Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Actg1'

67583

Institutional Source

Beutler Lab

Gene Symbol

Actg1

Ensembl Gene

ENSMUSG00000062825

Gene Name

actin, gamma, cytoplasmic 1

Synonyms

E51, Actl

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

120236513-120239321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120237775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 255 (F255S)

Ref Sequence

ENSEMBL: ENSMUSP00000101822 (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 damaging
Transcript: ENSMUST00000071555
AA Change: F255S

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

SMART Domains

Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: F255S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089616
AA Change: F10S

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

SMART Domains

Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825
AA Change: F10S

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: F255S

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

SMART Domains

Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: F255S

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: 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

0.9486

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably damaging	Het

Other mutations in Actg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- AATGAGCACTCATGCCCTTCCTG -3'
(R):5'- CCACCACTGCTGAGAGGGAAATTG -3'

Sequencing Primer
(F):5'- AGCACTGTATTGGCATACAGGTC -3'
(R):5'- CTGAGAGGGAAATTGTTCGTGAC -3'

Posted On

2013-09-03