Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01637:Actn4'

93065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actn4

Ensembl Gene

ENSMUSG00000054808

Gene Name

actinin alpha 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.841) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

28893248-28962340 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28904684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 384 (I384N)

Ref Sequence

ENSEMBL: ENSMUSP00000151028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068045] [ENSMUST00000127210] [ENSMUST00000140622] [ENSMUST00000217157]

AlphaFold

P57780

Predicted Effect

probably damaging
Transcript: ENSMUST00000068045
AA Change: I384N

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

SMART Domains

Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: I384N

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CH	53	153	1.08e-24	SMART
CH	166	265	3.49e-24	SMART
SPEC	297	403	2.83e0	SMART
SPEC	417	518	3.78e-23	SMART
SPEC	532	639	8.64e-9	SMART
SPEC	653	752	3.56e0	SMART
EFh	770	798	1.92e-3	SMART
EFh	811	839	1.56e-3	SMART
efhand_Ca_insen	842	908	1.27e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127210
AA Change: I384N

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

SMART Domains

Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808
AA Change: I384N

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CH	53	153	1.08e-24	SMART
CH	166	265	1.03e-21	SMART
SPEC	297	403	2.83e0	SMART
SPEC	417	518	3.78e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140622

SMART Domains

Protein: ENSMUSP00000123210
Gene: ENSMUSG00000054808

Domain	Start	End	E-Value	Type
CH	3	68	1.09e-1	SMART
CH	81	180	3.49e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150493

Predicted Effect

probably damaging
Transcript: ENSMUST00000217157
AA Change: I384N

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

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, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene die either around birth or within a few months of birth. Those who do survive after birth show poor growth and kidney abnormalities including glomerulosclerosis. This is manifested functionally as proteinuria and abnormal blood urea nitrogen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Actn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Actn4	APN	7	28897880	missense	probably benign
IGL02192:Actn4	APN	7	28898400	missense	possibly damaging	0.93
IGL02862:Actn4	APN	7	28912234	splice site	probably benign
IGL03339:Actn4	APN	7	28901982	missense	probably damaging	1.00
R0067:Actn4	UTSW	7	28911570	missense	possibly damaging	0.67
R0067:Actn4	UTSW	7	28911570	missense	possibly damaging	0.67
R0243:Actn4	UTSW	7	28905398	missense	probably benign	0.29
R0689:Actn4	UTSW	7	28897049	missense	probably damaging	1.00
R0845:Actn4	UTSW	7	28913430	missense	probably damaging	1.00
R1469:Actn4	UTSW	7	28905328	missense	probably benign	0.15
R1469:Actn4	UTSW	7	28898266	splice site	probably benign
R1469:Actn4	UTSW	7	28905328	missense	probably benign	0.15
R1581:Actn4	UTSW	7	28898646	missense	probably benign	0.04
R1690:Actn4	UTSW	7	28911525	missense	probably damaging	1.00
R1962:Actn4	UTSW	7	28894622	missense	probably damaging	1.00
R2113:Actn4	UTSW	7	28898124	missense	probably benign	0.42
R2215:Actn4	UTSW	7	28918753	missense	possibly damaging	0.88
R2429:Actn4	UTSW	7	28898071	missense	probably benign	0.00
R3945:Actn4	UTSW	7	28912236	splice site	probably null
R3962:Actn4	UTSW	7	28898222	splice site	probably null
R3970:Actn4	UTSW	7	28962032	missense	probably benign
R4909:Actn4	UTSW	7	28898657	missense	probably damaging	1.00
R4985:Actn4	UTSW	7	28918986	missense	probably damaging	1.00
R5155:Actn4	UTSW	7	28962017	critical splice donor site	probably null
R5201:Actn4	UTSW	7	28916255	splice site	probably null
R5668:Actn4	UTSW	7	28904550	missense	probably damaging	1.00
R5818:Actn4	UTSW	7	28919019	missense	probably damaging	1.00
R6046:Actn4	UTSW	7	28904619	missense	probably benign	0.03
R6155:Actn4	UTSW	7	28896141	missense	probably damaging	1.00
R6559:Actn4	UTSW	7	28907036	missense	possibly damaging	0.87
R7224:Actn4	UTSW	7	28962084	missense	probably benign	0.08
R7225:Actn4	UTSW	7	28898699	missense	probably damaging	1.00
R7423:Actn4	UTSW	7	28894255	missense	probably damaging	0.97
R7665:Actn4	UTSW	7	28916207	missense	probably damaging	1.00
R7704:Actn4	UTSW	7	28897042	missense	possibly damaging	0.76
R8096:Actn4	UTSW	7	28894583	missense	possibly damaging	0.88
R8096:Actn4	UTSW	7	28901913	missense	probably damaging	1.00
R8954:Actn4	UTSW	7	28895158	missense	probably damaging	0.96
R8987:Actn4	UTSW	7	28896973	missense	probably benign	0.00
R9128:Actn4	UTSW	7	28894504	missense	possibly damaging	0.90
Z1088:Actn4	UTSW	7	28894578	missense	probably damaging	1.00
Z1177:Actn4	UTSW	7	28919049	missense	probably damaging	1.00

Posted On

2013-12-09