Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Actc1'

159202

Institutional Source

Beutler Lab

Gene Symbol

Actc1

Ensembl Gene

ENSMUSG00000068614

Gene Name

actin, alpha, cardiac muscle 1

Synonyms

alphac-actin, Actc-1

MMRRC Submission

039517-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1463 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

113877763-113883356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113880010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 201 (S201F)

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: S201F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: S201F

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

Meta Mutation Damage Score

0.7808

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,384 (GRCm39)	I299N	probably damaging	Het
Abcc8	T	C	7: 45,803,936 (GRCm39)	T413A	probably benign	Het
Adam30	G	A	3: 98,069,841 (GRCm39)	C558Y	probably damaging	Het
Adcy4	T	A	14: 56,016,396 (GRCm39)	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,216,233 (GRCm39)	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,918,583 (GRCm39)	M117L	probably benign	Het
AI597479	T	C	1: 43,152,389 (GRCm39)	V229A	probably damaging	Het
Ascc1	T	C	10: 59,898,338 (GRCm39)	V267A	probably benign	Het
Asxl3	A	G	18: 22,649,810 (GRCm39)	S600G	possibly damaging	Het
Atg14	T	C	14: 47,786,451 (GRCm39)	I268V	probably benign	Het
Bcas1	C	T	2: 170,260,584 (GRCm39)	V32I	probably benign	Het
Cacna1c	G	T	6: 118,570,955 (GRCm39)	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,263,255 (GRCm39)	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,236,927 (GRCm39)	T240M	probably damaging	Het
Ccn4	T	A	15: 66,791,120 (GRCm39)	N307K	possibly damaging	Het
Cd163	A	G	6: 124,288,406 (GRCm39)	E279G	probably damaging	Het
Cdx2	C	T	5: 147,243,470 (GRCm39)	S108N	probably benign	Het
Cenpf	A	T	1: 189,386,936 (GRCm39)	N1781K	probably damaging	Het
Cgref1	T	A	5: 31,093,338 (GRCm39)		probably benign	Het
Clcn4	C	T	7: 7,299,763 (GRCm39)	W22*	probably null	Het
Cntn2	A	G	1: 132,448,875 (GRCm39)		probably null	Het
Cntn5	C	T	9: 9,673,801 (GRCm39)		probably null	Het
Cpeb3	A	G	19: 37,116,500 (GRCm39)	M377T	probably benign	Het
Cryge	T	A	1: 65,087,997 (GRCm39)	R135*	probably null	Het
Ctdsp2	C	A	10: 126,829,790 (GRCm39)		probably benign	Het
Ctsll3	G	A	13: 60,949,089 (GRCm39)		probably benign	Het
Cuzd1	C	A	7: 130,918,371 (GRCm39)	G189C	probably damaging	Het
Dmbt1	T	A	7: 130,711,366 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,944,615 (GRCm39)	L245F	possibly damaging	Het
Dnajc13	A	T	9: 104,056,139 (GRCm39)	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,866,324 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,743,202 (GRCm39)	H701R	probably damaging	Het
Edem3	A	G	1: 151,683,261 (GRCm39)	T646A	possibly damaging	Het
Esrra	A	C	19: 6,889,823 (GRCm39)	D160E	probably benign	Het
Fbn2	T	C	18: 58,143,452 (GRCm39)	T2868A	probably benign	Het
Galnt7	T	A	8: 58,105,892 (GRCm39)	M41L	probably benign	Het
Gbf1	T	C	19: 46,259,984 (GRCm39)		probably benign	Het
Glyat	A	G	19: 12,625,467 (GRCm39)	N63S	probably damaging	Het
Gm9376	A	T	14: 118,504,894 (GRCm39)	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,677,612 (GRCm39)	V222A	probably damaging	Het
Ifna12	T	G	4: 88,521,193 (GRCm39)	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,451,147 (GRCm39)	M501V	probably benign	Het
Itpr3	C	T	17: 27,336,128 (GRCm39)		probably benign	Het
Ivns1abp	A	G	1: 151,237,291 (GRCm39)	N527S	probably benign	Het
Kif13a	T	C	13: 47,083,088 (GRCm39)	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,172,073 (GRCm39)	*748Q	probably null	Het
Klf8	C	T	X: 152,167,677 (GRCm39)	Q241*	probably null	Het
Kras	A	T	6: 145,170,787 (GRCm39)		probably benign	Het
Lamc3	C	A	2: 31,777,423 (GRCm39)	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,377,737 (GRCm39)	H47L	probably benign	Het
Ly75	A	G	2: 60,199,101 (GRCm39)		probably null	Het
Map3k21	G	A	8: 126,668,876 (GRCm39)	G821S	probably benign	Het
Mettl14	A	G	3: 123,167,722 (GRCm39)		probably benign	Het
Mettl5	T	C	2: 69,715,590 (GRCm39)		probably benign	Het
Mier3	A	G	13: 111,848,289 (GRCm39)	D301G	probably damaging	Het
Mipep	T	C	14: 61,025,595 (GRCm39)		probably benign	Het
Mmp21	T	C	7: 133,277,588 (GRCm39)		probably null	Het
Msh4	A	G	3: 153,563,207 (GRCm39)	L723P	probably damaging	Het
Muc5b	T	C	7: 141,412,817 (GRCm39)	V1921A	unknown	Het
Myo1e	G	A	9: 70,246,038 (GRCm39)	E410K	possibly damaging	Het
Nav2	T	G	7: 49,185,710 (GRCm39)	I951S	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Or10j3	A	G	1: 173,030,934 (GRCm39)	K4E	probably benign	Het
Or2ab1	A	G	11: 58,488,947 (GRCm39)	R242G	probably damaging	Het
Or5a3	C	T	19: 12,400,252 (GRCm39)	T193I	probably benign	Het
Pacc1	T	C	1: 191,060,486 (GRCm39)		probably benign	Het
Patl2	C	T	2: 121,954,216 (GRCm39)	V452M	probably benign	Het
Pcdh18	A	G	3: 49,709,854 (GRCm39)	V487A	probably damaging	Het
Pdzph1	C	T	17: 59,239,440 (GRCm39)	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,866,302 (GRCm39)	V518M	probably damaging	Het
Plcd3	A	G	11: 102,969,199 (GRCm39)	F256S	probably damaging	Het
Proc	T	C	18: 32,266,491 (GRCm39)	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,290,874 (GRCm39)		probably null	Het
Pth2r	A	T	1: 65,402,436 (GRCm39)	R312W	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,073 (GRCm39)		probably benign	Het
Rbbp6	C	T	7: 122,591,676 (GRCm39)	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,123,164 (GRCm39)	E364G	probably damaging	Het
Rxrb	G	A	17: 34,253,134 (GRCm39)	C185Y	probably damaging	Het
Septin2	T	A	1: 93,427,037 (GRCm39)	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,104,969 (GRCm39)	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,439,099 (GRCm39)	F175S	probably benign	Het
Slc19a2	C	T	1: 164,084,766 (GRCm39)	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,872,524 (GRCm39)	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,444 (GRCm39)	E144G	probably null	Het
Sp2	A	G	11: 96,854,282 (GRCm39)		probably benign	Het
Spag9	C	T	11: 94,007,663 (GRCm39)	L1117F	probably damaging	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Syndig1l	A	T	12: 84,727,137 (GRCm39)		probably benign	Het
Sypl1	A	T	12: 33,024,332 (GRCm39)		probably benign	Het
Tmem169	T	C	1: 72,339,855 (GRCm39)	M95T	probably benign	Het
Tnfrsf17	A	G	16: 11,133,066 (GRCm39)	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,657,859 (GRCm39)		probably benign	Het
Uap1	G	C	1: 169,977,952 (GRCm39)	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,396,557 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,757,647 (GRCm39)	V1118A	probably benign	Het
Usp54	T	C	14: 20,600,258 (GRCm39)	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,094,655 (GRCm39)	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,907,994 (GRCm39)	L75F	probably benign	Het
Yes1	T	A	5: 32,809,046 (GRCm39)	S137R	probably benign	Het
Zfp804b	A	G	5: 7,229,372 (GRCm39)		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
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
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'- AATCCAGGGCGACGTAACACAG -3'
(R):5'- TGGCTGAAGCAGTGGTTCGAAG -3'

Sequencing Primer
(F):5'- GTCACGGACAATTTCACGTTCAG -3'
(R):5'- CATTGTTCTGGATTCTGGCG -3'

Posted On

2014-03-14