Incidental Mutation 'R2568:Myot'
ID 254664
Institutional Source Beutler Lab
Gene Symbol Myot
Ensembl Gene ENSMUSG00000024471
Gene Name myotilin
Synonyms Ttid, 5530402I04Rik
MMRRC Submission 040427-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R2568 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44334074-44355724 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44337216 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 87 (T87A)
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: T87A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: T87A

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: T87A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: T87A

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,201,269 V1010A possibly damaging Het
4930563D23Rik A G 16: 92,321,319 L27P probably damaging Het
A730071L15Rik A T 11: 6,200,161 probably benign Het
Abca13 A T 11: 9,333,310 N3244I probably benign Het
Adgrf5 A G 17: 43,437,671 T219A probably damaging Het
Adgrg5 A T 8: 94,934,021 N92I probably damaging Het
Agt A C 8: 124,556,955 V475G probably damaging Het
Akap6 A G 12: 52,887,278 K518E possibly damaging Het
Apoh T G 11: 108,404,871 D133E probably benign Het
Axdnd1 T A 1: 156,392,749 M234L possibly damaging Het
Cacna1d A G 14: 30,082,511 I1335T probably damaging Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 K444* probably null Het
Clasp2 A G 9: 113,878,764 I614M probably benign Het
Col6a4 A T 9: 106,063,076 D1218E possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
D130043K22Rik C T 13: 24,883,891 T870M probably damaging Het
Dagla C A 19: 10,248,152 A883S probably benign Het
Dhx30 A G 9: 110,097,195 V87A probably damaging Het
Dtx1 C A 5: 120,710,184 V44L possibly damaging Het
Ecm2 T A 13: 49,530,129 S528T possibly damaging Het
Egfem1 A T 3: 29,582,931 N172I probably damaging Het
Fam102b T A 3: 108,978,848 N356I probably benign Het
Fam13a T G 6: 58,935,609 R686S probably damaging Het
Fmo1 T A 1: 162,836,259 I234L probably benign Het
Foxj2 C T 6: 122,828,372 R68W probably damaging Het
Foxo6 A T 4: 120,268,764 M278K probably benign Het
Fsip2 A G 2: 82,990,431 S5503G probably benign Het
Gdf5 C G 2: 155,942,090 R100G probably benign Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Klhl29 A G 12: 5,091,350 S545P probably damaging Het
Krt83 G T 15: 101,487,827 R296S possibly damaging Het
Llgl1 T G 11: 60,708,812 S509R probably damaging Het
Lmod1 A T 1: 135,363,964 K186* probably null Het
Lrpprc C T 17: 84,726,649 A973T probably damaging Het
Marco T C 1: 120,494,785 H49R possibly damaging Het
Mylk4 T C 13: 32,722,018 N394S probably null Het
Myo5a A G 9: 75,123,040 Y147C probably damaging Het
Myo5a T C 9: 75,151,897 V469A probably damaging Het
Nav2 A G 7: 49,597,564 H2154R probably damaging Het
Nek10 A G 14: 14,999,112 E1037G possibly damaging Het
Olfr181 A G 16: 58,925,923 V216A probably benign Het
Olfr341 T C 2: 36,479,974 D52G probably damaging Het
Olfr677 A G 7: 105,056,671 T142A probably benign Het
Pitrm1 G T 13: 6,575,092 V869F probably benign Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,937,781 probably benign Het
Prdx1 T G 4: 116,693,800 I156S probably benign Het
Rbks T A 5: 31,665,752 T107S probably damaging Het
Ryr3 G A 2: 112,675,874 R3468W probably damaging Het
Scn1a C T 2: 66,273,469 D1805N probably damaging Het
Sirpa T C 2: 129,615,648 V214A probably benign Het
Slc35c1 T C 2: 92,458,880 N94D probably benign Het
Sorbs2 A T 8: 45,795,370 K553* probably null Het
Tectb C G 19: 55,180,999 probably benign Het
Thg1l A G 11: 45,951,565 V142A probably benign Het
Tiparp T A 3: 65,553,130 Y513* probably null Het
Tmc6 A G 11: 117,772,820 V522A probably benign Het
Trim39 T A 17: 36,269,164 probably benign Het
Trrap G A 5: 144,843,369 probably null Het
Tulp3 C T 6: 128,327,638 V218I probably benign Het
Vmn1r38 T A 6: 66,776,971 I54F probably benign Het
Vmn2r23 T A 6: 123,742,188 Y833* probably null Het
Zfp810 A T 9: 22,279,238 S125T probably benign Het
Other mutations in Myot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Myot APN 18 44337114 missense possibly damaging 0.85
IGL02117:Myot APN 18 44355110 missense probably benign 0.36
IGL02812:Myot APN 18 44346060 missense probably damaging 1.00
R0178:Myot UTSW 18 44336986 missense probably damaging 1.00
R1512:Myot UTSW 18 44342355 missense probably damaging 1.00
R1620:Myot UTSW 18 44337058 missense possibly damaging 0.48
R2140:Myot UTSW 18 44354125 missense possibly damaging 0.53
R2234:Myot UTSW 18 44354272 missense probably damaging 0.98
R2235:Myot UTSW 18 44354272 missense probably damaging 0.98
R3702:Myot UTSW 18 44354095 splice site probably null
R4967:Myot UTSW 18 44354928 missense possibly damaging 0.68
R5154:Myot UTSW 18 44354214 missense probably benign
R5250:Myot UTSW 18 44346070 missense probably damaging 1.00
R5322:Myot UTSW 18 44354149 missense probably benign 0.05
R7110:Myot UTSW 18 44341386 missense probably damaging 1.00
R7385:Myot UTSW 18 44337008 nonsense probably null
R7529:Myot UTSW 18 44346173 nonsense probably null
R7899:Myot UTSW 18 44354184 missense probably benign 0.01
R8006:Myot UTSW 18 44354837 missense probably damaging 1.00
R8179:Myot UTSW 18 44354130 nonsense probably null
R8296:Myot UTSW 18 44342349 missense probably damaging 1.00
R8367:Myot UTSW 18 44337099 missense probably benign 0.03
R8398:Myot UTSW 18 44354816 missense probably benign 0.01
R9249:Myot UTSW 18 44346198 missense probably benign 0.08
R9274:Myot UTSW 18 44346198 missense probably damaging 0.98
R9477:Myot UTSW 18 44337266 missense probably benign 0.00
Z1176:Myot UTSW 18 44346085 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAATCCGTGTGGCTCCAGAC -3'
(R):5'- GCCCACACTATCATTTTGTGTG -3'

Sequencing Primer
(F):5'- TGTGGCTCCAGACTGCAG -3'
(R):5'- TTGTGTGCTAAAGAATAACAGCAGC -3'
Posted On 2014-12-04