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

Actl, E51

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

120345690-120348542 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120346949 bp (GRCm38)

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: ENSMUST00000143813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183615

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
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Actg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2015:Actg1	UTSW	11	120346810	missense	possibly damaging	0.95
R2860:Actg1	UTSW	11	120346801	missense	probably benign	0.03
R2861:Actg1	UTSW	11	120346801	missense	probably benign	0.03
R2862:Actg1	UTSW	11	120346801	missense	probably benign	0.03
R4473:Actg1	UTSW	11	120348259	missense	probably benign	0.01
R4732:Actg1	UTSW	11	120347479	splice site	probably benign
R5004:Actg1	UTSW	11	120348160	intron	probably benign
R5026:Actg1	UTSW	11	120346958	missense	probably damaging	1.00
R5060:Actg1	UTSW	11	120347013	missense	probably benign	0.10
R5216:Actg1	UTSW	11	120347754	missense	probably damaging	0.98
R6328:Actg1	UTSW	11	120347760	missense	possibly damaging	0.90
R6660:Actg1	UTSW	11	120346755	missense	probably damaging	1.00
R6888:Actg1	UTSW	11	120347315	missense	probably damaging	1.00
R8461:Actg1	UTSW	11	120348184	missense	unknown
R8488:Actg1	UTSW	11	120347691	missense	possibly damaging	0.52
R9033:Actg1	UTSW	11	120347000	missense	probably benign	0.09
R9189:Actg1	UTSW	11	120348187	missense	unknown
Z1177:Actg1	UTSW	11	120348109	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