Incidental Mutation 'R6682:Myoz1'
ID 527553
Institutional Source Beutler Lab
Gene Symbol Myoz1
Ensembl Gene ENSMUSG00000068697
Gene Name myozenin 1
Synonyms 2310001N11Rik, FATZ, calsarcin-2
MMRRC Submission 044801-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20699175-20706608 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 20703687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090469]
AlphaFold Q9JK37
Predicted Effect probably null
Transcript: ENSMUST00000090469
SMART Domains Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,460 (GRCm39) V368A possibly damaging Het
Bcl9l A G 9: 44,412,400 (GRCm39) T92A possibly damaging Het
Celsr2 A T 3: 108,307,817 (GRCm39) probably null Het
Cndp2 T C 18: 84,695,455 (GRCm39) K149E probably benign Het
Cnpy4 T C 5: 138,185,984 (GRCm39) probably null Het
Cox6c A T 15: 35,938,319 (GRCm39) probably null Het
Cpt2 G T 4: 107,761,627 (GRCm39) S158R probably damaging Het
Dlgap1 A G 17: 71,094,118 (GRCm39) K813R probably damaging Het
Dock10 A C 1: 80,490,338 (GRCm39) L1927R probably damaging Het
Gak T A 5: 108,746,742 (GRCm39) K430I probably damaging Het
Grik3 T A 4: 125,544,259 (GRCm39) Y327N probably damaging Het
Ldb3 T A 14: 34,274,221 (GRCm39) T334S possibly damaging Het
Ldlr A G 9: 21,643,671 (GRCm39) D85G probably benign Het
Med26 T A 8: 73,249,927 (GRCm39) T391S probably benign Het
Mmp27 A G 9: 7,573,606 (GRCm39) T233A probably benign Het
Mob1a A G 6: 83,311,132 (GRCm39) Y117C possibly damaging Het
Mrps35 A T 6: 146,949,777 (GRCm39) E97V possibly damaging Het
Msln A T 17: 25,971,993 (GRCm39) S75T probably damaging Het
Nim1k A G 13: 120,173,724 (GRCm39) I390T probably benign Het
Or10k2 A G 8: 84,268,187 (GRCm39) H138R probably benign Het
Or4k51 C T 2: 111,584,980 (GRCm39) P129S probably damaging Het
Pclo A C 5: 14,589,893 (GRCm39) Q731P unknown Het
Prl3d3 G A 13: 27,345,023 (GRCm39) E132K probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Ptpru T C 4: 131,548,093 (GRCm39) M135V probably benign Het
Slc12a9 A T 5: 137,325,663 (GRCm39) L316Q probably damaging Het
Slc35f6 G A 5: 30,814,764 (GRCm39) M177I possibly damaging Het
Smc4 T A 3: 68,914,574 (GRCm39) S62R probably damaging Het
Tmem179 C T 12: 112,469,714 (GRCm39) D29N probably benign Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Trpc4ap C T 2: 155,479,687 (GRCm39) probably null Het
Trpm8 C A 1: 88,254,224 (GRCm39) T149K probably damaging Het
Uhmk1 C T 1: 170,039,804 (GRCm39) probably null Het
Vmn2r79 C A 7: 86,653,370 (GRCm39) T545K possibly damaging Het
Vmn2r95 C A 17: 18,660,489 (GRCm39) N300K probably damaging Het
Wdr41 G A 13: 95,149,639 (GRCm39) G419D probably damaging Het
Zc3hav1 A T 6: 38,302,130 (GRCm39) H597Q probably benign Het
Zfp704 T C 3: 9,630,253 (GRCm39) E36G probably benign Het
Zfp9 A G 6: 118,444,202 (GRCm39) V47A possibly damaging Het
Other mutations in Myoz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Myoz1 APN 14 20,705,377 (GRCm39) missense probably damaging 0.98
R0081:Myoz1 UTSW 14 20,699,622 (GRCm39) missense probably benign 0.08
R0826:Myoz1 UTSW 14 20,703,679 (GRCm39) splice site probably benign
R0893:Myoz1 UTSW 14 20,701,252 (GRCm39) missense probably benign 0.16
R1029:Myoz1 UTSW 14 20,700,600 (GRCm39) missense probably damaging 1.00
R3078:Myoz1 UTSW 14 20,703,685 (GRCm39) splice site probably benign
R4584:Myoz1 UTSW 14 20,700,663 (GRCm39) missense probably damaging 1.00
R4585:Myoz1 UTSW 14 20,700,663 (GRCm39) missense probably damaging 1.00
R4586:Myoz1 UTSW 14 20,700,663 (GRCm39) missense probably damaging 1.00
R4830:Myoz1 UTSW 14 20,705,377 (GRCm39) missense probably damaging 0.98
R4912:Myoz1 UTSW 14 20,699,606 (GRCm39) missense probably damaging 1.00
R5001:Myoz1 UTSW 14 20,703,769 (GRCm39) missense probably damaging 0.99
R5015:Myoz1 UTSW 14 20,703,787 (GRCm39) missense probably benign 0.42
R5120:Myoz1 UTSW 14 20,700,722 (GRCm39) missense probably benign 0.00
R7097:Myoz1 UTSW 14 20,699,477 (GRCm39) missense possibly damaging 0.92
R9400:Myoz1 UTSW 14 20,699,504 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGGACTGTTACCCACCCTAGAC -3'
(R):5'- TCCAGAAAGCCCTCATTTCC -3'

Sequencing Primer
(F):5'- CACCCTAGACTGGTTGGGAATG -3'
(R):5'- GATTCTTCTCTACCTCCTGGATAAG -3'
Posted On 2018-07-23