Incidental Mutation 'R3078:Myoz1'
ID 265305
Institutional Source Beutler Lab
Gene Symbol Myoz1
Ensembl Gene ENSMUSG00000068697
Gene Name myozenin 1
Synonyms 2310001N11Rik, FATZ, calsarcin-2
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3078 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20699175-20706608 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20703685 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 benign
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Alg10b T C 15: 90,112,139 (GRCm39) S328P probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Clca4a C T 3: 144,674,014 (GRCm39) M240I probably damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Dynlrb1 T A 2: 155,091,865 (GRCm39) I99N probably damaging Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null 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
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
R6682:Myoz1 UTSW 14 20,703,687 (GRCm39) splice site probably null
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'- GTCCAGAAAGCCCTCATTTCC -3'

Sequencing Primer
(F):5'- CACCCTAGACTGGTTGGGAATG -3'
(R):5'- GATTCTTCTCTACCTCCTGGATAAG -3'
Posted On 2015-02-05