Incidental Mutation 'R1029:Myoz1'
Institutional Source Beutler Lab
Gene Symbol Myoz1
Ensembl Gene ENSMUSG00000068697
Gene Namemyozenin 1
Synonyms2310001N11Rik, FATZ, calsarcin-2
MMRRC Submission 039131-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1029 (G1)
Quality Score225
Status Validated
Chromosomal Location20649107-20656540 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20650532 bp
Amino Acid Change Tyrosine to Histidine at position 206 (Y206H)
Ref Sequence ENSEMBL: ENSMUSP00000087955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090469]
Predicted Effect probably damaging
Transcript: ENSMUST00000090469
AA Change: Y206H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697
AA Change: Y206H

Pfam:Calsarcin 1 296 1.9e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225231
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 92% (36/39)
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 primarily 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]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight and fast-twitch muscle mass, a fiber type shift toward more oxidative fibers, increased exercise capacity and calcineurin activity, and enhanced muscle regeneration after cardiotoxin injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C T 5: 5,455,919 A121T probably benign Het
4930505A04Rik A G 11: 30,426,177 L230S probably damaging Het
4930505A04Rik A G 11: 30,446,389 probably benign Het
Atg2b A G 12: 105,635,773 I1648T probably damaging Het
Ccdc110 T C 8: 45,941,780 F236S probably damaging Het
Ccdc178 T C 18: 22,097,725 D363G possibly damaging Het
Cntn5 T A 9: 9,831,572 D601V probably damaging Het
Cog7 C T 7: 121,930,529 probably null Het
Dnah7c A G 1: 46,612,721 K1365E probably damaging Het
Dock9 T C 14: 121,599,684 probably null Het
Ehd3 T A 17: 73,816,326 I108N probably benign Het
Erbb4 A G 1: 68,309,614 S535P probably damaging Het
Fam170a T C 18: 50,281,674 V129A probably damaging Het
Gfra3 T C 18: 34,690,839 T361A probably benign Het
Gm10295 A T 7: 71,350,700 I44K unknown Het
Gm10553 T C 1: 85,100,449 S96P probably benign Het
Gm21738 T A 14: 19,415,957 Y194F probably benign Het
Hspa13 A T 16: 75,765,237 Y25N probably damaging Het
Lrfn3 G A 7: 30,355,922 P533S probably damaging Het
Lrp4 A G 2: 91,487,027 probably benign Het
Mical3 T C 6: 120,934,678 D1991G probably benign Het
Olfr521 A T 7: 99,767,224 I21F probably benign Het
Otog A G 7: 46,274,595 E1126G probably damaging Het
Prkdc A G 16: 15,654,749 probably benign Het
Rab7 A G 6: 88,013,642 S17P probably damaging Het
Slc35e1 T C 8: 72,492,571 probably benign Het
Sppl2a A G 2: 126,923,594 S203P probably benign Het
Taar7a A G 10: 23,992,541 I314T possibly damaging Het
Tgs1 T C 4: 3,593,471 I453T probably damaging Het
Tmem117 C A 15: 95,011,336 T210N probably benign Het
Trim55 A G 3: 19,644,742 N45S probably damaging Het
Ugt2b34 G C 5: 86,904,387 S250* probably null Het
Vmn2r67 G A 7: 85,136,766 T677I probably damaging Het
Zfp335 C G 2: 164,892,678 probably benign Het
Znrf1 T A 8: 111,537,354 Y72N probably damaging Het
Other mutations in Myoz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Myoz1 APN 14 20655309 missense probably damaging 0.98
R0081:Myoz1 UTSW 14 20649554 missense probably benign 0.08
R0826:Myoz1 UTSW 14 20653611 splice site probably benign
R0893:Myoz1 UTSW 14 20651184 missense probably benign 0.16
R3078:Myoz1 UTSW 14 20653617 splice site probably benign
R4584:Myoz1 UTSW 14 20650595 missense probably damaging 1.00
R4585:Myoz1 UTSW 14 20650595 missense probably damaging 1.00
R4586:Myoz1 UTSW 14 20650595 missense probably damaging 1.00
R4830:Myoz1 UTSW 14 20655309 missense probably damaging 0.98
R4912:Myoz1 UTSW 14 20649538 missense probably damaging 1.00
R5001:Myoz1 UTSW 14 20653701 missense probably damaging 0.99
R5015:Myoz1 UTSW 14 20653719 missense probably benign 0.42
R5120:Myoz1 UTSW 14 20650654 missense probably benign 0.00
R6682:Myoz1 UTSW 14 20653619 splice site probably null
R7097:Myoz1 UTSW 14 20649409 missense possibly damaging 0.92
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-01-05