Mutagenetix > Incidental Mutation

Incidental Mutation 'R9188:Actc1'

697493

Institutional Source

Beutler Lab

Gene Symbol

Actc1

Ensembl Gene

ENSMUSG00000068614

Gene Name

actin, alpha, cardiac muscle 1

Synonyms

alphac-actin, Actc-1

MMRRC Submission

068980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113877763-113883356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113880979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

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: D82G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: D82G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140041

Predicted Effect

probably benign
Transcript: ENSMUST00000149125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155678

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,139,230 (GRCm39)	R385L	probably benign	Het
Abca8b	A	T	11: 109,872,561 (GRCm39)	C13*	probably null	Het
Adamts1	G	A	16: 85,599,571 (GRCm39)	R10C	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arhgap23	A	G	11: 97,390,983 (GRCm39)	I4V	possibly damaging	Het
Asic2	A	G	11: 81,042,738 (GRCm39)	F185S	probably benign	Het
Asmt	G	A	X: 169,111,583 (GRCm39)	E322K	probably damaging	Het
Caprin2	T	C	6: 148,767,422 (GRCm39)	D512G	probably benign	Het
Cltc	A	C	11: 86,627,992 (GRCm39)	I52S	probably damaging	Het
Cntn2	A	G	1: 132,443,276 (GRCm39)	L1040P	probably damaging	Het
Col12a1	T	C	9: 79,509,614 (GRCm39)	T3019A	probably benign	Het
Crisp4	A	T	1: 18,192,990 (GRCm39)	C242*	probably null	Het
Crocc	G	T	4: 140,747,151 (GRCm39)	N1716K	probably benign	Het
Cstf3	A	G	2: 104,439,223 (GRCm39)	E12G	possibly damaging	Het
Dnai4	T	C	4: 102,939,332 (GRCm39)	T77A		Het
Drc3	G	T	11: 60,249,615 (GRCm39)	V45F	probably damaging	Het
Etv4	A	G	11: 101,666,202 (GRCm39)	S108P	probably damaging	Het
Exosc10	T	A	4: 148,643,017 (GRCm39)	D31E	probably damaging	Het
F11	A	T	8: 45,698,736 (GRCm39)	D469E	probably benign	Het
Fzd7	A	G	1: 59,523,797 (GRCm39)	H560R	probably benign	Het
Gabrp	A	G	11: 33,517,252 (GRCm39)	I140T	possibly damaging	Het
Get1	A	G	16: 95,955,363 (GRCm39)	D140G	probably benign	Het
Gna15	T	C	10: 81,343,798 (GRCm39)	T288A	probably benign	Het
Gucy2c	T	C	6: 136,700,756 (GRCm39)	D586G	probably benign	Het
H2-D1	T	C	17: 35,484,778 (GRCm39)	V213A	probably damaging	Het
Hsd3b1	A	T	3: 98,760,216 (GRCm39)	D258E	probably damaging	Het
Ier3	G	T	17: 36,132,779 (GRCm39)	G57W	probably damaging	Het
Ifnlr1	T	A	4: 135,426,171 (GRCm39)	C85S	probably damaging	Het
Ivd	G	T	2: 118,710,942 (GRCm39)	G384C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Jak2	A	C	19: 29,288,353 (GRCm39)	D1068A	probably damaging	Het
Klk4	T	C	7: 43,534,797 (GRCm39)	I252T	probably damaging	Het
Klra17	A	T	6: 129,808,523 (GRCm39)	C237S	probably damaging	Het
Krtap1-3	T	C	11: 99,481,887 (GRCm39)	T87A	unknown	Het
Lbhd1	A	T	19: 8,864,397 (GRCm39)		probably null	Het
Lrig3	A	G	10: 125,838,935 (GRCm39)	R481G	possibly damaging	Het
Lrrc1	T	C	9: 77,362,487 (GRCm39)	Y247C	probably benign	Het
Marchf1	T	A	8: 66,908,803 (GRCm39)	Y174*	probably null	Het
Mlxip	A	T	5: 123,583,642 (GRCm39)	T402S	probably benign	Het
Mmd2	T	C	5: 142,560,957 (GRCm39)	K93E	probably damaging	Het
Mmp27	A	G	9: 7,579,792 (GRCm39)	D422G	possibly damaging	Het
Mroh7	T	C	4: 106,566,789 (GRCm39)	I487V	probably benign	Het
Nectin2	A	G	7: 19,453,119 (GRCm39)		probably null	Het
Nfkbia	A	T	12: 55,537,258 (GRCm39)	L277H	probably damaging	Het
Or4n5	T	C	14: 50,132,366 (GRCm39)	M298V	probably benign	Het
Or52r1	T	A	7: 102,536,596 (GRCm39)	I255F	possibly damaging	Het
Otof	C	T	5: 30,534,095 (GRCm39)	V1410M	probably damaging	Het
Pcdhb11	A	G	18: 37,556,188 (GRCm39)	N506S	probably damaging	Het
Pik3c2g	A	C	6: 139,599,401 (GRCm39)	E172D	possibly damaging	Het
Plch1	T	C	3: 63,639,075 (GRCm39)	D466G	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Ppm1d	T	A	11: 85,236,747 (GRCm39)	S509T	possibly damaging	Het
Prmt7	A	G	8: 106,961,486 (GRCm39)	D133G	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rfx6	A	G	10: 51,594,263 (GRCm39)	I394M	probably benign	Het
Rgl1	G	T	1: 152,394,922 (GRCm39)	N715K	probably damaging	Het
Rnf212	G	T	5: 108,922,811 (GRCm39)	S13*	probably null	Het
Rpgrip1l	T	C	8: 92,031,638 (GRCm39)	T80A	probably damaging	Het
Rsl1	G	T	13: 67,330,185 (GRCm39)	S211I	probably benign	Het
Serpinb9d	A	G	13: 33,386,843 (GRCm39)	M304V	probably damaging	Het
Sh3rf1	G	T	8: 61,814,807 (GRCm39)		probably null	Het
Snx16	C	A	3: 10,485,835 (GRCm39)	K261N	possibly damaging	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Styxl1	T	C	5: 135,794,672 (GRCm39)		probably null	Het
Tarbp2	A	G	15: 102,430,946 (GRCm39)	D233G	probably benign	Het
Tenm4	A	T	7: 96,421,234 (GRCm39)	N633Y	probably damaging	Het
Tgs1	T	C	4: 3,585,693 (GRCm39)	L190P	probably benign	Het
Tmem87a	C	T	2: 120,233,244 (GRCm39)	G55D	probably benign	Het
Ttn	A	T	2: 76,733,468 (GRCm39)	Y4602*	probably null	Het
Unc5b	A	T	10: 60,609,550 (GRCm39)	L582Q	probably damaging	Het
Wdpcp	A	G	11: 21,610,025 (GRCm39)	D31G	probably damaging	Het
Zbtb32	C	T	7: 30,291,320 (GRCm39)		probably benign	Het
Zfp936	C	T	7: 42,839,768 (GRCm39)	L412F	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
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
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'- CATACAGAGACAGCACTGCCTG -3'
(R):5'- TTCATTGCCTCGAGAACTGG -3'

Sequencing Primer
(F):5'- AGACAGCACTGCCTGGATGG -3'
(R):5'- CATTGCCTCGAGAACTGGATATAGC -3'

Posted On

2022-02-07