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: 0.607) 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
bamboozled	UTSW	19	4871655	missense	probably damaging	1.00
confused	UTSW	19	4865440	missense	probably benign	0.09
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
R7980:Actn3	UTSW	19	4867922	missense	probably damaging	1.00
R8232:Actn3	UTSW	19	4871655	missense	probably damaging	1.00
R8348:Actn3	UTSW	19	4865333	missense	possibly damaging	0.61
R8421:Actn3	UTSW	19	4861713	missense	probably benign

Predicted Primers

Posted On

2014-01-15