Incidental Mutation 'IGL00944:Myot'
ID29427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myot
Ensembl Gene ENSMUSG00000024471
Gene Namemyotilin
SynonymsTtid, 5530402I04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00944
Quality Score
Status
Chromosome18
Chromosomal Location44334074-44355724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44337114 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 53 (S53P)
Ref Sequence ENSEMBL: ENSMUSP00000111160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025349] [ENSMUST00000115498]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025349
AA Change: S53P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: S53P

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 possibly damaging
Transcript: ENSMUST00000115498
AA Change: S53P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: S53P

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,202,161 N441S probably damaging Het
Bod1l A G 5: 41,816,823 C2383R probably benign Het
Dapk3 G T 10: 81,184,076 probably null Het
Dock6 T C 9: 21,846,634 D58G possibly damaging Het
Elmsan1 A G 12: 84,160,548 probably benign Het
Etl4 G A 2: 20,530,054 V107I possibly damaging Het
Fam163b A G 2: 27,113,585 L19P probably damaging Het
Fbxl20 A C 11: 98,113,242 F73L probably damaging Het
Foxj2 T C 6: 122,839,635 L492P probably damaging Het
Hfm1 A T 5: 106,902,130 V391E possibly damaging Het
Ift74 T C 4: 94,693,022 Y586H probably damaging Het
Klhl12 A G 1: 134,483,753 N280S probably benign Het
Lctl T A 9: 64,133,129 Y292* probably null Het
Ltb C A 17: 35,194,666 Q49K possibly damaging Het
Mapk1 T A 16: 17,035,458 D289E probably benign Het
Mpp6 T C 6: 50,163,456 V152A possibly damaging Het
Mroh2b C T 15: 4,951,127 probably benign Het
Olfr1089 A G 2: 86,733,561 I17T possibly damaging Het
Olfr1447 A T 19: 12,901,355 Y142N probably benign Het
Opn5 G A 17: 42,611,228 L28F probably damaging Het
Pld1 T A 3: 28,045,098 probably null Het
Rc3h2 A G 2: 37,398,238 probably benign Het
Robo2 T A 16: 73,933,697 H1009L possibly damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Sh3bp1 A T 15: 78,905,114 D288V possibly damaging Het
Smpd4 T C 16: 17,642,757 I809T probably benign Het
Spata6 C T 4: 111,805,928 probably benign Het
Trnau1ap C A 4: 132,328,506 V30L possibly damaging Het
Trpm4 T C 7: 45,318,349 H386R probably benign Het
Ttc3 T G 16: 94,426,761 probably null Het
Ufd1 T C 16: 18,825,031 V180A possibly damaging Het
Vmn2r102 A G 17: 19,678,892 I499V probably damaging Het
Zfp112 C A 7: 24,125,596 Q330K probably benign Het
Zfp668 G A 7: 127,867,907 R166W probably damaging Het
Other mutations in Myot
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2568:Myot UTSW 18 44337216 missense probably benign 0.02
R3702:Myot UTSW 18 44354095 intron 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
Posted On2013-04-17