Incidental Mutation 'R5322:Myot'
ID 404934
Institutional Source Beutler Lab
Gene Symbol Myot
Ensembl Gene ENSMUSG00000024471
Gene Name myotilin
Synonyms 5530402I04Rik, Ttid
MMRRC Submission 042905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5322 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44467141-44488791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44487216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 351 (F351S)
Ref Sequence ENSEMBL: ENSMUSP00000111160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025349] [ENSMUST00000115498]
AlphaFold Q9JIF9
Predicted Effect probably benign
Transcript: ENSMUST00000025349
AA Change: F351S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: F351S

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
IG 254 339 5.84e-5 SMART
IGc2 359 428 5.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115498
AA Change: F351S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: F351S

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
IG 254 339 5.84e-5 SMART
IGc2 359 428 5.53e-6 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C T 5: 89,855,159 (GRCm39) probably null Het
Ankar T C 1: 72,729,545 (GRCm39) probably null Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Appbp2 A G 11: 85,086,890 (GRCm39) probably null Het
Arvcf T C 16: 18,215,508 (GRCm39) M176T probably benign Het
Cachd1 T C 4: 100,809,319 (GRCm39) I268T probably damaging Het
Ccdc66 A G 14: 27,204,484 (GRCm39) S933P probably damaging Het
Cfi C T 3: 129,666,689 (GRCm39) P471S probably damaging Het
Ckmt2 G T 13: 92,009,891 (GRCm39) T143K possibly damaging Het
Cnksr3 A T 10: 7,085,078 (GRCm39) D15E probably damaging Het
Copb2 A T 9: 98,468,029 (GRCm39) K680N probably benign Het
D2hgdh T C 1: 93,757,620 (GRCm39) probably null Het
Dcn A T 10: 97,353,464 (GRCm39) T338S probably benign Het
Dipk2a A G 9: 94,402,615 (GRCm39) I349T probably benign Het
Dnah10 G A 5: 124,850,630 (GRCm39) G1644D probably damaging Het
Dnah5 A G 15: 28,384,390 (GRCm39) I3045V probably benign Het
Dock3 G A 9: 106,779,028 (GRCm39) T307I probably benign Het
Dock5 A T 14: 68,007,715 (GRCm39) I1498N probably benign Het
Emc1 A T 4: 139,081,557 (GRCm39) N62Y probably damaging Het
Enpp6 C A 8: 47,521,950 (GRCm39) H295N probably benign Het
Epha10 A G 4: 124,779,541 (GRCm39) Y129C probably damaging Het
Fbn2 A T 18: 58,172,387 (GRCm39) D2139E probably benign Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fignl1 A T 11: 11,751,571 (GRCm39) F495I probably damaging Het
Gm43302 C T 5: 105,365,347 (GRCm39) A554T probably benign Het
Gpr157 A G 4: 150,183,309 (GRCm39) N160D probably benign Het
Il1rn G A 2: 24,238,641 (GRCm39) probably null Het
Kctd13 T A 7: 126,528,378 (GRCm39) L51Q probably damaging Het
Kndc1 T C 7: 139,516,722 (GRCm39) F1561L probably damaging Het
Mast2 A G 4: 116,190,608 (GRCm39) probably null Het
Mib1 A G 18: 10,792,975 (GRCm39) H637R probably damaging Het
Moxd1 A T 10: 24,120,151 (GRCm39) N93I possibly damaging Het
Mycbp2 T C 14: 103,423,119 (GRCm39) probably null Het
N4bp2 T A 5: 65,947,800 (GRCm39) N143K possibly damaging Het
Or10ac1 T C 6: 42,515,950 (GRCm39) D2G probably benign Het
Or2ah1 T A 2: 85,653,531 (GRCm39) I72N probably damaging Het
Or51b6b T C 7: 103,309,879 (GRCm39) I193V possibly damaging Het
Or52a20 T A 7: 103,366,319 (GRCm39) W173R probably benign Het
Or52n2 C T 7: 104,542,371 (GRCm39) V155I probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Or8b52 T A 9: 38,576,502 (GRCm39) I213L probably benign Het
Patl1 C T 19: 11,898,223 (GRCm39) R134* probably null Het
Paxbp1 T C 16: 90,812,050 (GRCm39) I887V probably benign Het
Pi4kb G A 3: 94,901,560 (GRCm39) R436Q probably benign Het
Pla2g3 A G 11: 3,438,686 (GRCm39) E112G probably benign Het
Ppp2r2a A G 14: 67,276,322 (GRCm39) probably null Het
Rela T A 19: 5,695,408 (GRCm39) S311R possibly damaging Het
Sidt1 T A 16: 44,101,985 (GRCm39) probably benign Het
Smco2 T C 6: 146,772,785 (GRCm39) L329P probably damaging Het
Speer4f1 A T 5: 17,682,347 (GRCm39) I77F possibly damaging Het
Tex14 A G 11: 87,402,298 (GRCm39) I462V probably benign Het
Tmem260 C T 14: 48,724,306 (GRCm39) R385W probably damaging Het
Trrap T C 5: 144,781,034 (GRCm39) V2974A probably damaging Het
Usp47 C T 7: 111,652,476 (GRCm39) T31I probably damaging Het
Zc2hc1a A G 3: 7,616,481 (GRCm39) N247S probably benign Het
Zeb2 A C 2: 44,887,107 (GRCm39) M582R probably damaging Het
Other mutations in Myot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Myot APN 18 44,470,181 (GRCm39) missense possibly damaging 0.85
IGL02117:Myot APN 18 44,488,177 (GRCm39) missense probably benign 0.36
IGL02812:Myot APN 18 44,479,127 (GRCm39) missense probably damaging 1.00
R0178:Myot UTSW 18 44,470,053 (GRCm39) missense probably damaging 1.00
R1512:Myot UTSW 18 44,475,422 (GRCm39) missense probably damaging 1.00
R1620:Myot UTSW 18 44,470,125 (GRCm39) missense possibly damaging 0.48
R2140:Myot UTSW 18 44,487,192 (GRCm39) missense possibly damaging 0.53
R2234:Myot UTSW 18 44,487,339 (GRCm39) missense probably damaging 0.98
R2235:Myot UTSW 18 44,487,339 (GRCm39) missense probably damaging 0.98
R2568:Myot UTSW 18 44,470,283 (GRCm39) missense probably benign 0.02
R3702:Myot UTSW 18 44,487,162 (GRCm39) splice site probably null
R4967:Myot UTSW 18 44,487,995 (GRCm39) missense possibly damaging 0.68
R5154:Myot UTSW 18 44,487,281 (GRCm39) missense probably benign
R5250:Myot UTSW 18 44,479,137 (GRCm39) missense probably damaging 1.00
R7110:Myot UTSW 18 44,474,453 (GRCm39) missense probably damaging 1.00
R7385:Myot UTSW 18 44,470,075 (GRCm39) nonsense probably null
R7529:Myot UTSW 18 44,479,240 (GRCm39) nonsense probably null
R7899:Myot UTSW 18 44,487,251 (GRCm39) missense probably benign 0.01
R8006:Myot UTSW 18 44,487,904 (GRCm39) missense probably damaging 1.00
R8179:Myot UTSW 18 44,487,197 (GRCm39) nonsense probably null
R8296:Myot UTSW 18 44,475,416 (GRCm39) missense probably damaging 1.00
R8367:Myot UTSW 18 44,470,166 (GRCm39) missense probably benign 0.03
R8398:Myot UTSW 18 44,487,883 (GRCm39) missense probably benign 0.01
R9249:Myot UTSW 18 44,479,265 (GRCm39) missense probably benign 0.08
R9274:Myot UTSW 18 44,479,265 (GRCm39) missense probably damaging 0.98
R9477:Myot UTSW 18 44,470,333 (GRCm39) missense probably benign 0.00
Z1176:Myot UTSW 18 44,479,152 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGTAGCCAACATGTTATGGTATG -3'
(R):5'- CTGCCAACAAAAGATGAACTCTAGG -3'

Sequencing Primer
(F):5'- AGCCAACATGTTATGGTATGTTATC -3'
(R):5'- TTGTAGTGTGGGTAATAAGCATAAC -3'
Posted On 2016-07-22