Incidental Mutation 'R3702:Myot'
| ID |
258585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myot
|
| Ensembl Gene |
ENSMUSG00000024471 |
| Gene Name |
myotilin |
| Synonyms |
5530402I04Rik, Ttid |
| MMRRC Submission |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44467141-44488791 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 44487162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025349]
[ENSMUST00000115498]
|
| AlphaFold |
Q9JIF9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025349
|
| SMART Domains |
Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
| 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 null
Transcript: ENSMUST00000115498
|
| SMART Domains |
Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
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 |
|
IGL02117:Myot
|
APN |
18 |
44,488,177 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCCTTCATGATAAAAGTCTTGG -3'
(R):5'- TCACCTTATCCGATCAGTGTTG -3'
Sequencing Primer
(F):5'- TCAGGAATTCAAGGCCCATAG -3'
(R):5'- AGTGTTGAACTGGACCATTTCATTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation