Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Actn3'

554895

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4911244-4927937 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4917605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 413 (Q413*)

Ref Sequence

ENSEMBL: ENSMUSP00000006626 (fasta)

Gene Model

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

AlphaFold

O88990

Predicted Effect

probably null
Transcript: ENSMUST00000006626
AA Change: Q413*

SMART Domains

Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: Q413*

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

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,210,484 (GRCm39)	E521G	probably damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Eva1a	A	G	6: 82,068,784 (GRCm39)	E37G	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,361,731 (GRCm39)	Q233R	probably benign	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,725,561 (GRCm39)	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Utp4	T	C	8: 107,632,817 (GRCm39)	S267P	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	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
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
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'- TTGCATAGCAACAAGTCAGGATG -3'
(R):5'- TTCCCATCTGCATAACGGGTG -3'

Sequencing Primer
(F):5'- GACTCTGCCTGGTCTACATAAGG -3'
(R):5'- TGAACCGTGATGGAGGCCAC -3'

Posted On

2019-06-07