Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4480001:Actn3'

554895

Institutional Source

Beutler Lab

Gene Symbol

Actn3

Ensembl Gene

ENSMUSG00000006457

Gene Name

actinin alpha 3

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4861223-4877909 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4867577 bp

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]

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
4932415D10Rik	T	C	10: 82,283,752	M4475V	probably benign	Het
Ahnak2	C	T	12: 112,773,924	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,062,365	E521G	probably damaging	Het
Baiap2	A	G	11: 119,997,087	T356A	probably benign	Het
Baz1b	G	A	5: 135,217,965	R756H	probably damaging	Het
Celsr1	G	A	15: 86,032,414	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,413	P196S	probably damaging	Het
Cln5	T	A	14: 103,071,778	Y89*	probably null	Het
Cntnap3	A	G	13: 64,757,210	F919S	probably damaging	Het
Cntrl	C	T	2: 35,155,428	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,253,592	S1037P	probably benign	Het
Col17a1	A	T	19: 47,671,374	S380T	probably benign	Het
Dagla	A	T	19: 10,260,658	S323T	probably benign	Het
Dicer1	G	T	12: 104,696,544	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,101,880	I2367V	probably benign	Het
Emc1	T	C	4: 139,359,277	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,471,415	S295N	probably benign	Het
Erbb4	A	T	1: 68,075,543	M914K	probably damaging	Het
Eva1a	A	G	6: 82,091,803	E37G	probably damaging	Het
Fam49b	G	A	15: 63,956,641	T11I	probably benign	Het
Fyco1	G	T	9: 123,828,650	Y820*	probably null	Het
Gipr	T	C	7: 19,162,934	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,627,746	V148A	probably damaging	Het
Gpn1	T	C	5: 31,497,341	V79A	probably damaging	Het
Grk2	G	A	19: 4,287,409	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,046,267	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,685,134	T579I	probably benign	Het
Kif15	A	T	9: 123,011,543	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,751,226	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,558,538	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,541,365	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,213,918	Q233R	probably benign	Het
Olfr1141	T	C	2: 87,753,783	D70G	possibly damaging	Het
Olfr738	T	C	14: 50,413,915	F124L	probably benign	Het
Paqr5	T	A	9: 61,956,156	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560	H379Y	unknown	Het
Phtf2	A	T	5: 20,813,244	I33N	probably damaging	Het
Plcb2	T	C	2: 118,723,496	M115V	probably benign	Het
Ppp2r3a	A	G	9: 101,126,377	Y431H	possibly damaging	Het
Prph2	GT	G	17: 46,911,113		probably null	Het
Psmd1	C	T	1: 86,128,238	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,297,340		probably null	Het
Rptn	A	G	3: 93,397,670	D770G	possibly damaging	Het
Serac1	A	G	17: 6,050,812	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,749,825		probably null	Het
Sox6	T	C	7: 115,597,509	I295M	probably benign	Het
Sulf1	T	A	1: 12,859,413	D301E	probably benign	Het
Tas2r117	G	A	6: 132,803,051	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,834,735	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955	I320V	probably benign	Het
Tjp3	C	A	10: 81,279,257	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,599,260	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 19,007,323	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,037,911	Y138F	probably benign	Het
Utp4	T	C	8: 106,906,185	S267P	probably benign	Het
Wnk1	A	T	6: 119,963,367	L803*	probably null	Het
Zbbx	T	A	3: 75,136,487	D35V	probably damaging	Het
Zscan12	T	G	13: 21,368,574	N189K	possibly damaging	Het

Other mutations in Actn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ballooned	UTSW	19	4871848	missense	probably damaging	1.00
bamboozled	UTSW	19	4871655	missense	probably damaging	1.00
confused	UTSW	19	4865440	missense	probably benign	0.09
R0128:Actn3	UTSW	19	4871615	missense	probably damaging	1.00
R1174:Actn3	UTSW	19	4864756	missense	probably damaging	1.00
R1181:Actn3	UTSW	19	4872610	missense	probably benign	0.07
R1239:Actn3	UTSW	19	4865455	unclassified	probably benign
R1445:Actn3	UTSW	19	4865455	unclassified	probably benign
R1698:Actn3	UTSW	19	4862207	missense	possibly damaging	0.55
R2127:Actn3	UTSW	19	4871675	missense	probably damaging	1.00
R4017:Actn3	UTSW	19	4867546	missense	possibly damaging	0.95
R4293:Actn3	UTSW	19	4865440	missense	probably benign	0.09
R4482:Actn3	UTSW	19	4863408	critical splice donor site	probably null
R4840:Actn3	UTSW	19	4864511	missense	probably damaging	1.00
R4868:Actn3	UTSW	19	4864454	missense	probably benign	0.24
R5152:Actn3	UTSW	19	4863544	missense	probably damaging	1.00
R5349:Actn3	UTSW	19	4867958	missense	possibly damaging	0.94
R5420:Actn3	UTSW	19	4865344	frame shift	probably null
R5448:Actn3	UTSW	19	4863211	missense	possibly damaging	0.94
R5563:Actn3	UTSW	19	4872316	missense	probably damaging	1.00
R5753:Actn3	UTSW	19	4864567	critical splice acceptor site	probably null
R6457:Actn3	UTSW	19	4871848	missense	probably damaging	1.00
R7236:Actn3	UTSW	19	4871616	missense	probably benign	0.07
R7470:Actn3	UTSW	19	4867814	missense	possibly damaging	0.87
R7980:Actn3	UTSW	19	4867922	missense	probably damaging	1.00
R8232:Actn3	UTSW	19	4871655	missense	probably damaging	1.00
R8348:Actn3	UTSW	19	4865333	missense	possibly damaging	0.61
R8421:Actn3	UTSW	19	4861713	missense	probably benign
R8754:Actn3	UTSW	19	4863460	missense	probably damaging	1.00

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