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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |