Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Actn3'

21532

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R0128 (G1)

Quality Score

216

Status

Validated (trace)

Chromosome

Chromosomal Location

4911244-4927937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4921643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 179 (V179E)

Ref Sequence

ENSEMBL: ENSMUSP00000006626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006626]

AlphaFold

O88990

Predicted Effect

probably damaging
Transcript: ENSMUST00000006626
AA Change: V179E

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

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: V179E

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
CH	46	146	1.4e-23	SMART
CH	159	258	4.83e-27	SMART
low complexity region	261	272	N/A	INTRINSIC
Pfam:Spectrin	287	397	5.5e-15	PFAM
SPEC	410	511	3.78e-23	SMART
SPEC	525	632	2.37e-6	SMART
Pfam:Spectrin	643	746	4.1e-15	PFAM
EFh	763	791	7.93e-1	SMART
EFh	799	827	5.96e-1	SMART
efhand_Ca_insen	830	896	2.29e-34	SMART

Meta Mutation Damage Score

0.1254

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase mitochondria density and a shift from anaerobic to aerobic metabolism in fast muscle fiber that is associated with increased aerobic capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,602 (GRCm39)		probably benign	Het
Abcd4	T	G	12: 84,659,126 (GRCm39)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,445,492 (GRCm39)	G178C	probably damaging	Het
Actl6b	A	G	5: 137,553,327 (GRCm39)	N113S	probably benign	Het
Aff4	C	A	11: 53,306,293 (GRCm39)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,241,067 (GRCm39)	Q431*	probably null	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Asap3	C	A	4: 135,961,915 (GRCm39)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,790,248 (GRCm39)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
C87436	G	A	6: 86,446,809 (GRCm39)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,364,182 (GRCm39)	I314N	probably damaging	Het
Ccs	A	G	19: 4,875,654 (GRCm39)	F237S	probably damaging	Het
Ccz1	T	G	5: 143,946,112 (GRCm39)		probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,613,829 (GRCm39)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,368,932 (GRCm39)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dlg1	G	T	16: 31,676,883 (GRCm39)		probably null	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Ergic3	C	A	2: 155,853,060 (GRCm39)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,694,129 (GRCm39)		probably benign	Het
Gm4787	T	A	12: 81,424,521 (GRCm39)	K546*	probably null	Het
Gm6576	C	G	15: 27,026,086 (GRCm39)		noncoding transcript	Het
Got1	C	T	19: 43,512,816 (GRCm39)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,681,247 (GRCm39)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,487,306 (GRCm39)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,448,170 (GRCm39)		probably benign	Het
Kctd1	G	A	18: 15,107,237 (GRCm39)	P743S	probably benign	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Krt24	T	C	11: 99,171,093 (GRCm39)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Lipo3	C	T	19: 33,534,506 (GRCm39)		probably null	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,466,950 (GRCm39)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,438,587 (GRCm39)	V15A	probably benign	Het
Narf	C	T	11: 121,141,662 (GRCm39)	R356C	probably damaging	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 103,810,133 (GRCm39)	A76V	probably benign	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or52p1	A	T	7: 104,267,788 (GRCm39)	I301F	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Palb2	A	T	7: 121,727,389 (GRCm39)	Y160*	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pdcd11	G	A	19: 47,108,301 (GRCm39)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,157,813 (GRCm39)		probably benign	Het
Prr12	A	G	7: 44,699,463 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,723,457 (GRCm39)	*320W	probably null	Het
Sft2d1rt	A	G	11: 45,943,120 (GRCm39)	M1T	probably null	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,665,693 (GRCm39)	M519V	probably benign	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,984,365 (GRCm39)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,054,693 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,226,957 (GRCm39)	D19G	possibly damaging	Het

Other mutations in Actn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ballooned	UTSW	19	4,921,876 (GRCm39)	missense	probably damaging	1.00
bamboozled	UTSW	19	4,921,683 (GRCm39)	missense	probably damaging	1.00
confused	UTSW	19	4,915,468 (GRCm39)	missense	probably benign	0.09
PIT4480001:Actn3	UTSW	19	4,917,605 (GRCm39)	nonsense	probably null
R1174:Actn3	UTSW	19	4,914,784 (GRCm39)	missense	probably damaging	1.00
R1181:Actn3	UTSW	19	4,922,638 (GRCm39)	missense	probably benign	0.07
R1239:Actn3	UTSW	19	4,915,483 (GRCm39)	unclassified	probably benign
R1445:Actn3	UTSW	19	4,915,483 (GRCm39)	unclassified	probably benign
R1698:Actn3	UTSW	19	4,912,235 (GRCm39)	missense	possibly damaging	0.55
R2127:Actn3	UTSW	19	4,921,703 (GRCm39)	missense	probably damaging	1.00
R4017:Actn3	UTSW	19	4,917,574 (GRCm39)	missense	possibly damaging	0.95
R4293:Actn3	UTSW	19	4,915,468 (GRCm39)	missense	probably benign	0.09
R4482:Actn3	UTSW	19	4,913,436 (GRCm39)	critical splice donor site	probably null
R4840:Actn3	UTSW	19	4,914,539 (GRCm39)	missense	probably damaging	1.00
R4868:Actn3	UTSW	19	4,914,482 (GRCm39)	missense	probably benign	0.24
R5152:Actn3	UTSW	19	4,913,572 (GRCm39)	missense	probably damaging	1.00
R5349:Actn3	UTSW	19	4,917,986 (GRCm39)	missense	possibly damaging	0.94
R5420:Actn3	UTSW	19	4,915,372 (GRCm39)	frame shift	probably null
R5448:Actn3	UTSW	19	4,913,239 (GRCm39)	missense	possibly damaging	0.94
R5563:Actn3	UTSW	19	4,922,344 (GRCm39)	missense	probably damaging	1.00
R5753:Actn3	UTSW	19	4,914,595 (GRCm39)	critical splice acceptor site	probably null
R6457:Actn3	UTSW	19	4,921,876 (GRCm39)	missense	probably damaging	1.00
R7236:Actn3	UTSW	19	4,921,644 (GRCm39)	missense	probably benign	0.07
R7470:Actn3	UTSW	19	4,917,842 (GRCm39)	missense	possibly damaging	0.87
R7980:Actn3	UTSW	19	4,917,950 (GRCm39)	missense	probably damaging	1.00
R8232:Actn3	UTSW	19	4,921,683 (GRCm39)	missense	probably damaging	1.00
R8348:Actn3	UTSW	19	4,915,361 (GRCm39)	missense	possibly damaging	0.61
R8421:Actn3	UTSW	19	4,911,741 (GRCm39)	missense	probably benign
R8754:Actn3	UTSW	19	4,913,488 (GRCm39)	missense	probably damaging	1.00
R8803:Actn3	UTSW	19	4,914,691 (GRCm39)	missense	probably benign	0.11
R8937:Actn3	UTSW	19	4,921,798 (GRCm39)	critical splice donor site	probably null
R9212:Actn3	UTSW	19	4,914,565 (GRCm39)	missense	probably benign	0.39
R9255:Actn3	UTSW	19	4,921,820 (GRCm39)	missense	probably damaging	1.00
R9300:Actn3	UTSW	19	4,921,656 (GRCm39)	missense	probably benign	0.17
R9534:Actn3	UTSW	19	4,913,477 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGGATGTCACAACTGCTCCTTGC -3'
(R):5'- ACAAAGGTCTGGAGTCCAACCCTG -3'

Sequencing Primer
(F):5'- GGAAGTGTTCTGCAACCCC -3'
(R):5'- GGCATGATCTGGACCATCATC -3'

Posted On

2013-04-11