Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Actn3'

516557

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

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

Stock #

R6457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4911244-4927937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4921876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

Ref Sequence

ENSEMBL: ENSMUSP00000006626 (fasta)

Gene Model

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

AlphaFold

O88990

Predicted Effect

probably damaging
Transcript: ENSMUST00000006626
AA Change: D130G

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

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: D130G

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

0.2681

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Cox18	A	G	5: 90,371,548 (GRCm39)	I84T	probably benign	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Hcn2	G	T	10: 79,569,607 (GRCm39)	E536*	probably null	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Ret	A	G	6: 118,150,582 (GRCm39)	F645L	probably benign	Het
Saxo5	T	C	8: 3,529,268 (GRCm39)	L251P	probably damaging	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Uvrag	A	G	7: 98,555,726 (GRCm39)	F456S	probably damaging	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	probably 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
R0128:Actn3	UTSW	19	4,921,643 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTTCCGCTGACACCAGAG -3'
(R):5'- ATCACTAGCTGTCTGCCGTG -3'

Sequencing Primer
(F):5'- CGCTGACACCAGAGAAGCAAG -3'
(R):5'- CGTGTGCTTCTTAGGCATCACTAG -3'

Posted On

2018-05-21