Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Actr3b'

173665

Institutional Source

Beutler Lab

Gene Symbol

Actr3b

Ensembl Gene

ENSMUSG00000056367

Gene Name

ARP3 actin-related protein 3B

Synonyms

Arp3b, ARP11

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25964995-26055686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26017009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 19 (D19G)

Ref Sequence

ENSEMBL: ENSMUSP00000121629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088244] [ENSMUST00000128727]

AlphaFold

Q641P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000088244
AA Change: D107G

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

SMART Domains

Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: D107G

Domain	Start	End	E-Value	Type
ACTIN	5	413	1.33e-178	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128727
AA Change: D19G

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

SMART Domains

Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: D19G

Domain	Start	End	E-Value	Type
ACTIN	1	325	1.27e-111	SMART

Meta Mutation Damage Score

0.9133

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Casr	T	C	16: 36,320,567 (GRCm39)	K527R	probably damaging	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gas6	T	C	8: 13,515,902 (GRCm39)		probably null	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,869,456 (GRCm39)	L486P	probably damaging	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,416,916 (GRCm39)	Y40N	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Slc17a3	T	C	13: 24,041,181 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	probably damaging	Het

Other mutations in Actr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02457:Actr3b	APN	5	26,054,160 (GRCm39)	splice site	probably null
IGL02582:Actr3b	APN	5	26,037,411 (GRCm39)	missense	probably benign	0.11
IGL02869:Actr3b	APN	5	26,037,433 (GRCm39)	missense	probably damaging	1.00
IGL02946:Actr3b	APN	5	26,053,481 (GRCm39)	missense	possibly damaging	0.50
R0443:Actr3b	UTSW	5	26,053,409 (GRCm39)	missense	probably damaging	0.99
R0446:Actr3b	UTSW	5	26,036,730 (GRCm39)	missense	probably damaging	0.98
R0727:Actr3b	UTSW	5	26,016,937 (GRCm39)	missense	possibly damaging	0.89
R1070:Actr3b	UTSW	5	26,053,491 (GRCm39)	splice site	probably benign
R1820:Actr3b	UTSW	5	26,054,156 (GRCm39)	critical splice donor site	probably null
R1837:Actr3b	UTSW	5	26,030,157 (GRCm39)	missense	probably benign	0.00
R1899:Actr3b	UTSW	5	26,034,536 (GRCm39)	missense	possibly damaging	0.71
R2041:Actr3b	UTSW	5	25,965,128 (GRCm39)	critical splice donor site	probably null
R2096:Actr3b	UTSW	5	26,036,743 (GRCm39)	nonsense	probably null
R2109:Actr3b	UTSW	5	26,036,709 (GRCm39)	missense	possibly damaging	0.89
R2256:Actr3b	UTSW	5	26,027,403 (GRCm39)	missense	possibly damaging	0.88
R3078:Actr3b	UTSW	5	26,027,440 (GRCm39)	missense	probably damaging	1.00
R5572:Actr3b	UTSW	5	26,014,886 (GRCm39)	missense	probably benign	0.00
R5655:Actr3b	UTSW	5	26,053,366 (GRCm39)	missense	probably damaging	1.00
R6190:Actr3b	UTSW	5	26,036,688 (GRCm39)	missense	probably benign
R6761:Actr3b	UTSW	5	26,030,137 (GRCm39)	missense	probably damaging	1.00
R7003:Actr3b	UTSW	5	26,003,461 (GRCm39)	missense	probably damaging	1.00
R7043:Actr3b	UTSW	5	26,054,936 (GRCm39)	missense	probably benign	0.40
R7649:Actr3b	UTSW	5	26,053,364 (GRCm39)	missense	probably benign	0.05
R7897:Actr3b	UTSW	5	26,036,657 (GRCm39)	missense	probably benign	0.37
R8691:Actr3b	UTSW	5	26,030,202 (GRCm39)	missense	possibly damaging	0.94
R9647:Actr3b	UTSW	5	26,037,408 (GRCm39)	missense	probably benign
R9797:Actr3b	UTSW	5	26,054,895 (GRCm39)	missense	probably benign	0.00
RF049:Actr3b	UTSW	5	26,053,486 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTTTGCATCACTGGGAGCTGCC -3'
(R):5'- TCCCAAAGCTGATGATCCGAGGAG -3'

Sequencing Primer
(F):5'- TTCATTCTGTGGGAGCACACAG -3'
(R):5'- CAGGGTGCTAAGCCTTTTAGG -3'

Posted On

2014-04-24