Mutagenetix > Incidental Mutation

Incidental Mutation 'R6660:Actg1'

526813

Institutional Source

Beutler Lab

Gene Symbol

Actg1

Ensembl Gene

ENSMUSG00000062825

Gene Name

actin, gamma, cytoplasmic 1

Synonyms

E51, Actl

MMRRC Submission

044780-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6660 (G1)

Quality Score

212.009

Status

Not validated

Chromosome

Chromosomal Location

120236513-120239321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120237581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 289 (I289N)

Ref Sequence

ENSEMBL: ENSMUSP00000101822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062147] [ENSMUST00000071555] [ENSMUST00000089616] [ENSMUST00000106215] [ENSMUST00000128055] [ENSMUST00000131103]

AlphaFold

P63260

Predicted Effect

probably damaging
Transcript: ENSMUST00000062147
AA Change: I67N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101821
Gene: ENSMUSG00000062825
AA Change: I67N

Domain	Start	End	E-Value	Type
ACTIN	5	153	1.43e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000071555
AA Change: I289N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: I289N

Domain	Start	End	E-Value	Type
ACTIN	5	375	2.96e-244	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089616
AA Change: I44N

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

SMART Domains

Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825
AA Change: I44N

Domain	Start	End	E-Value	Type
Pfam:Actin	1	84	3.8e-32	PFAM
Pfam:Actin	78	105	1.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106215
AA Change: I289N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: I289N

Domain	Start	End	E-Value	Type
ACTIN	5	375	2.96e-244	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128055

SMART Domains

Protein: ENSMUSP00000134296
Gene: ENSMUSG00000062825

Domain	Start	End	E-Value	Type
ACTIN	62	268	6.73e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131103

SMART Domains

Protein: ENSMUSP00000134070
Gene: ENSMUSG00000062825

Domain	Start	End	E-Value	Type
Pfam:Actin	2	124	1.1e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144868

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta, and gamma, have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice in which this gene has been conditionally disrupted in muscle tissue display a reduced mobility and classical hind limb contractures when suspended by the tail. Mice homozygous for a null allele exhibit prenatal lethality, premature death, and progressive hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg5	A	G	10: 44,170,651 (GRCm39)	N99S	probably benign	Het
Ccdc88a	A	G	11: 29,432,663 (GRCm39)	Q1223R	probably benign	Het
Cdc42	T	C	4: 137,056,145 (GRCm39)	D122G	probably benign	Het
Cpxm1	A	G	2: 130,238,069 (GRCm39)	S127P	probably damaging	Het
Cyfip2	A	G	11: 46,140,634 (GRCm39)	C730R	possibly damaging	Het
Ddx60	T	A	8: 62,409,273 (GRCm39)	H436Q	probably benign	Het
Dnah17	T	C	11: 117,991,014 (GRCm39)	Y1236C	probably benign	Het
Ep400	G	A	5: 110,867,313 (GRCm39)	R1000*	probably null	Het
Ergic3	A	G	2: 155,859,754 (GRCm39)	I227V	probably damaging	Het
Fam227b	G	T	2: 125,986,227 (GRCm39)	P13Q	probably damaging	Het
Gal	A	G	19: 3,460,108 (GRCm39)	L121P	possibly damaging	Het
Garin2	T	C	12: 78,762,131 (GRCm39)	V265A	possibly damaging	Het
Ifi207	T	C	1: 173,556,972 (GRCm39)	T589A	probably benign	Het
Intu	T	C	3: 40,586,100 (GRCm39)	V27A	probably benign	Het
Lama1	A	T	17: 68,111,495 (GRCm39)	I2249L	probably benign	Het
Pdc	T	C	1: 150,209,086 (GRCm39)	Y190H	probably damaging	Het
Pmm2	T	C	16: 8,473,506 (GRCm39)	L240P	probably damaging	Het
Polr1a	T	C	6: 71,944,358 (GRCm39)	V1275A	probably damaging	Het
Rgsl1	T	A	1: 153,701,512 (GRCm39)	N314I	possibly damaging	Het
Rpe65	A	T	3: 159,320,345 (GRCm39)	N301Y	probably damaging	Het
Ryr1	A	G	7: 28,737,770 (GRCm39)		probably null	Het
Sh3bp4	A	G	1: 89,080,888 (GRCm39)	S902G	possibly damaging	Het
Slc44a4	A	T	17: 35,149,201 (GRCm39)	R705W	probably damaging	Het
Slc4a10	A	G	2: 62,080,747 (GRCm39)	I325V	possibly damaging	Het
Spns1	A	G	7: 125,974,237 (GRCm39)		probably null	Het
Syt6	T	G	3: 103,532,960 (GRCm39)	L363R	probably damaging	Het
Ttn	A	G	2: 76,544,759 (GRCm39)	V32781A	probably benign	Het
Ube2l6	A	G	2: 84,636,852 (GRCm39)	T99A	probably damaging	Het
Unc13b	A	T	4: 43,177,412 (GRCm39)		probably benign	Het
Vmn1r189	A	T	13: 22,286,066 (GRCm39)	L257H	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfpm2	T	C	15: 40,518,981 (GRCm39)		probably null	Het

Other mutations in Actg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0731:Actg1	UTSW	11	120,237,775 (GRCm39)	missense	probably damaging	1.00
R2015:Actg1	UTSW	11	120,237,636 (GRCm39)	missense	possibly damaging	0.95
R2860:Actg1	UTSW	11	120,237,627 (GRCm39)	missense	probably benign	0.03
R2861:Actg1	UTSW	11	120,237,627 (GRCm39)	missense	probably benign	0.03
R2862:Actg1	UTSW	11	120,237,627 (GRCm39)	missense	probably benign	0.03
R4473:Actg1	UTSW	11	120,239,085 (GRCm39)	missense	probably benign	0.01
R4732:Actg1	UTSW	11	120,238,305 (GRCm39)	splice site	probably benign
R5004:Actg1	UTSW	11	120,238,986 (GRCm39)	intron	probably benign
R5026:Actg1	UTSW	11	120,237,784 (GRCm39)	missense	probably damaging	1.00
R5060:Actg1	UTSW	11	120,237,839 (GRCm39)	missense	probably benign	0.10
R5216:Actg1	UTSW	11	120,238,580 (GRCm39)	missense	probably damaging	0.98
R6328:Actg1	UTSW	11	120,238,586 (GRCm39)	missense	possibly damaging	0.90
R6888:Actg1	UTSW	11	120,238,141 (GRCm39)	missense	probably damaging	1.00
R8461:Actg1	UTSW	11	120,239,010 (GRCm39)	missense	unknown
R8488:Actg1	UTSW	11	120,238,517 (GRCm39)	missense	possibly damaging	0.52
R9033:Actg1	UTSW	11	120,237,826 (GRCm39)	missense	probably benign	0.09
R9189:Actg1	UTSW	11	120,239,013 (GRCm39)	missense	unknown
Z1177:Actg1	UTSW	11	120,238,935 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGACTGAGTACTTGCGCTC -3'
(R):5'- GTGATCACCATTGGCAATGAGC -3'

Sequencing Primer
(F):5'- CTCAGGGGGAGCAATGATCTGTG -3'
(R):5'- CAATGAGCGGTTCCGGTGTC -3'

Posted On

2018-07-23