Incidental Mutation 'IGL02117:Myot'
ID 280439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myot
Ensembl Gene ENSMUSG00000024471
Gene Name myotilin
Synonyms 5530402I04Rik, Ttid
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 18
Chromosomal Location 44467141-44488791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44488177 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JIF9
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: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Myot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Myot APN 18 44,470,181 (GRCm39) missense possibly damaging 0.85
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
R5322:Myot UTSW 18 44,487,216 (GRCm39) missense probably benign 0.05
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
Posted On 2015-04-16