Mutagenetix > Incidental Mutations

Incidental Mutation 'R1174:Actn3'

99861

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

MMRRC Submission

039247-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R1174 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4861223-4877909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4864756 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 477 (L477P)

Ref Sequence

ENSEMBL: ENSMUSP00000006626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006626
AA Change: L477P

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

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: L477P

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
CH	46	146	1.4e-23	SMART
CH	159	258	4.83e-27	SMART
low complexity region	261	272	N/A	INTRINSIC
Pfam:Spectrin	287	397	5.5e-15	PFAM
SPEC	410	511	3.78e-23	SMART
SPEC	525	632	2.37e-6	SMART
Pfam:Spectrin	643	746	4.1e-15	PFAM
EFh	763	791	7.93e-1	SMART
EFh	799	827	5.96e-1	SMART
efhand_Ca_insen	830	896	2.29e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119694

SMART Domains

Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	55	77	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC
Inhibitor_I29	165	222	5.41e-16	SMART
Pept_C1	249	460	4.2e-93	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138811

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase mitochondria density and a shift from anaerobic to aerobic metabolism in fast muscle fiber that is associated with increased aerobic capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
Adamts12	T	C	15: 11,071,757	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,751	F81S	probably damaging	Het
Alpk1	T	A	3: 127,680,810	S515C	probably damaging	Het
Bivm	A	G	1: 44,126,782	T131A	probably benign	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cox4i1	C	A	8: 120,674,050	N151K	probably benign	Het
Cpeb4	T	C	11: 31,920,472	L432P	probably damaging	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eml6	A	G	11: 29,749,824	S1771P	possibly damaging	Het
Fes	A	T	7: 80,377,951	I815N	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm10093	A	T	17: 78,492,078	Y166F	probably benign	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Idh1	G	T	1: 65,161,160	N348K	probably benign	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Lypd6b	C	T	2: 49,943,597	A83V	possibly damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mfsd13a	T	A	19: 46,374,686	I511N	probably benign	Het
Mrm3	T	C	11: 76,250,024	V286A	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Neurl4	T	C	11: 69,903,721		probably null	Het
Pclo	T	C	5: 14,677,646		probably benign	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Pik3r4	G	T	9: 105,663,174	G754C	probably damaging	Het
Qtrt1	A	G	9: 21,412,486	T136A	probably benign	Het
Rgs12	T	A	5: 34,966,465	C531S	probably benign	Het
Rin1	C	A	19: 5,055,203	Q764K	probably benign	Het
Robo4	C	T	9: 37,413,052	R959W	probably damaging	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sos1	A	C	17: 80,445,608	Y323*	probably null	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Tas2r140	T	C	6: 133,054,871	E308G	probably benign	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Tle4	C	T	19: 14,468,262	V207I	probably benign	Het
Txlnb	A	G	10: 17,842,756	N445S	probably benign	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn2r12	A	T	5: 109,092,854	I131N	probably benign	Het
Vwa1	C	T	4: 155,773,266	G25D	probably damaging	Het
Zfp185	A	T	X: 72,999,323	E138D	possibly damaging	Het

Other mutations in Actn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ballooned	UTSW	19	4871848	missense	probably damaging	1.00
PIT4480001:Actn3	UTSW	19	4867577	nonsense	probably null
R0128:Actn3	UTSW	19	4871615	missense	probably damaging	1.00
R1181:Actn3	UTSW	19	4872610	missense	probably benign	0.07
R1239:Actn3	UTSW	19	4865455	unclassified	probably benign
R1445:Actn3	UTSW	19	4865455	unclassified	probably benign
R1698:Actn3	UTSW	19	4862207	missense	possibly damaging	0.55
R2127:Actn3	UTSW	19	4871675	missense	probably damaging	1.00
R4017:Actn3	UTSW	19	4867546	missense	possibly damaging	0.95
R4293:Actn3	UTSW	19	4865440	missense	probably benign	0.09
R4482:Actn3	UTSW	19	4863408	critical splice donor site	probably null
R4840:Actn3	UTSW	19	4864511	missense	probably damaging	1.00
R4868:Actn3	UTSW	19	4864454	missense	probably benign	0.24
R5152:Actn3	UTSW	19	4863544	missense	probably damaging	1.00
R5349:Actn3	UTSW	19	4867958	missense	possibly damaging	0.94
R5420:Actn3	UTSW	19	4865344	frame shift	probably null
R5448:Actn3	UTSW	19	4863211	missense	possibly damaging	0.94
R5563:Actn3	UTSW	19	4872316	missense	probably damaging	1.00
R5753:Actn3	UTSW	19	4864567	critical splice acceptor site	probably null
R6457:Actn3	UTSW	19	4871848	missense	probably damaging	1.00
R7236:Actn3	UTSW	19	4871616	missense	probably benign	0.07
R7470:Actn3	UTSW	19	4867814	missense	possibly damaging	0.87

Predicted Primers

Posted On

2014-01-15