Incidental Mutation 'R1620:Myot'
| ID |
174641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myot
|
| Ensembl Gene |
ENSMUSG00000024471 |
| Gene Name |
myotilin |
| Synonyms |
5530402I04Rik, Ttid |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44467141-44488791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44470125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 34
(Q34L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025349]
[ENSMUST00000115498]
|
| AlphaFold |
Q9JIF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025349
AA Change: Q34L
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: Q34L
| 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 |
possibly damaging
Transcript: ENSMUST00000115498
AA Change: Q34L
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: Q34L
| 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 |
0.0683 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACCTTCTGTGTAATTCCAGGC -3'
(R):5'- CACCCTCAGATAAAGCTCATGGCG -3'
Sequencing Primer
(F):5'- AGGCTTGCCAACCCCAC -3'
(R):5'- CGCAGATTCACTTACTTGGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation