Mutagenetix > Incidental Mutation

Incidental Mutation 'R4473:Actg1'

330464

Institutional Source

Beutler Lab

Gene Symbol

Actg1

Ensembl Gene

ENSMUSG00000062825

Gene Name

actin, gamma, cytoplasmic 1

Synonyms

E51, Actl

MMRRC Submission

041730-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4473 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

120236513-120239321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120239085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 2 (R2C)

Ref Sequence

ENSEMBL: ENSMUSP00000134296 (fasta)

Gene Model

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

AlphaFold

P63260

Predicted Effect

probably benign
Transcript: ENSMUST00000062147

SMART Domains

Protein: ENSMUSP00000101821
Gene: ENSMUSG00000062825

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071555

SMART Domains

Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089616

SMART Domains

Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825

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 benign
Transcript: ENSMUST00000106215

SMART Domains

Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128055
AA Change: R2C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134296
Gene: ENSMUSG00000062825
AA Change: R2C

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: ENSMUST00000144868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143813

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (36/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,291,313 (GRCm39)	T93K	probably damaging	Het
Alb	T	C	5: 90,611,912 (GRCm39)	C114R	probably damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Atp2a2	A	T	5: 122,595,327 (GRCm39)	S1008T	probably benign	Het
Corin	T	C	5: 72,496,400 (GRCm39)	S510G	probably damaging	Het
D630003M21Rik	G	A	2: 158,055,382 (GRCm39)	P585L	probably damaging	Het
Eddm3b	A	G	14: 51,354,236 (GRCm39)	T75A	probably benign	Het
Elavl2	T	C	4: 91,149,246 (GRCm39)		probably null	Het
Erc1	G	T	6: 119,825,417 (GRCm39)		probably null	Het
Fancf	A	G	7: 51,511,948 (GRCm39)	C19R	probably benign	Het
Fastkd2	T	C	1: 63,770,833 (GRCm39)	L63P	probably damaging	Het
Fmo1	A	G	1: 162,677,732 (GRCm39)	V128A	possibly damaging	Het
Ifnar1	T	C	16: 91,292,058 (GRCm39)	V133A	probably damaging	Het
Ighv1-49	A	T	12: 115,018,959 (GRCm39)	Y79N	probably damaging	Het
Klhl23	A	G	2: 69,654,151 (GRCm39)	E7G	possibly damaging	Het
Mthfd2	A	G	6: 83,287,517 (GRCm39)		probably benign	Het
Or5d35	T	A	2: 87,855,464 (GRCm39)	Y133N	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Podnl1	A	T	8: 84,858,614 (GRCm39)	I505F	possibly damaging	Het
Ppp6r3	G	T	19: 3,561,978 (GRCm39)	Q228K	probably damaging	Het
Pramel38	A	G	5: 94,366,029 (GRCm39)	N49S	probably benign	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Skor2	C	T	18: 76,947,156 (GRCm39)	P293S	unknown	Het
Sox18	T	C	2: 181,312,669 (GRCm39)	K154R	probably damaging	Het
Tfpi	A	T	2: 84,288,426 (GRCm39)	L10Q	probably null	Het
Trim66	A	T	7: 109,081,202 (GRCm39)	I239N	probably damaging	Het
Ttll1	T	A	15: 83,376,810 (GRCm39)	K304N	probably damaging	Het
Vmn1r5	G	A	6: 56,962,633 (GRCm39)	V103I	probably benign	Het
Vnn1	T	C	10: 23,770,789 (GRCm39)	W6R	probably benign	Het
Wdr35	A	G	12: 9,065,995 (GRCm39)	Y651C	probably benign	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
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
R6660:Actg1	UTSW	11	120,237,581 (GRCm39)	missense	probably damaging	1.00
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'- AGCCATTGTCAATGACGAGTGC -3'
(R):5'- GGCTTACACTGCGCTTCTTG -3'

Sequencing Primer
(F):5'- ACGAGTGCGGCGATTTC -3'
(R):5'- TGCGCTTCTTGCCGCTC -3'

Posted On

2015-07-21