Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00574:Actr3'

7387

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actr3

Ensembl Gene

ENSMUSG00000026341

Gene Name

ARP3 actin-related protein 3

Synonyms

Arp3, 1200003A09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00574

Quality Score

Status

Chromosome

Chromosomal Location

125320642-125363464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125339011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 109 (Y109C)

Ref Sequence

ENSEMBL: ENSMUSP00000140000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000185280] [ENSMUST00000187460] [ENSMUST00000188497] [ENSMUST00000191004] [ENSMUST00000191544] [ENSMUST00000191578]

AlphaFold

Q99JY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027579
AA Change: Y109C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: Y109C

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178474
AA Change: Y109C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: Y109C

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.62e-186	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185280
AA Change: Y21C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341
AA Change: Y21C

Domain	Start	End	E-Value	Type
Pfam:Actin	1	70	2.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187460
AA Change: Y109C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: Y109C

Domain	Start	End	E-Value	Type
ACTIN	5	161	3.4e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188497
AA Change: Y109C

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: Y109C

Domain	Start	End	E-Value	Type
ACTIN	5	216	7.6e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189192

Predicted Effect

probably benign
Transcript: ENSMUST00000191004
AA Change: Y58C

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341
AA Change: Y58C

Domain	Start	End	E-Value	Type
Pfam:Actin	2	129	2.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191544
AA Change: Y58C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341
AA Change: Y58C

Domain	Start	End	E-Value	Type
ACTIN	1	155	2.8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191578

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,703,107 (GRCm39)	L568Q	probably damaging	Het
Baiap2	T	C	11: 119,897,234 (GRCm39)	S530P	probably damaging	Het
Bmpr1a	T	C	14: 34,156,376 (GRCm39)	I164V	probably benign	Het
Btaf1	A	G	19: 36,947,330 (GRCm39)	N473S	probably benign	Het
Egr4	T	C	6: 85,489,487 (GRCm39)	D191G	probably damaging	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Grk4	T	A	5: 34,852,162 (GRCm39)	N135K	probably benign	Het
Hectd1	T	C	12: 51,820,787 (GRCm39)	N1134S	probably benign	Het
Macrod2	T	G	2: 140,242,797 (GRCm39)	M21R	probably damaging	Het
Mtx3	G	T	13: 92,984,384 (GRCm39)	Q188H	possibly damaging	Het
Otx1	T	C	11: 21,946,794 (GRCm39)		probably benign	Het
Pcdhb8	T	G	18: 37,489,423 (GRCm39)	F26C	probably damaging	Het
Pdgfra	T	A	5: 75,341,708 (GRCm39)	I647K	probably damaging	Het
Psapl1	C	A	5: 36,362,975 (GRCm39)	N522K	probably benign	Het
Rbm10	T	A	X: 20,516,931 (GRCm39)		probably benign	Het
Rbm10	G	A	X: 20,516,932 (GRCm39)		probably benign	Het
Ric1	A	G	19: 29,572,762 (GRCm39)	E734G	probably damaging	Het
Sec24c	T	C	14: 20,742,463 (GRCm39)	V837A	probably damaging	Het
Shoc1	T	A	4: 59,094,201 (GRCm39)	R174S	possibly damaging	Het
Sohlh2	C	T	3: 55,111,747 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,469,937 (GRCm39)	Q43*	probably null	Het
Tmem147	G	A	7: 30,427,858 (GRCm39)	R66*	probably null	Het
Tmem150c	G	T	5: 100,240,810 (GRCm39)	H51N	probably benign	Het
Usp47	A	T	7: 111,662,542 (GRCm39)	K228M	probably damaging	Het

Other mutations in Actr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Actr3	APN	1	125,324,966 (GRCm39)	missense	probably benign	0.00
IGL00715:Actr3	APN	1	125,322,813 (GRCm39)	missense	probably damaging	0.96
IGL01139:Actr3	APN	1	125,333,622 (GRCm39)	missense	probably damaging	1.00
IGL01897:Actr3	APN	1	125,346,025 (GRCm39)	missense	possibly damaging	0.54
P0023:Actr3	UTSW	1	125,322,803 (GRCm39)	critical splice donor site	probably null
R0217:Actr3	UTSW	1	125,335,150 (GRCm39)	splice site	probably benign
R0660:Actr3	UTSW	1	125,336,304 (GRCm39)	missense	probably benign	0.40
R1494:Actr3	UTSW	1	125,344,018 (GRCm39)	missense	probably benign	0.06
R1582:Actr3	UTSW	1	125,333,662 (GRCm39)	missense	probably benign	0.01
R1589:Actr3	UTSW	1	125,336,300 (GRCm39)	missense	probably damaging	1.00
R3432:Actr3	UTSW	1	125,321,776 (GRCm39)	missense	probably damaging	1.00
R5810:Actr3	UTSW	1	125,344,116 (GRCm39)	intron	probably benign
R6089:Actr3	UTSW	1	125,335,132 (GRCm39)	missense	probably damaging	1.00
R6276:Actr3	UTSW	1	125,322,874 (GRCm39)	missense	probably benign
R7120:Actr3	UTSW	1	125,331,169 (GRCm39)	nonsense	probably null
R9533:Actr3	UTSW	1	125,339,048 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20