Mutagenetix > Incidental Mutation

Incidental Mutation 'R7915:Actc1'

647990

Institutional Source

Beutler Lab

Gene Symbol

Actc1

Ensembl Gene

ENSMUSG00000068614

Gene Name

actin, alpha, cardiac muscle 1

Synonyms

alphac-actin, Actc-1

MMRRC Submission

045963-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113877763-113883356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113880967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 86 (K86M)

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: K86M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: K86M

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (66/68)

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
Abca17	T	G	17: 24,484,507 (GRCm39)	H1585P	probably damaging	Het
Acaca	A	T	11: 84,167,414 (GRCm39)	T1063S	probably benign	Het
Amz1	A	G	5: 140,727,190 (GRCm39)	N51S	probably benign	Het
Arhgap33	G	A	7: 30,222,648 (GRCm39)	P1095S	probably benign	Het
Bicra	T	C	7: 15,722,447 (GRCm39)	T357A	probably benign	Het
C130032M10Rik	A	G	9: 114,345,123 (GRCm39)	R120G	unknown	Het
Cadps	A	G	14: 12,705,544 (GRCm38)	F284L	possibly damaging	Het
Ccdc83	G	A	7: 89,893,290 (GRCm39)	Q156*	probably null	Het
Cdh20	T	A	1: 104,861,898 (GRCm39)	M26K	probably benign	Het
Cdh23	A	G	10: 60,143,668 (GRCm39)	L2979P	probably damaging	Het
Cdhr17	A	G	5: 17,032,012 (GRCm39)	N556D	probably benign	Het
Crocc2	T	C	1: 93,141,363 (GRCm39)	L1172P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,628 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,479,621 (GRCm39)		probably benign	Het
Dgcr2	A	G	16: 17,677,266 (GRCm39)		probably null	Het
Dio3	A	G	12: 110,246,473 (GRCm39)	M270V		Het
Dll1	C	A	17: 15,588,690 (GRCm39)	D662Y	probably damaging	Het
Drd1	G	T	13: 54,207,834 (GRCm39)	P127T	probably damaging	Het
Evc2	T	C	5: 37,544,206 (GRCm39)	S652P	probably damaging	Het
Fam149a	C	A	8: 45,794,280 (GRCm39)	M708I	probably benign	Het
Fam89a	T	C	8: 125,467,895 (GRCm39)	E139G	probably damaging	Het
Gpr141	T	C	13: 19,936,729 (GRCm39)	I15M	probably benign	Het
Hcn4	G	A	9: 58,731,218 (GRCm39)	E142K	unknown	Het
Hivep3	T	A	4: 119,954,962 (GRCm39)	S1093T	possibly damaging	Het
Inpp5f	C	A	7: 128,269,433 (GRCm39)	T261K	probably benign	Het
Ints3	A	T	3: 90,340,132 (GRCm39)	D42E	probably benign	Het
Krt90	A	T	15: 101,466,838 (GRCm39)		probably null	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrig1	C	A	6: 94,607,082 (GRCm39)		probably null	Het
Mapk14	A	G	17: 28,947,928 (GRCm39)	T221A	probably benign	Het
Megf10	A	T	18: 57,373,807 (GRCm39)	T202S	probably benign	Het
Neo1	A	T	9: 58,838,264 (GRCm39)	F507I	probably benign	Het
Or7a35	A	G	10: 78,853,264 (GRCm39)	Y36C	probably damaging	Het
Or8b48	A	T	9: 38,492,969 (GRCm39)	Y132F	probably damaging	Het
Or8k37	T	A	2: 86,469,110 (GRCm39)	*314L	probably null	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,811,630 (GRCm39)	Y3724*	probably null	Het
Plxnd1	T	C	6: 115,943,879 (GRCm39)	D1140G	probably benign	Het
Pramel22	T	C	4: 143,382,315 (GRCm39)	K127R	possibly damaging	Het
Prex1	A	G	2: 166,463,112 (GRCm39)	S250P	probably damaging	Het
Prom1	A	T	5: 44,162,277 (GRCm39)	M777K	possibly damaging	Het
Prrc2c	A	C	1: 162,519,977 (GRCm39)	S2125A	probably benign	Het
Ptpn12	A	G	5: 21,214,449 (GRCm39)	I229T	probably damaging	Het
Ranbp6	A	G	19: 29,790,073 (GRCm39)	V93A	probably benign	Het
Rtn3	A	G	19: 7,434,865 (GRCm39)	C376R	probably benign	Het
Sis	A	C	3: 72,828,471 (GRCm39)	H1201Q	probably damaging	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slc3a2	G	A	19: 8,685,182 (GRCm39)	R535W	probably damaging	Het
Slc5a2	T	A	7: 127,864,966 (GRCm39)	L33Q	probably damaging	Het
Sltm	G	T	9: 70,494,431 (GRCm39)	R927L	probably damaging	Het
Spaca7b	T	C	8: 11,728,645 (GRCm39)	T9A	possibly damaging	Het
Stat1	A	G	1: 52,190,440 (GRCm39)	D565G	probably benign	Het
Terb1	T	C	8: 105,173,848 (GRCm39)	K745R	possibly damaging	Het
Tescl	T	C	7: 24,033,113 (GRCm39)	I71V	probably damaging	Het
Tgm1	T	C	14: 55,937,883 (GRCm39)	D742G	probably damaging	Het
Tmem128	T	A	5: 38,423,875 (GRCm39)	W30R	probably benign	Het
Tox	T	A	4: 6,822,949 (GRCm39)	M123L	probably benign	Het
Tsnaxip1	A	G	8: 106,569,413 (GRCm39)	S547G	possibly damaging	Het
Ttn	T	A	2: 76,567,539 (GRCm39)	K27785*	probably null	Het
Tut7	T	C	13: 59,932,628 (GRCm39)	I1345V	probably benign	Het
Usp38	A	C	8: 81,727,712 (GRCm39)	S340R	probably damaging	Het
Utrn	A	T	10: 12,340,956 (GRCm39)	H2840Q	probably damaging	Het
Vars2	T	C	17: 35,975,731 (GRCm39)	I229V	probably damaging	Het
Vmn1r16	A	T	6: 57,300,380 (GRCm39)	Y81N	probably damaging	Het
Vmn2r98	A	T	17: 19,287,493 (GRCm39)	D442V	probably benign	Het
Vps13d	T	C	4: 144,813,389 (GRCm39)	I3296V		Het
Wwtr1	A	G	3: 57,483,020 (GRCm39)		probably null	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
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
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

2020-09-15