Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Actn4'

216970

Institutional Source

Beutler Lab

Gene Symbol

Actn4

Ensembl Gene

ENSMUSG00000054808

Gene Name

actinin alpha 4

Synonyms

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R1962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28592673-28661765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28594047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 840 (D840G)

Ref Sequence

ENSEMBL: ENSMUSP00000151028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066880] [ENSMUST00000068045] [ENSMUST00000127210] [ENSMUST00000217157]

AlphaFold

P57780

Predicted Effect

probably benign
Transcript: ENSMUST00000066880

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083

Domain	Start	End	E-Value	Type
CysPc	27	349	7.8e-139	SMART
calpain_III	353	529	7.47e-72	SMART
SCOP:d1alva_	552	720	3e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000068045
AA Change: D820G

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

SMART Domains

Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: D820G

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 benign
Transcript: ENSMUST00000127210

SMART Domains

Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808

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

noncoding transcript
Transcript: ENSMUST00000129338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208299

Predicted Effect

unknown
Transcript: ENSMUST00000216863
AA Change: D230G

Predicted Effect

probably damaging
Transcript: ENSMUST00000217157
AA Change: D840G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,940,468 (GRCm39)	I354M	probably damaging	Het
Abca8a	T	C	11: 109,917,731 (GRCm39)		probably null	Het
Abca8b	T	C	11: 109,870,724 (GRCm39)	R143G	probably benign	Het
Agpat5	T	C	8: 18,928,026 (GRCm39)	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,512,983 (GRCm39)	V93A	probably benign	Het
Arap2	T	C	5: 62,834,007 (GRCm39)	K820R	possibly damaging	Het
Armc9	T	A	1: 86,135,696 (GRCm39)	C551S	probably damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Brms1	C	T	19: 5,096,027 (GRCm39)	R34W	probably damaging	Het
Cbx2	A	G	11: 118,919,395 (GRCm39)	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,196,988 (GRCm39)	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,356,885 (GRCm39)	V47E	probably damaging	Het
Cep170b	C	T	12: 112,704,495 (GRCm39)	S751L	probably damaging	Het
Cfap46	A	T	7: 139,246,957 (GRCm39)	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,239,679 (GRCm39)	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Dchs1	A	G	7: 105,413,408 (GRCm39)	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,725,060 (GRCm39)	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,281,263 (GRCm39)	K2775E	possibly damaging	Het
Dst	C	A	1: 34,230,097 (GRCm39)	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,127,853 (GRCm39)		probably null	Het
Dusp16	G	T	6: 134,695,099 (GRCm39)	Y577*	probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eml5	A	G	12: 98,842,570 (GRCm39)	F176S	probably damaging	Het
Esco2	C	A	14: 66,068,982 (GRCm39)	R109S	probably damaging	Het
Galnt7	C	T	8: 57,985,748 (GRCm39)	E541K	probably benign	Het
Gbf1	C	T	19: 46,255,658 (GRCm39)	T707I	probably damaging	Het
Gdf5	A	G	2: 155,783,672 (GRCm39)	C427R	probably damaging	Het
Glyctk	T	C	9: 106,035,064 (GRCm39)	M1V	probably null	Het
Gm5478	T	C	15: 101,552,830 (GRCm39)	E367G	probably damaging	Het
Golga7b	G	A	19: 42,251,768 (GRCm39)	V5I	probably benign	Het
Gpt2	T	C	8: 86,219,764 (GRCm39)	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,730,315 (GRCm39)	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,194,918 (GRCm39)	E160G	probably benign	Het
Ift81	A	T	5: 122,698,772 (GRCm39)	Y532N	probably benign	Het
Igf1	G	A	10: 87,700,726 (GRCm39)	C66Y	probably damaging	Het
Igf1r	T	C	7: 67,857,023 (GRCm39)	V995A	probably damaging	Het
Ip6k1	T	C	9: 107,918,287 (GRCm39)		probably null	Het
Jaml	T	C	9: 45,015,495 (GRCm39)	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,225,253 (GRCm39)		probably benign	Het
Kdm6b	T	C	11: 69,292,191 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,599,900 (GRCm39)	R404H	probably damaging	Het
Larp4b	C	A	13: 9,186,878 (GRCm39)	H69N	probably benign	Het
Lcat	A	T	8: 106,668,355 (GRCm39)	W222R	probably damaging	Het
Lrrc40	T	A	3: 157,746,086 (GRCm39)	C54S	probably benign	Het
Mcpt9	T	A	14: 56,265,024 (GRCm39)	H159L	probably benign	Het
Megf8	T	C	7: 25,062,976 (GRCm39)	V2444A	probably damaging	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mical2	A	T	7: 112,012,051 (GRCm39)	I634L	probably benign	Het
Mov10	C	T	3: 104,704,293 (GRCm39)	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,384,688 (GRCm39)	L546Q	probably damaging	Het
Myo6	T	C	9: 80,168,117 (GRCm39)	V427A	probably damaging	Het
Myom2	T	A	8: 15,182,599 (GRCm39)		probably null	Het
Mzt2	G	A	16: 15,666,543 (GRCm39)	R125C	probably damaging	Het
Neb	T	A	2: 52,162,949 (GRCm39)	R2031*	probably null	Het
Nphp3	T	C	9: 103,898,537 (GRCm39)	S447P	probably benign	Het
Nrp2	T	A	1: 62,758,090 (GRCm39)	D25E	probably benign	Het
Nts	A	G	10: 102,320,918 (GRCm39)	L57S	probably damaging	Het
Nudt9	G	A	5: 104,212,971 (GRCm39)	R348H	probably benign	Het
Or10d5j	T	C	9: 39,867,979 (GRCm39)	Y84C	probably benign	Het
Or13a1	C	T	6: 116,470,725 (GRCm39)	P52S	probably benign	Het
Or3a1b	C	A	11: 74,012,650 (GRCm39)	D178E	probably benign	Het
Or4k49	T	C	2: 111,495,234 (GRCm39)	I221T	probably damaging	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Pafah1b1	T	C	11: 74,590,177 (GRCm39)		probably benign	Het
Piezo2	C	A	18: 63,211,911 (GRCm39)	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,498,016 (GRCm39)	F486S	probably benign	Het
Podnl1	C	T	8: 84,853,926 (GRCm39)	H99Y	probably benign	Het
Prdm6	A	T	18: 53,701,233 (GRCm39)	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,588,854 (GRCm39)		probably null	Het
Psmd4	G	T	3: 94,944,012 (GRCm39)	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,667 (GRCm39)	T242M	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scfd1	T	C	12: 51,469,769 (GRCm39)	V438A	probably benign	Het
Scn9a	A	G	2: 66,314,655 (GRCm39)	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Shank1	T	A	7: 43,993,747 (GRCm39)		probably null	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Sncaip	C	T	18: 53,004,434 (GRCm39)	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,593,057 (GRCm39)	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,692,672 (GRCm39)	R575S	probably benign	Het
Syt9	T	A	7: 107,024,314 (GRCm39)	V69D	probably damaging	Het
Tanc2	A	G	11: 105,689,558 (GRCm39)	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,130,727 (GRCm39)	L70S	probably benign	Het
Tmem44	C	T	16: 30,362,219 (GRCm39)		probably null	Het
Tor1b	A	G	2: 30,846,931 (GRCm39)	R293G	probably benign	Het
Trim29	T	C	9: 43,222,615 (GRCm39)	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378 (GRCm39)	Y271*	probably null	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Ubqln5	T	C	7: 103,778,134 (GRCm39)	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,402,193 (GRCm39)	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,570,827 (GRCm39)	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,774,185 (GRCm39)	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,200,793 (GRCm39)	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,398,369 (GRCm39)	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,285,595 (GRCm39)	Y138*	probably null	Het
Vmn2r-ps158	T	C	7: 42,696,824 (GRCm39)	V620A	probably benign	Het
Xrra1	A	C	7: 99,560,227 (GRCm39)	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,242,362 (GRCm39)	C688*	probably null	Het
Zfp3	T	A	11: 70,662,954 (GRCm39)	Y304*	probably null	Het
Zfp407	A	T	18: 84,577,461 (GRCm39)	D1217E	probably benign	Het
Zfp658	T	C	7: 43,223,245 (GRCm39)	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,659,252 (GRCm39)	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,796,463 (GRCm39)	K820N	possibly damaging	Het

Other mutations in Actn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Actn4	APN	7	28,604,109 (GRCm39)	missense	probably damaging	1.00
IGL02127:Actn4	APN	7	28,597,305 (GRCm39)	missense	probably benign
IGL02192:Actn4	APN	7	28,597,825 (GRCm39)	missense	possibly damaging	0.93
IGL02862:Actn4	APN	7	28,611,659 (GRCm39)	splice site	probably benign
IGL03339:Actn4	APN	7	28,601,407 (GRCm39)	missense	probably damaging	1.00
R0067:Actn4	UTSW	7	28,610,995 (GRCm39)	missense	possibly damaging	0.67
R0067:Actn4	UTSW	7	28,610,995 (GRCm39)	missense	possibly damaging	0.67
R0243:Actn4	UTSW	7	28,604,823 (GRCm39)	missense	probably benign	0.29
R0689:Actn4	UTSW	7	28,596,474 (GRCm39)	missense	probably damaging	1.00
R0845:Actn4	UTSW	7	28,612,855 (GRCm39)	missense	probably damaging	1.00
R1469:Actn4	UTSW	7	28,604,753 (GRCm39)	missense	probably benign	0.15
R1469:Actn4	UTSW	7	28,604,753 (GRCm39)	missense	probably benign	0.15
R1469:Actn4	UTSW	7	28,597,691 (GRCm39)	splice site	probably benign
R1581:Actn4	UTSW	7	28,598,071 (GRCm39)	missense	probably benign	0.04
R1690:Actn4	UTSW	7	28,610,950 (GRCm39)	missense	probably damaging	1.00
R2113:Actn4	UTSW	7	28,597,549 (GRCm39)	missense	probably benign	0.42
R2215:Actn4	UTSW	7	28,618,178 (GRCm39)	missense	possibly damaging	0.88
R2429:Actn4	UTSW	7	28,597,496 (GRCm39)	missense	probably benign	0.00
R3945:Actn4	UTSW	7	28,611,661 (GRCm39)	splice site	probably null
R3962:Actn4	UTSW	7	28,597,647 (GRCm39)	splice site	probably null
R3970:Actn4	UTSW	7	28,661,457 (GRCm39)	missense	probably benign
R4909:Actn4	UTSW	7	28,598,082 (GRCm39)	missense	probably damaging	1.00
R4985:Actn4	UTSW	7	28,618,411 (GRCm39)	missense	probably damaging	1.00
R5155:Actn4	UTSW	7	28,661,442 (GRCm39)	critical splice donor site	probably null
R5201:Actn4	UTSW	7	28,615,680 (GRCm39)	splice site	probably null
R5668:Actn4	UTSW	7	28,603,975 (GRCm39)	missense	probably damaging	1.00
R5818:Actn4	UTSW	7	28,618,444 (GRCm39)	missense	probably damaging	1.00
R6046:Actn4	UTSW	7	28,604,044 (GRCm39)	missense	probably benign	0.03
R6155:Actn4	UTSW	7	28,595,566 (GRCm39)	missense	probably damaging	1.00
R6559:Actn4	UTSW	7	28,606,461 (GRCm39)	missense	possibly damaging	0.87
R7224:Actn4	UTSW	7	28,661,509 (GRCm39)	missense	probably benign	0.08
R7225:Actn4	UTSW	7	28,598,124 (GRCm39)	missense	probably damaging	1.00
R7423:Actn4	UTSW	7	28,593,680 (GRCm39)	missense	probably damaging	0.97
R7665:Actn4	UTSW	7	28,615,632 (GRCm39)	missense	probably damaging	1.00
R7704:Actn4	UTSW	7	28,596,467 (GRCm39)	missense	possibly damaging	0.76
R8096:Actn4	UTSW	7	28,601,338 (GRCm39)	missense	probably damaging	1.00
R8096:Actn4	UTSW	7	28,594,008 (GRCm39)	missense	possibly damaging	0.88
R8954:Actn4	UTSW	7	28,594,583 (GRCm39)	missense	probably damaging	0.96
R8987:Actn4	UTSW	7	28,596,398 (GRCm39)	missense	probably benign	0.00
R9128:Actn4	UTSW	7	28,593,929 (GRCm39)	missense	possibly damaging	0.90
R9507:Actn4	UTSW	7	28,606,397 (GRCm39)	missense	probably benign	0.00
R9574:Actn4	UTSW	7	28,594,864 (GRCm39)	missense	probably benign	0.03
R9746:Actn4	UTSW	7	28,618,431 (GRCm39)	missense	probably benign
Z1088:Actn4	UTSW	7	28,594,003 (GRCm39)	missense	probably damaging	1.00
Z1177:Actn4	UTSW	7	28,618,474 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTAGTACCCAGTGCTG -3'
(R):5'- CAAAGCTGGGAAAGTGAACCTC -3'

Sequencing Primer
(F):5'- CTGGCTCAAGTTTTGGCTACCG -3'
(R):5'- TGCTCCCCCAGACTTGG -3'

Posted On

2014-08-01