Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01152:Actn1'

52515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actn1

Ensembl Gene

ENSMUSG00000015143

Gene Name

actinin, alpha 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

80167547-80260371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80199046 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 121 (K121R)

Ref Sequence

ENSEMBL: ENSMUSP00000127176 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021554
AA Change: K121R

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: K121R

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 damaging
Transcript: ENSMUST00000167327
AA Change: K121R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: K121R

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: ENSMUST00000218874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220351

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,435,164	H356L	probably benign	Het
A730013G03Rik	T	G	1: 192,833,639		noncoding transcript	Het
Abcb4	G	A	5: 8,950,678	V1031M	probably benign	Het
Abcc4	A	G	14: 118,599,385	S655P	probably damaging	Het
Aldh1l2	T	A	10: 83,522,886	R82*	probably null	Het
Arhgap31	T	A	16: 38,602,239	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 67,847,206	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,592,015	M401V	possibly damaging	Het
Brca2	A	T	5: 150,542,390	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,552,300	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clk1	A	T	1: 58,413,452	C359S	possibly damaging	Het
Clk2	T	A	3: 89,176,511	F479I	probably damaging	Het
Cul4b	T	C	X: 38,543,370	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,620		probably null	Het
Dgkb	T	A	12: 38,084,234	N46K	probably damaging	Het
Dnah9	C	T	11: 66,072,056	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,680,873	N281S	probably benign	Het
Galnt5	A	T	2: 58,025,393	I654L	probably benign	Het
Gm9989	T	G	3: 81,922,211		noncoding transcript	Het
Gpr179	T	C	11: 97,337,411	E1306G	probably benign	Het
Gsc	C	A	12: 104,471,605	K219N	probably damaging	Het
Gsx2	A	T	5: 75,075,791	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,135,164	E121A	probably damaging	Het
Lama2	C	T	10: 27,208,429	R915H	probably benign	Het
Large2	A	G	2: 92,370,639	L64P	probably damaging	Het
Lztr1	C	A	16: 17,522,453	Q136K	probably damaging	Het
Mageb18	A	G	X: 92,119,824	W271R	possibly damaging	Het
Magoh	A	C	4: 107,885,006		probably benign	Het
Mrgprx1	T	C	7: 48,021,486	H171R	probably benign	Het
Muc1	C	A	3: 89,230,754	T301K	probably benign	Het
Nbas	C	T	12: 13,360,958	L868F	probably damaging	Het
Nwd2	A	G	5: 63,806,529	D1152G	possibly damaging	Het
Olfr493	C	T	7: 108,346,949	A11T	probably benign	Het
Olfr77	G	A	9: 19,920,949	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,986,172	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,263,776	D350G	probably benign	Het
Pcolce2	A	T	9: 95,692,923	N309Y	probably damaging	Het
Pim2	C	A	X: 7,878,422		probably benign	Het
Plcb1	A	G	2: 134,813,659	Y53C	probably damaging	Het
Pogk	T	C	1: 166,408,478	E18G	probably damaging	Het
Pxdn	T	A	12: 30,001,937	D704E	probably damaging	Het
Rb1	C	A	14: 73,205,870	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,915,899	H247R	possibly damaging	Het
Scube1	A	T	15: 83,613,570	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,116,333	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,636,911	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,169,847		probably benign	Het
Smarcc1	A	C	9: 110,139,625	E130A	possibly damaging	Het
Strc	A	G	2: 121,370,795	M1273T	probably benign	Het
Tmem116	A	G	5: 121,463,799	I21V	probably benign	Het
Tmem190	T	C	7: 4,784,026		probably benign	Het
Trim63	C	T	4: 134,325,676	A316V	probably benign	Het
Ugt2b34	T	C	5: 86,901,203	E321G	probably damaging	Het
Zfat	T	A	15: 68,110,504	R1053S	probably damaging	Het

Other mutations in Actn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Actn1	APN	12	80199072	splice site	probably null
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
R0606:Actn1	UTSW	12	80174647	splice site	probably benign
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	probably null
R8287:Actn1	UTSW	12	80174078	critical splice donor site	probably null
R8469:Actn1	UTSW	12	80193683	missense	possibly damaging	0.95
R8794:Actn1	UTSW	12	80198980	critical splice donor site	probably benign

Posted On

2013-06-21