Incidental Mutation 'A5278:Myo3a'
ID |
60 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo3a
|
Ensembl Gene |
ENSMUSG00000025716 |
Gene Name |
myosin IIIA |
Synonyms |
9030416P08Rik |
Accession Numbers |
Genbank: NM_148413; MGI: 2183924 |
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
A5278
of strain
453
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22227503-22618252 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22323653 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 353
(T353A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044749]
[ENSMUST00000153002]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044749
AA Change: T353A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000046329 Gene: ENSMUSG00000025716 AA Change: T353A
Domain | Start | End | E-Value | Type |
S_TKc
|
29 |
295 |
1.62e-91 |
SMART |
MYSc
|
340 |
1061 |
2.07e-252 |
SMART |
IQ
|
1061 |
1083 |
2.88e1 |
SMART |
IQ
|
1088 |
1110 |
9.48e-3 |
SMART |
low complexity region
|
1153 |
1169 |
N/A |
INTRINSIC |
low complexity region
|
1359 |
1369 |
N/A |
INTRINSIC |
low complexity region
|
1496 |
1505 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153002
AA Change: T345A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120573 Gene: ENSMUSG00000025716 AA Change: T345A
Domain | Start | End | E-Value | Type |
S_TKc
|
21 |
287 |
1.62e-91 |
SMART |
MYSc
|
332 |
753 |
3.06e-35 |
SMART |
|
Meta Mutation Damage Score |
0.1086  |
Coding Region Coverage |
|
Validation Efficiency |
87% (116/134) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 7 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Kat14 |
C |
A |
2: 144,393,307 |
S18* |
probably null |
Het |
Kif17 |
T |
C |
4: 138,287,950 |
V278A |
probably benign |
Homo |
Pbk |
T |
A |
14: 65,813,939 |
I142N |
probably damaging |
Het |
Rab32 |
A |
G |
10: 10,557,973 |
I39T |
possibly damaging |
Het |
Rhou |
G |
T |
8: 123,660,991 |
C154F |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,353,815 |
|
probably benign |
Het |
Tdrd7 |
C |
T |
4: 46,007,622 |
T558M |
probably benign |
Homo |
|
Other mutations in Myo3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01014:Myo3a
|
APN |
2 |
22332473 |
missense |
probably benign |
0.42 |
IGL01307:Myo3a
|
APN |
2 |
22558289 |
missense |
probably damaging |
1.00 |
IGL01413:Myo3a
|
APN |
2 |
22297600 |
missense |
probably benign |
0.25 |
IGL01655:Myo3a
|
APN |
2 |
22423326 |
missense |
probably damaging |
1.00 |
IGL01767:Myo3a
|
APN |
2 |
22423222 |
missense |
probably damaging |
0.96 |
IGL01803:Myo3a
|
APN |
2 |
22241115 |
missense |
probably damaging |
1.00 |
IGL01969:Myo3a
|
APN |
2 |
22297688 |
missense |
probably benign |
0.03 |
IGL02043:Myo3a
|
APN |
2 |
22399965 |
missense |
probably benign |
0.01 |
IGL02124:Myo3a
|
APN |
2 |
22577526 |
missense |
probably benign |
0.01 |
IGL02174:Myo3a
|
APN |
2 |
22332393 |
missense |
probably benign |
0.04 |
IGL02649:Myo3a
|
APN |
2 |
22323607 |
missense |
probably benign |
|
IGL02976:Myo3a
|
APN |
2 |
22542452 |
nonsense |
probably null |
|
IGL03328:Myo3a
|
APN |
2 |
22578198 |
missense |
probably benign |
0.02 |
IGL03376:Myo3a
|
APN |
2 |
22600074 |
splice site |
probably benign |
|
lose
|
UTSW |
2 |
22558320 |
nonsense |
probably null |
|
snooze
|
UTSW |
2 |
22282634 |
missense |
probably damaging |
0.99 |
PIT4445001:Myo3a
|
UTSW |
2 |
22542415 |
missense |
possibly damaging |
0.64 |
R0008:Myo3a
|
UTSW |
2 |
22579741 |
missense |
probably damaging |
0.99 |
R0099:Myo3a
|
UTSW |
2 |
22245598 |
missense |
probably benign |
0.03 |
R0103:Myo3a
|
UTSW |
2 |
22544322 |
splice site |
probably benign |
|
R0103:Myo3a
|
UTSW |
2 |
22544322 |
splice site |
probably benign |
|
R0212:Myo3a
|
UTSW |
2 |
22291848 |
missense |
probably damaging |
1.00 |
R0281:Myo3a
|
UTSW |
2 |
22245598 |
missense |
probably benign |
0.03 |
R0282:Myo3a
|
UTSW |
2 |
22245598 |
missense |
probably benign |
0.03 |
R0492:Myo3a
|
UTSW |
2 |
22323636 |
missense |
possibly damaging |
0.46 |
R0498:Myo3a
|
UTSW |
2 |
22577429 |
missense |
possibly damaging |
0.74 |
R0594:Myo3a
|
UTSW |
2 |
22544332 |
splice site |
probably benign |
|
R0609:Myo3a
|
UTSW |
2 |
22333513 |
missense |
probably benign |
0.29 |
R0609:Myo3a
|
UTSW |
2 |
22396299 |
missense |
possibly damaging |
0.95 |
R0827:Myo3a
|
UTSW |
2 |
22558215 |
missense |
probably damaging |
1.00 |
R0968:Myo3a
|
UTSW |
2 |
22558289 |
missense |
probably damaging |
1.00 |
R1157:Myo3a
|
UTSW |
2 |
22542414 |
critical splice acceptor site |
probably null |
|
R1301:Myo3a
|
UTSW |
2 |
22267095 |
splice site |
probably benign |
|
R1352:Myo3a
|
UTSW |
2 |
22323675 |
critical splice donor site |
probably null |
|
R1443:Myo3a
|
UTSW |
2 |
22282626 |
missense |
probably damaging |
0.99 |
R1465:Myo3a
|
UTSW |
2 |
22577927 |
missense |
probably benign |
0.00 |
R1465:Myo3a
|
UTSW |
2 |
22577927 |
missense |
probably benign |
0.00 |
R1517:Myo3a
|
UTSW |
2 |
22282634 |
missense |
probably damaging |
0.99 |
R1565:Myo3a
|
UTSW |
2 |
22340280 |
missense |
probably damaging |
1.00 |
R1712:Myo3a
|
UTSW |
2 |
22564992 |
missense |
probably damaging |
1.00 |
R1722:Myo3a
|
UTSW |
2 |
22399827 |
missense |
probably benign |
0.03 |
R1822:Myo3a
|
UTSW |
2 |
22340280 |
missense |
probably damaging |
1.00 |
R1823:Myo3a
|
UTSW |
2 |
22340280 |
missense |
probably damaging |
1.00 |
R1824:Myo3a
|
UTSW |
2 |
22396243 |
missense |
probably benign |
|
R1837:Myo3a
|
UTSW |
2 |
22577592 |
missense |
possibly damaging |
0.76 |
R1867:Myo3a
|
UTSW |
2 |
22399846 |
missense |
probably benign |
0.00 |
R1917:Myo3a
|
UTSW |
2 |
22291922 |
missense |
probably damaging |
1.00 |
R1920:Myo3a
|
UTSW |
2 |
22564996 |
missense |
probably benign |
0.02 |
R1937:Myo3a
|
UTSW |
2 |
22396315 |
missense |
probably damaging |
1.00 |
R1954:Myo3a
|
UTSW |
2 |
22241226 |
missense |
probably damaging |
1.00 |
R1988:Myo3a
|
UTSW |
2 |
22578128 |
missense |
possibly damaging |
0.86 |
R2091:Myo3a
|
UTSW |
2 |
22333677 |
missense |
probably damaging |
0.99 |
R2115:Myo3a
|
UTSW |
2 |
22245531 |
missense |
probably damaging |
1.00 |
R2125:Myo3a
|
UTSW |
2 |
22578174 |
missense |
probably benign |
0.42 |
R2126:Myo3a
|
UTSW |
2 |
22578174 |
missense |
probably benign |
0.42 |
R2216:Myo3a
|
UTSW |
2 |
22577771 |
missense |
probably benign |
0.00 |
R2413:Myo3a
|
UTSW |
2 |
22577912 |
missense |
probably benign |
0.00 |
R2964:Myo3a
|
UTSW |
2 |
22340256 |
missense |
possibly damaging |
0.90 |
R3196:Myo3a
|
UTSW |
2 |
22399868 |
missense |
possibly damaging |
0.86 |
R3837:Myo3a
|
UTSW |
2 |
22565109 |
splice site |
probably benign |
|
R3905:Myo3a
|
UTSW |
2 |
22558215 |
missense |
probably damaging |
1.00 |
R3926:Myo3a
|
UTSW |
2 |
22565041 |
missense |
probably damaging |
0.99 |
R4014:Myo3a
|
UTSW |
2 |
22578170 |
missense |
possibly damaging |
0.76 |
R4015:Myo3a
|
UTSW |
2 |
22578170 |
missense |
possibly damaging |
0.76 |
R4017:Myo3a
|
UTSW |
2 |
22578170 |
missense |
possibly damaging |
0.76 |
R4043:Myo3a
|
UTSW |
2 |
22333539 |
splice site |
probably benign |
|
R4044:Myo3a
|
UTSW |
2 |
22577700 |
missense |
probably damaging |
0.99 |
R4057:Myo3a
|
UTSW |
2 |
22266160 |
missense |
probably benign |
0.01 |
R4192:Myo3a
|
UTSW |
2 |
22407377 |
missense |
probably damaging |
1.00 |
R4282:Myo3a
|
UTSW |
2 |
22340278 |
missense |
probably benign |
0.14 |
R4321:Myo3a
|
UTSW |
2 |
22267155 |
missense |
probably damaging |
1.00 |
R4393:Myo3a
|
UTSW |
2 |
22577854 |
missense |
probably damaging |
0.99 |
R4398:Myo3a
|
UTSW |
2 |
22577842 |
missense |
probably benign |
|
R4446:Myo3a
|
UTSW |
2 |
22600137 |
missense |
probably damaging |
1.00 |
R4685:Myo3a
|
UTSW |
2 |
22407422 |
missense |
probably damaging |
1.00 |
R5032:Myo3a
|
UTSW |
2 |
22282602 |
missense |
probably damaging |
1.00 |
R5096:Myo3a
|
UTSW |
2 |
22574242 |
missense |
probably benign |
0.16 |
R5183:Myo3a
|
UTSW |
2 |
22578158 |
missense |
probably benign |
0.05 |
R5458:Myo3a
|
UTSW |
2 |
22245550 |
missense |
probably damaging |
1.00 |
R5502:Myo3a
|
UTSW |
2 |
22558369 |
missense |
probably damaging |
1.00 |
R5522:Myo3a
|
UTSW |
2 |
22574341 |
missense |
probably damaging |
1.00 |
R6462:Myo3a
|
UTSW |
2 |
22558411 |
missense |
probably damaging |
1.00 |
R6479:Myo3a
|
UTSW |
2 |
22577865 |
missense |
probably benign |
0.00 |
R6513:Myo3a
|
UTSW |
2 |
22407332 |
missense |
probably damaging |
1.00 |
R6520:Myo3a
|
UTSW |
2 |
22399926 |
missense |
possibly damaging |
0.90 |
R6602:Myo3a
|
UTSW |
2 |
22577787 |
missense |
probably damaging |
0.96 |
R6671:Myo3a
|
UTSW |
2 |
22294522 |
missense |
probably damaging |
1.00 |
R6743:Myo3a
|
UTSW |
2 |
22361664 |
missense |
probably benign |
0.24 |
R6865:Myo3a
|
UTSW |
2 |
22574301 |
missense |
probably benign |
0.00 |
R6961:Myo3a
|
UTSW |
2 |
22245558 |
missense |
probably benign |
0.00 |
R7001:Myo3a
|
UTSW |
2 |
22332377 |
missense |
probably benign |
0.04 |
R7215:Myo3a
|
UTSW |
2 |
22245567 |
missense |
possibly damaging |
0.78 |
R7301:Myo3a
|
UTSW |
2 |
22544466 |
critical splice donor site |
probably null |
|
R7318:Myo3a
|
UTSW |
2 |
22558320 |
nonsense |
probably null |
|
R7447:Myo3a
|
UTSW |
2 |
22544426 |
missense |
probably benign |
0.27 |
R7456:Myo3a
|
UTSW |
2 |
22407444 |
missense |
probably benign |
0.08 |
R7528:Myo3a
|
UTSW |
2 |
22266114 |
nonsense |
probably null |
|
R7731:Myo3a
|
UTSW |
2 |
22282589 |
missense |
probably damaging |
1.00 |
R7768:Myo3a
|
UTSW |
2 |
22241143 |
missense |
probably damaging |
0.99 |
R8054:Myo3a
|
UTSW |
2 |
22574317 |
missense |
probably benign |
0.00 |
R8140:Myo3a
|
UTSW |
2 |
22407346 |
missense |
probably damaging |
1.00 |
R8143:Myo3a
|
UTSW |
2 |
22282665 |
critical splice donor site |
probably null |
|
R8346:Myo3a
|
UTSW |
2 |
22558422 |
critical splice donor site |
probably null |
|
R8421:Myo3a
|
UTSW |
2 |
22362124 |
missense |
probably benign |
0.07 |
R8495:Myo3a
|
UTSW |
2 |
22396273 |
missense |
probably damaging |
0.96 |
R8551:Myo3a
|
UTSW |
2 |
22332466 |
missense |
probably benign |
0.00 |
R8708:Myo3a
|
UTSW |
2 |
22291796 |
splice site |
probably benign |
|
R8757:Myo3a
|
UTSW |
2 |
22558307 |
missense |
possibly damaging |
0.49 |
R8759:Myo3a
|
UTSW |
2 |
22558307 |
missense |
possibly damaging |
0.49 |
R8779:Myo3a
|
UTSW |
2 |
22245593 |
nonsense |
probably null |
|
R8828:Myo3a
|
UTSW |
2 |
22241053 |
missense |
probably benign |
0.01 |
R8910:Myo3a
|
UTSW |
2 |
22574268 |
missense |
probably benign |
0.01 |
R8916:Myo3a
|
UTSW |
2 |
22567692 |
missense |
probably damaging |
1.00 |
R8926:Myo3a
|
UTSW |
2 |
22396263 |
missense |
possibly damaging |
0.95 |
R9028:Myo3a
|
UTSW |
2 |
22600087 |
missense |
possibly damaging |
0.79 |
R9046:Myo3a
|
UTSW |
2 |
22558355 |
missense |
probably damaging |
0.99 |
R9120:Myo3a
|
UTSW |
2 |
22544426 |
missense |
probably benign |
0.27 |
R9153:Myo3a
|
UTSW |
2 |
22399933 |
missense |
probably benign |
0.02 |
R9191:Myo3a
|
UTSW |
2 |
22579829 |
missense |
probably benign |
0.24 |
R9258:Myo3a
|
UTSW |
2 |
22577533 |
missense |
possibly damaging |
0.60 |
R9436:Myo3a
|
UTSW |
2 |
22407424 |
nonsense |
probably null |
|
R9464:Myo3a
|
UTSW |
2 |
22227572 |
start gained |
probably benign |
|
Z1177:Myo3a
|
UTSW |
2 |
22618140 |
missense |
possibly damaging |
0.58 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to G transition at position 3982 of the Myo3a transcript. The mutated nucleotide causes a threonine to alanine substitution at amino acid 345 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Myo3a gene encodes a 1613 amino acid protein with evidence at the transcript level. MYO3A is a probably actin-based motor protein with a protein kinase activity. Its N-terminus belongs to the serine/threonine protein kinase family. MYO3A contains a myosin head-like domain at amino acids 340-1040, and two calmodulin-binding IQ domains at residues 1054-1110. It has a nucleotide-binding site at amino acids 27-35. MYO3A is likely to function in vision and hearing (Uniprot Q8K3H5).
The T345A change is predicted to be benign by the PolyPhen program.
|
Posted On |
2009-12-03 |