Mutagenetix > Incidental Mutation

Incidental Mutation 'R2860:Actg1'

252850

Institutional Source

Beutler Lab

Gene Symbol

Actg1

Ensembl Gene

ENSMUSG00000062825

Gene Name

actin, gamma, cytoplasmic 1

Synonyms

E51, Actl

MMRRC Submission

040450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120236513-120239321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120237627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 52 (I52V)

Ref Sequence

ENSEMBL: ENSMUSP00000101821 (fasta)

Gene Model

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

AlphaFold

P63260

Predicted Effect

probably benign
Transcript: ENSMUST00000062147
AA Change: I52V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101821
Gene: ENSMUSG00000062825
AA Change: I52V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071555
AA Change: I274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: I274V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089616
AA Change: I29V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825
AA Change: I29V

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
AA Change: I274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: I274V

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: ENSMUST00000175523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143813

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,571,736 (GRCm39)	V1131M	probably benign	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Ano1	C	T	7: 144,143,749 (GRCm39)	G1011E	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Ash1l	T	C	3: 88,961,785 (GRCm39)	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277 (GRCm39)	D250G	probably damaging	Het
Atr	A	G	9: 95,756,296 (GRCm39)	N836S	probably benign	Het
Bltp1	G	A	3: 37,019,998 (GRCm39)	S2079N	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
C2	T	C	17: 35,082,854 (GRCm39)	T471A	possibly damaging	Het
C4b	T	A	17: 34,953,732 (GRCm39)	S959C	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Capn2	A	T	1: 182,300,485 (GRCm39)		probably benign	Het
Cd38	A	G	5: 44,058,775 (GRCm39)	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,311,085 (GRCm39)	R202G	probably damaging	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cps1	A	T	1: 67,205,534 (GRCm39)	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,392,309 (GRCm39)	Y215*	probably null	Het
Dennd10	T	C	19: 60,803,232 (GRCm39)	S80P	probably benign	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gab1	T	C	8: 81,511,382 (GRCm39)	M488V	probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gbx2	C	T	1: 89,856,853 (GRCm39)	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Gpn1	A	G	5: 31,654,664 (GRCm39)	D72G	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,401,442 (GRCm39)	L189R	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Inka1	T	C	9: 107,861,603 (GRCm39)	T238A	probably benign	Het
Itsn2	C	A	12: 4,750,315 (GRCm39)		probably benign	Het
Kcnn1	T	C	8: 71,299,179 (GRCm39)	K487R	probably benign	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lama5	T	C	2: 179,829,040 (GRCm39)	T2034A	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4f56	G	T	2: 111,703,818 (GRCm39)	C127*	probably null	Het
Or5p66	A	G	7: 107,886,169 (GRCm39)	S55P	probably damaging	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parp16	G	T	9: 65,141,086 (GRCm39)	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,259,500 (GRCm39)	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,784,420 (GRCm39)	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Plin4	T	C	17: 56,413,668 (GRCm39)	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pum3	A	T	19: 27,397,525 (GRCm39)		probably benign	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rims1	A	T	1: 22,503,227 (GRCm39)	F653I	probably benign	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,607,979 (GRCm39)	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,386,003 (GRCm39)	V115M	probably damaging	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Sri	A	T	5: 8,117,540 (GRCm39)	Q178L	probably benign	Het
Tex14	T	G	11: 87,365,243 (GRCm39)	D62E	probably damaging	Het
Tshz1	G	T	18: 84,033,105 (GRCm39)	H434Q	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r59	A	G	7: 41,696,427 (GRCm39)	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,454,760 (GRCm39)	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Wiz	G	T	17: 32,580,680 (GRCm39)	T257K	probably damaging	Het
Xirp1	A	G	9: 119,847,444 (GRCm39)	S41P	probably benign	Het
Xirp1	T	C	9: 119,848,881 (GRCm39)	M1V	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
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'- TGGTAGCCACTCACCTTAATC -3'
(R):5'- GCAAGAAATGGCTACTGCTGC -3'

Sequencing Primer
(F):5'- AATCTTCATCGTGCTAGGTGC -3'
(R):5'- GAAATGGCTACTGCTGCATCATC -3'

Posted On

2014-12-04