Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Actg1'

403492

Institutional Source

Beutler Lab

Gene Symbol

Actg1

Ensembl Gene

ENSMUSG00000062825

Gene Name

actin, gamma, cytoplasmic 1

Synonyms

E51, Actl

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120236513-120239321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120238580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 82 (M82K)

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: M82K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: M82K

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 damaging
Transcript: ENSMUST00000106215
AA Change: M82K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: M82K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128055
AA Change: M139K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134296
Gene: ENSMUSG00000062825
AA Change: M139K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131103
AA Change: M82K

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134070
Gene: ENSMUSG00000062825
AA Change: M82K

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: ENSMUST00000156343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143813

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,107,947 (GRCm39)	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,863,705 (GRCm39)	V220A	probably benign	Het
Ahi1	T	C	10: 20,835,975 (GRCm39)	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652 (GRCm39)	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,123,799 (GRCm39)	T507A	probably benign	Het
Atg7	A	G	6: 114,701,910 (GRCm39)	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,159,102 (GRCm39)	I783T	probably damaging	Het
Atp9a	T	C	2: 168,516,808 (GRCm39)	I362V	probably benign	Het
Birc6	T	A	17: 74,920,465 (GRCm39)	I168K	probably damaging	Het
Brca2	T	A	5: 150,466,445 (GRCm39)	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,688,873 (GRCm39)	I199T	probably damaging	Het
Cacng5	A	G	11: 107,768,315 (GRCm39)	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729 (GRCm39)	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,021,071 (GRCm39)	E481K	possibly damaging	Het
Cspg4b	G	A	13: 113,478,947 (GRCm39)	C1497Y	probably benign	Het
Ctr9	T	A	7: 110,644,665 (GRCm39)	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Fat3	T	C	9: 16,288,833 (GRCm39)	D230G	probably damaging	Het
Gramd4	G	A	15: 86,018,986 (GRCm39)		probably null	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Hoxd1	A	T	2: 74,594,695 (GRCm39)	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,346,757 (GRCm39)	S623P	probably benign	Het
Klhl20	A	G	1: 160,921,249 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,549,755 (GRCm39)	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mgll	T	A	6: 88,743,311 (GRCm39)	C110*	probably null	Het
Mmp14	A	G	14: 54,675,120 (GRCm39)	N251D	possibly damaging	Het
Or1e33	A	T	11: 73,738,262 (GRCm39)	S230T	probably damaging	Het
Or52k2	A	G	7: 102,254,028 (GRCm39)	T156A	probably benign	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Pfkl	T	G	10: 77,845,504 (GRCm39)	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,406,029 (GRCm39)	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,359,043 (GRCm39)	Y417*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sulf1	T	A	1: 12,867,098 (GRCm39)	M94K	probably benign	Het
Synrg	A	G	11: 83,873,022 (GRCm39)	T157A	probably damaging	Het
Syt1	T	C	10: 108,478,118 (GRCm39)	N102S	probably benign	Het
Tnip2	C	T	5: 34,661,149 (GRCm39)	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,070,048 (GRCm39)	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,181,090 (GRCm39)	D57G	probably benign	Het
Wnt2b	A	G	3: 104,868,661 (GRCm39)	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,148,977 (GRCm39)	D56N	probably damaging	Het
Zfp184	C	T	13: 22,134,406 (GRCm39)	L69F	probably damaging	Het
Zyx	T	C	6: 42,333,466 (GRCm39)	V464A	probably damaging	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
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'- AATGACTCGTCACGCCCAAG -3'
(R):5'- TCATTGACAATGGCTCCGGC -3'

Sequencing Primer
(F):5'- CCAAGGGGAGGCAAGGTCC -3'
(R):5'- CCGACACCAGGTTAGTTGAG -3'

Posted On

2016-07-22