Incidental Mutation 'IGL02117:Myot'
ID280439
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 #IGL02117
Quality Score
Status
Chromosome18
Chromosomal Location44334074-44355724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44355110 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 441 (R441S)
Ref Sequence ENSEMBL: ENSMUSP00000111160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025349] [ENSMUST00000115498]
Predicted Effect probably benign
Transcript: ENSMUST00000025349
AA Change: R441S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: R441S

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: R441S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: R441S

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,473,546 M71L probably benign Het
Abcb11 A G 2: 69,323,825 probably benign Het
Ago4 T C 4: 126,516,852 T249A probably benign Het
Ahr A T 12: 35,512,923 C92* probably null Het
Arhgap17 G A 7: 123,286,773 probably benign Het
Arid1a G T 4: 133,692,815 T992K unknown Het
Camk2a A G 18: 60,977,989 I83M probably damaging Het
Ccdc154 T C 17: 25,167,818 probably null Het
Chtf18 T C 17: 25,722,203 H607R possibly damaging Het
Col25a1 T C 3: 130,519,773 probably benign Het
Col9a1 C T 1: 24,237,493 Q530* probably null Het
Cryl1 G T 14: 57,286,447 D219E probably damaging Het
Cul3 A T 1: 80,323,064 probably benign Het
Cul9 C A 17: 46,540,375 R373L probably benign Het
Exo1 A G 1: 175,893,743 Y316C possibly damaging Het
Fam114a1 G A 5: 65,030,122 V408M probably benign Het
Hmcn2 A T 2: 31,457,173 S4792C possibly damaging Het
Hps5 A G 7: 46,783,516 F260S probably damaging Het
Hrh4 T C 18: 13,022,420 S339P probably benign Het
Ist1 A T 8: 109,678,952 L152Q probably damaging Het
Marco A G 1: 120,490,954 V190A probably benign Het
Mdn1 T C 4: 32,709,364 V1711A probably benign Het
Mmp9 A G 2: 164,949,724 Y179C probably damaging Het
Mrgprb5 A G 7: 48,168,994 probably benign Het
Mrgprx1 G T 7: 48,021,623 C125* probably null Het
Msh6 A G 17: 87,990,806 probably benign Het
Olfr740 A G 14: 50,453,942 R297G possibly damaging Het
Paf1 A G 7: 28,398,690 probably benign Het
Pde11a A G 2: 75,991,262 L891P probably damaging Het
Prkar2a T A 9: 108,719,261 I135N probably damaging Het
Rap1gap C T 4: 137,727,044 T646M probably damaging Het
Rgs7bp T C 13: 104,951,579 D229G possibly damaging Het
Rhobtb3 C T 13: 75,877,428 S523N probably damaging Het
Setd7 A T 3: 51,521,405 Y335N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Socs4 T C 14: 47,290,807 Y400H probably damaging Het
Spag16 A T 1: 69,870,320 H192L probably damaging Het
Ssh1 A T 5: 113,946,480 C566* probably null Het
Stap1 T G 5: 86,086,693 I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 H238Y probably damaging Het
Tifab T C 13: 56,176,462 Y56C probably benign Het
Tssk2 A G 16: 17,899,789 E352G probably benign Het
Vmn2r57 A T 7: 41,400,450 V625D probably benign Het
Wbp1l T C 19: 46,644,437 Y75H probably benign Het
Wnt5a T C 14: 28,506,120 probably benign Het
Other mutations in Myot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Myot APN 18 44337114 missense possibly damaging 0.85
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 On2015-04-16