1: 150,331,924 (GRCm39)	T250A	possibly damaging	Het
Rad54l	G	T	4: 115,967,667 (GRCm39)	P205Q	probably damaging	Het
Ralgapb	A	G	2: 158,278,539 (GRCm39)	I334M	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Rnf10	A	T	5: 115,385,322 (GRCm39)	Y557*	probably null	Het
Ruvbl1	A	G	6: 88,474,334 (GRCm39)	I446V	probably benign	Het
Serinc3	A	T	2: 163,468,371 (GRCm39)	V361D	probably damaging	Het
Slc4a1	C	A	11: 102,242,047 (GRCm39)	V864L	probably benign	Het
Slf1	C	A	13: 77,191,669 (GRCm39)	*1055L	probably null	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Stpg1	T	C	4: 135,252,782 (GRCm39)	F178L	possibly damaging	Het
Tmem25	C	T	9: 44,706,336 (GRCm39)	R345H	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Tubg1	A	G	11: 101,017,241 (GRCm39)		probably benign	Het
Uchl3	A	G	14: 101,903,240 (GRCm39)	D33G	probably damaging	Het
Vmn1r152	A	T	7: 22,223,056 (GRCm39)	H222L	probably benign	Het
Zfp975	C	T	7: 42,312,299 (GRCm39)	V105I	probably benign	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
R9677:Actc1	UTSW	2	113,878,636 (GRCm39)	missense	probably benign	0.01
R9758:Actc1	UTSW	2	113,879,799 (GRCm39)	missense	probably damaging	1.00
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'- ATGGCAGATGCTGACTCGAG -3'
(R):5'- CAGCATATGCCTGTTGCTTTTG -3'

Sequencing Primer
(F):5'- CCTGCCATGCTTCTAAGTGAAATGG -3'
(R):5'- GCTTCATTGGTAGATAGACCTACTTC -3'

Posted On

2022-03-25