Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Myoz3'

618266

Institutional Source

Beutler Lab

Gene Symbol

Myoz3

Ensembl Gene

ENSMUSG00000049173

Gene Name

myozenin 3

Synonyms

calsarcin-3, 4833419K08Rik, Fatz-3

MMRRC Submission

067473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60706822-60724860 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 60713922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056533]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000056533

SMART Domains

Protein: ENSMUSP00000063108
Gene: ENSMUSG00000049173

Domain	Start	End	E-Value	Type
Pfam:Calsarcin	1	244	1.6e-36	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,236,818 (GRCm39)	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,120,397 (GRCm39)	C3604*	probably null	Het
Alas1	A	G	9: 106,112,721 (GRCm39)	I545T	probably benign	Het
Anpep	A	C	7: 79,491,646 (GRCm39)	D118E	probably benign	Het
Arhgef17	A	T	7: 100,579,062 (GRCm39)	S629T	probably damaging	Het
Arid2	C	T	15: 96,266,625 (GRCm39)	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,184,056 (GRCm39)	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,804,897 (GRCm39)	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 134,945,609 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,165,122 (GRCm39)	I1062V	probably benign	Het
Decr2	A	G	17: 26,301,962 (GRCm39)	L256P	probably damaging	Het
Dhx37	T	C	5: 125,501,739 (GRCm39)	M507V	probably benign	Het
Disp1	A	G	1: 182,870,803 (GRCm39)	I539T	probably damaging	Het
Dqx1	T	A	6: 83,036,788 (GRCm39)	V264E	probably damaging	Het
Enpp4	A	G	17: 44,413,136 (GRCm39)	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,802,048 (GRCm39)	T476A	probably benign	Het
Fam20b	A	G	1: 156,533,407 (GRCm39)	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,728,566 (GRCm39)	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,280,720 (GRCm39)	L405P	probably damaging	Het
Fn1	G	A	1: 71,629,310 (GRCm39)	Q2399*	probably null	Het
Foxa2	G	C	2: 147,885,909 (GRCm39)	T308S	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm10521	A	G	1: 171,723,752 (GRCm39)	D21G	unknown	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Herpud1	A	G	8: 95,119,014 (GRCm39)	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kctd13	A	G	7: 126,528,414 (GRCm39)	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,519,809 (GRCm39)	D125Y	probably damaging	Het
Luzp2	A	G	7: 54,724,823 (GRCm39)	D128G	probably damaging	Het
Lyve1	A	G	7: 110,458,649 (GRCm39)	C105R	probably damaging	Het
Mlkl	A	T	8: 112,060,086 (GRCm39)	V100E	probably damaging	Het
Muc5b	T	C	7: 141,421,478 (GRCm39)	S4323P	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,864 (GRCm39)	N906Y	possibly damaging	Het
Odad1	A	G	7: 45,592,276 (GRCm39)	D352G	probably benign	Het
Or10x4	A	G	1: 174,219,382 (GRCm39)	H249R	probably damaging	Het
Or51f23	A	T	7: 102,452,763 (GRCm39)	H26L	possibly damaging	Het
Or8b49	T	C	9: 38,506,186 (GRCm39)	F223S	probably benign	Het
Or8w1	C	T	2: 87,465,847 (GRCm39)	M81I	probably benign	Het
Pcsk9	G	A	4: 106,311,536 (GRCm39)	H232Y	possibly damaging	Het
Plec	A	G	15: 76,063,380 (GRCm39)	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,058,205 (GRCm39)	T47S	probably damaging	Het
Rab8a	A	T	8: 72,928,439 (GRCm39)	I106F	probably damaging	Het
Relch	A	T	1: 105,605,902 (GRCm39)	I181F	probably damaging	Het
Ros1	A	T	10: 52,041,439 (GRCm39)	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,992,098 (GRCm39)	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spata20	T	G	11: 94,369,963 (GRCm39)	I778L	probably benign	Het
Taar1	A	T	10: 23,797,033 (GRCm39)	T244S	probably benign	Het
Tmem229b	C	A	12: 79,011,862 (GRCm39)	C23F	probably damaging	Het
Ttll4	A	G	1: 74,718,389 (GRCm39)	Y80C	probably benign	Het
Ube2m	G	A	7: 12,769,566 (GRCm39)	T176I	probably benign	Het
Zfp790	G	A	7: 29,528,346 (GRCm39)	A344T	possibly damaging	Het
Zfp90	G	A	8: 107,145,760 (GRCm39)	V31M	probably benign	Het
Zswim4	C	T	8: 84,949,918 (GRCm39)	R659Q	probably benign	Het

Other mutations in Myoz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0243:Myoz3	UTSW	18	60,712,023 (GRCm39)	missense	probably damaging	1.00
R1564:Myoz3	UTSW	18	60,713,914 (GRCm39)	missense	probably benign	0.00
R2174:Myoz3	UTSW	18	60,723,296 (GRCm39)	missense	probably benign	0.00
R5708:Myoz3	UTSW	18	60,712,104 (GRCm39)	missense	probably damaging	1.00
R5734:Myoz3	UTSW	18	60,712,543 (GRCm39)	missense	possibly damaging	0.50
R6530:Myoz3	UTSW	18	60,712,592 (GRCm39)	splice site	probably null
R6665:Myoz3	UTSW	18	60,709,495 (GRCm39)	missense	probably damaging	1.00
R7162:Myoz3	UTSW	18	60,709,485 (GRCm39)	missense	probably damaging	1.00
R8350:Myoz3	UTSW	18	60,712,074 (GRCm39)	missense	probably damaging	1.00
R8450:Myoz3	UTSW	18	60,712,074 (GRCm39)	missense	probably damaging	1.00
R9684:Myoz3	UTSW	18	60,712,026 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CAGTGCATAATCTAATGGGTGCAC -3'
(R):5'- GTACCCTTTCTGCCAATCAAAGG -3'

Sequencing Primer
(F):5'- TGCATAATCTAATGGGTGCACAAAAG -3'
(R):5'- CCAATCAAAGGCAGGGGAGTG -3'

Posted On

2020-01-23