Mutagenetix > Incidental Mutation

Incidental Mutation 'R5734:Myoz3'

451615

Institutional Source

Beutler Lab

Gene Symbol

Myoz3

Ensembl Gene

ENSMUSG00000049173

Gene Name

myozenin 3

Synonyms

calsarcin-3, 4833419K08Rik, Fatz-3

MMRRC Submission

043348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60706822-60724860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60712543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 104 (T104M)

Ref Sequence

ENSEMBL: ENSMUSP00000063108 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056533
AA Change: T104M

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063108
Gene: ENSMUSG00000049173
AA Change: T104M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (61/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,215,303 (GRCm39)		probably benign	Het
Abcc9	A	G	6: 142,571,457 (GRCm39)		probably benign	Het
Adamts2	G	A	11: 50,679,494 (GRCm39)	G825R	probably damaging	Het
Adgre1	A	T	17: 57,750,990 (GRCm39)	R555W	probably benign	Het
Apob	T	A	12: 8,038,781 (GRCm39)	V398D	probably damaging	Het
Arid4b	A	G	13: 14,334,856 (GRCm39)	N355S	probably benign	Het
Asb3	G	T	11: 30,979,021 (GRCm39)	D143Y	probably damaging	Het
Birc6	G	A	17: 74,925,419 (GRCm39)		probably benign	Het
Cacna1a	A	G	8: 85,310,360 (GRCm39)	M1425V	probably damaging	Het
Capn9	A	G	8: 125,332,583 (GRCm39)	E474G	probably damaging	Het
Capza2	T	C	6: 17,660,764 (GRCm39)	S155P	probably damaging	Het
Ccdc125	A	G	13: 100,823,622 (GRCm39)	N202S	possibly damaging	Het
Ccn1	A	G	3: 145,354,023 (GRCm39)	C256R	probably damaging	Het
Chrm5	T	A	2: 112,310,445 (GRCm39)	T224S	probably benign	Het
Chtop	C	T	3: 90,409,422 (GRCm39)		probably null	Het
Clip1	T	C	5: 123,753,217 (GRCm39)		probably benign	Het
Dbx2	T	C	15: 95,552,604 (GRCm39)	T14A	possibly damaging	Het
Dcaf8	T	C	1: 172,000,478 (GRCm39)	V212A	possibly damaging	Het
Fam114a1	T	C	5: 65,166,389 (GRCm39)	M240T	probably damaging	Het
Fat1	T	C	8: 45,504,246 (GRCm39)	Y4580H	probably damaging	Het
Glipr1	G	A	10: 111,821,698 (GRCm39)	R200*	probably null	Het
Gm6408	A	T	5: 146,419,192 (GRCm39)	Y69F	probably benign	Het
Gpt2	T	C	8: 86,249,885 (GRCm39)	S456P	probably benign	Het
Kat8	T	C	7: 127,519,751 (GRCm39)	F225S	probably benign	Het
Lactb2	T	A	1: 13,730,611 (GRCm39)	N22Y	probably damaging	Het
Lin28a	A	T	4: 133,735,284 (GRCm39)	C67*	probably null	Het
Mtarc2	T	C	1: 184,564,786 (GRCm39)	E155G	probably benign	Het
Nek9	C	T	12: 85,350,289 (GRCm39)	M928I	probably benign	Het
Nlrp9a	G	C	7: 26,270,065 (GRCm39)	A831P	probably damaging	Het
Nop53	T	C	7: 15,679,887 (GRCm39)		probably null	Het
Ofcc1	T	A	13: 40,241,325 (GRCm39)	T728S	probably damaging	Het
Pabpc4l	T	A	3: 46,401,124 (GRCm39)		probably null	Het
Rbm34	T	C	8: 127,696,880 (GRCm39)		probably null	Het
Relch	T	C	1: 105,631,608 (GRCm39)		probably benign	Het
Robo2	C	T	16: 74,149,672 (GRCm39)	C52Y	probably damaging	Het
Rpgr	G	A	X: 10,032,511 (GRCm39)	P857L	probably benign	Het
Scn2a	A	G	2: 65,548,066 (GRCm39)	Y57C	possibly damaging	Het
Selp	C	T	1: 163,971,460 (GRCm39)		probably benign	Het
Skp2	T	C	15: 9,139,566 (GRCm39)	D43G	possibly damaging	Het
Smad5	T	A	13: 56,871,617 (GRCm39)	S71T	probably damaging	Het
Sorcs1	G	T	19: 50,171,213 (GRCm39)	H892N	probably benign	Het
Sox6	C	T	7: 115,140,856 (GRCm39)		probably null	Het
St3gal1	A	T	15: 66,978,522 (GRCm39)	I333N	probably damaging	Het
Tex15	C	A	8: 34,036,364 (GRCm39)	Q97K	probably benign	Het
Tnxb	A	T	17: 34,917,884 (GRCm39)	T2266S	possibly damaging	Het
Tpbgl	C	A	7: 99,274,949 (GRCm39)	G303C	probably damaging	Het
Trat1	A	T	16: 48,555,304 (GRCm39)	S143T	possibly damaging	Het
Trpm8	T	A	1: 88,283,002 (GRCm39)	V763E	probably benign	Het
Ttc21a	G	A	9: 119,795,732 (GRCm39)	D1189N	probably benign	Het
Usp7	T	C	16: 8,519,845 (GRCm39)	N178D	possibly damaging	Het
Zfp217	T	C	2: 169,961,064 (GRCm39)	D421G	possibly damaging	Het
Zfp382	T	C	7: 29,833,855 (GRCm39)	F502S	probably damaging	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
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
R8036:Myoz3	UTSW	18	60,713,922 (GRCm39)	critical splice acceptor site	probably null
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'- TGTAACCAATCGAGGCTGC -3'
(R):5'- AATGGTCAAATCCCAGCCTC -3'

Sequencing Primer
(F):5'- CAATCGAGGCTGCTTGCTGAG -3'
(R):5'- CACAGATCCTGGCGAGTAGTG -3'

Posted On

2017-01-03