Mutagenetix > Incidental Mutations

Incidental Mutation 'R0606:Actn1'

54167

Institutional Source

Beutler Lab

Gene Symbol

Actn1

Ensembl Gene

ENSMUSG00000015143

Gene Name

actinin, alpha 1

Synonyms

MMRRC Submission

038795-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R0606 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

80167547-80260371 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 80174647 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021554] [ENSMUST00000167327]

Predicted Effect

probably benign
Transcript: ENSMUST00000021554

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143

Domain	Start	End	E-Value	Type
CH	33	133	4.24e-23	SMART
CH	146	245	5.06e-21	SMART
Pfam:Spectrin	274	384	5.9e-17	PFAM
SPEC	397	498	1.69e-25	SMART
SPEC	512	619	1.47e-2	SMART
Pfam:Spectrin	630	733	4.7e-14	PFAM
EFh	750	778	1.73e-5	SMART
EFh	791	819	8.13e-2	SMART
efhand_Ca_insen	822	888	5.22e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167327

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143

Domain	Start	End	E-Value	Type
CH	33	133	4.24e-23	SMART
CH	146	245	5.06e-21	SMART
Pfam:Spectrin	274	384	1.7e-17	PFAM
SPEC	397	498	1.69e-25	SMART
SPEC	512	619	1.47e-2	SMART
Pfam:Spectrin	630	733	8.4e-14	PFAM
EFh	750	778	1.36e0	SMART
EFh	786	814	8.13e-2	SMART
efhand_Ca_insen	817	883	5.22e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219634

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598	Y211H	probably damaging	Het
Adtrp	A	G	13: 41,767,405	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494		probably benign	Het
Ccr3	T	A	9: 124,028,802	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617		probably benign	Het
Chst5	A	G	8: 111,890,919	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586		probably benign	Het
Col4a6	A	G	X: 141,192,223		probably benign	Het
Csmd3	T	C	15: 48,457,662	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746		probably benign	Het
Dhx58	T	A	11: 100,702,251	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963		probably benign	Het
Fryl	T	A	5: 73,124,734	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696	W15R	probably benign	Het
Gif	A	T	19: 11,752,294	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653	K63*	probably null	Het
Gne	C	T	4: 44,042,244	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798		probably benign	Het
Ift172	A	G	5: 31,254,313	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261		probably benign	Het
Itgb1	A	T	8: 128,722,372		probably benign	Het
Kctd21	G	A	7: 97,347,601	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290		probably benign	Het
Nkx3-1	G	A	14: 69,191,006		probably benign	Het
Npat	T	C	9: 53,556,481		probably null	Het
Nrxn1	T	C	17: 90,565,373	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087		probably benign	Het
Ppm1d	C	T	11: 85,345,877	T494I	probably benign	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194		probably benign	Het
Ptprg	T	A	14: 12,154,131	S617R	probably benign	Het
R3hdm2	G	A	10: 127,444,444	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723	H221L	probably benign	Het
Smo	A	C	6: 29,753,604	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300		probably benign	Het
Snf8	G	T	11: 96,034,973		probably benign	Het
Spata31d1a	T	C	13: 59,702,431	S628G	probably benign	Het
Sphkap	A	T	1: 83,280,424	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908		probably benign	Het
Ttbk2	A	T	2: 120,773,872	M215K	probably damaging	Het
Ttc8	C	T	12: 98,943,459		probably benign	Het
Ube3c	A	G	5: 29,590,928	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983		probably benign	Het
Usp36	A	G	11: 118,263,028		probably benign	Het
Vmn2r102	T	C	17: 19,678,844	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208		probably benign	Het
Zar1	G	T	5: 72,580,543	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797		probably benign	Het
Zfp454	A	G	11: 50,874,185	F140S	probably benign	Het

Other mutations in Actn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Actn1	APN	12	80199072	splice site	probably null
IGL01152:Actn1	APN	12	80199046	missense	probably damaging	1.00
IGL01386:Actn1	APN	12	80193672	missense	probably benign	0.03
IGL01890:Actn1	APN	12	80184868	missense	probably damaging	0.99
IGL01937:Actn1	APN	12	80171763	missense	probably benign	0.03
IGL02142:Actn1	APN	12	80176155	critical splice donor site	probably null
IGL02191:Actn1	APN	12	80174109	missense	probably benign
IGL02217:Actn1	APN	12	80174094	nonsense	probably null
IGL02230:Actn1	APN	12	80171830	missense	probably benign	0.02
IGL03163:Actn1	APN	12	80181417	missense	probably benign	0.33
IGL03401:Actn1	APN	12	80168967	nonsense	probably null
R0538:Actn1	UTSW	12	80260100	unclassified	probably benign
R0546:Actn1	UTSW	12	80178434	missense	probably benign
R0583:Actn1	UTSW	12	80199029	missense	probably damaging	1.00
R1340:Actn1	UTSW	12	80173144	critical splice acceptor site	probably null
R1519:Actn1	UTSW	12	80205078	missense	probably damaging	1.00
R1572:Actn1	UTSW	12	80172957	splice site	probably benign
R1619:Actn1	UTSW	12	80173022	missense	probably damaging	1.00
R1677:Actn1	UTSW	12	80260032	missense	probably benign	0.02
R1994:Actn1	UTSW	12	80204971	nonsense	probably null
R2102:Actn1	UTSW	12	80183517	missense	probably benign	0.38
R2157:Actn1	UTSW	12	80173117	missense	probably benign	0.04
R2191:Actn1	UTSW	12	80171802	nonsense	probably null
R2519:Actn1	UTSW	12	80192389	missense	probably damaging	1.00
R2988:Actn1	UTSW	12	80192388	missense	possibly damaging	0.78
R4024:Actn1	UTSW	12	80168477	missense	probably damaging	1.00
R4589:Actn1	UTSW	12	80171799	missense	possibly damaging	0.53
R4907:Actn1	UTSW	12	80181414	missense	probably damaging	0.99
R4936:Actn1	UTSW	12	80172998	missense	probably benign	0.09
R4966:Actn1	UTSW	12	80173130	missense	probably benign	0.01
R4972:Actn1	UTSW	12	80173039	missense	probably benign	0.35
R5395:Actn1	UTSW	12	80170703	missense	probably benign
R5460:Actn1	UTSW	12	80183568	missense	probably benign	0.00
R5467:Actn1	UTSW	12	80176217	missense	possibly damaging	0.86
R5470:Actn1	UTSW	12	80168941	missense	probably damaging	0.99
R5661:Actn1	UTSW	12	80184844	missense	probably benign	0.09
R5985:Actn1	UTSW	12	80168395	missense	probably damaging	1.00
R6020:Actn1	UTSW	12	80174455	splice site	probably null
R6042:Actn1	UTSW	12	80177249	missense	probably benign	0.04
R6389:Actn1	UTSW	12	80174522	missense	probably benign
R6499:Actn1	UTSW	12	80168417	missense	possibly damaging	0.59
R6709:Actn1	UTSW	12	80193644	missense	probably damaging	1.00
R7016:Actn1	UTSW	12	80172968	missense	possibly damaging	0.94
R7116:Actn1	UTSW	12	80204977	missense	probably damaging	1.00
R7173:Actn1	UTSW	12	80177259	missense	possibly damaging	0.70
R7183:Actn1	UTSW	12	80168932	missense	possibly damaging	0.87
R7291:Actn1	UTSW	12	80174085	missense	probably benign	0.00
R7361:Actn1	UTSW	12	80193715	missense	probably benign	0.01
R7452:Actn1	UTSW	12	80183602	missense	probably benign	0.12
R7698:Actn1	UTSW	12	80174537	missense	probably benign	0.00
R7701:Actn1	UTSW	12	80174554	missense	possibly damaging	0.88
R8000:Actn1	UTSW	12	80199008	missense	probably damaging	1.00
R8171:Actn1	UTSW	12	80196393	critical splice donor site	unknown

Predicted Primers

PCR Primer
(F):5'- ACTCACATGGTCCCATTTGCCATTG -3'
(R):5'- TGAGTGTACCAGCCCTCAACTCAG -3'

Sequencing Primer
(F):5'- CCATTGATCTCCTGAGGCG -3'
(R):5'- GCTGGCTCTGCCTTTGC -3'

Posted On

2013-07-11