Incidental Mutation 'R1822:Myo3a'
| ID |
206434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo3a
|
| Ensembl Gene |
ENSMUSG00000025716 |
| Gene Name |
myosin IIIA |
| Synonyms |
9030416P08Rik |
| MMRRC Submission |
039850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22232314-22508264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22345091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 509
(Y509F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044749]
[ENSMUST00000153002]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044749
AA Change: Y517F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: Y517F
| 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 damaging
Transcript: ENSMUST00000153002
AA Change: Y509F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: Y509F
| 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 |
0.4083 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
97% (105/108) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,847,901 (GRCm39) |
T798K |
possibly damaging |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Adsl |
G |
T |
15: 80,846,943 (GRCm39) |
E70* |
probably null |
Het |
| Ahcyl2 |
A |
G |
6: 29,768,583 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
G |
4: 116,493,850 (GRCm39) |
V310A |
probably benign |
Het |
| Alpk3 |
T |
A |
7: 80,726,679 (GRCm39) |
C121* |
probably null |
Het |
| Amph |
T |
A |
13: 19,132,625 (GRCm39) |
I8N |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,840,420 (GRCm39) |
A364T |
probably damaging |
Het |
| Apbb2 |
T |
C |
5: 66,557,520 (GRCm39) |
T314A |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,564,258 (GRCm39) |
T834A |
probably benign |
Het |
| Brca2 |
T |
G |
5: 150,463,663 (GRCm39) |
D1142E |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,814 (GRCm39) |
N1960S |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,768,823 (GRCm39) |
S210G |
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,300,525 (GRCm39) |
E596D |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,413,648 (GRCm39) |
S358R |
probably benign |
Het |
| Cdhr3 |
C |
T |
12: 33,095,204 (GRCm39) |
G622S |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,532,081 (GRCm39) |
Y540H |
probably benign |
Het |
| Crhr1 |
A |
T |
11: 104,023,898 (GRCm39) |
M1L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,273,340 (GRCm39) |
T831A |
probably damaging |
Het |
| Cwc22 |
T |
C |
2: 77,755,003 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,921,763 (GRCm39) |
K390N |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,810 (GRCm39) |
|
probably null |
Het |
| Cytip |
A |
C |
2: 58,024,158 (GRCm39) |
S221A |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,240,550 (GRCm39) |
R227C |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,560,514 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,405,630 (GRCm39) |
D627E |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,138,422 (GRCm39) |
E1249G |
probably benign |
Het |
| Dpysl3 |
A |
G |
18: 43,475,393 (GRCm39) |
V31A |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,805,539 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
C |
7: 64,022,554 (GRCm39) |
N233S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
| Glipr1 |
T |
A |
10: 111,832,765 (GRCm39) |
M58L |
possibly damaging |
Het |
| Gm10509 |
C |
T |
17: 21,909,765 (GRCm39) |
P31S |
possibly damaging |
Het |
| Gm5070 |
T |
C |
3: 95,318,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,841,998 (GRCm39) |
N138S |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,273,704 (GRCm39) |
S1352L |
probably damaging |
Het |
| Hoxa5 |
G |
A |
6: 52,179,712 (GRCm39) |
T221I |
probably damaging |
Het |
| Hsd17b2 |
C |
A |
8: 118,485,488 (GRCm39) |
P317Q |
possibly damaging |
Het |
| Ifi213 |
T |
A |
1: 173,417,408 (GRCm39) |
S335C |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,729 (GRCm39) |
D156V |
probably damaging |
Het |
| Khnyn |
A |
T |
14: 56,123,309 (GRCm39) |
E21V |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,759,661 (GRCm39) |
G1199E |
unknown |
Het |
| Lipk |
T |
C |
19: 34,016,491 (GRCm39) |
W240R |
probably benign |
Het |
| Lpar5 |
A |
G |
6: 125,058,378 (GRCm39) |
D33G |
possibly damaging |
Het |
| Lrp11 |
A |
G |
10: 7,471,961 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,624,285 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,047,837 (GRCm39) |
C252R |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,142,585 (GRCm39) |
F354L |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,312,919 (GRCm39) |
|
probably benign |
Het |
| Mmp28 |
A |
G |
11: 83,335,045 (GRCm39) |
I331T |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,348,242 (GRCm39) |
S898P |
possibly damaging |
Het |
| Nectin1 |
T |
A |
9: 43,702,374 (GRCm39) |
Y40* |
probably null |
Het |
| Neurl1a |
T |
A |
19: 47,245,898 (GRCm39) |
V493E |
probably benign |
Het |
| Ntf3 |
A |
C |
6: 126,079,209 (GRCm39) |
I99S |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,054 (GRCm39) |
S258P |
possibly damaging |
Het |
| Or1l4 |
C |
G |
2: 37,091,992 (GRCm39) |
H246Q |
probably damaging |
Het |
| Or1p1c |
A |
G |
11: 74,161,066 (GRCm39) |
T284A |
probably benign |
Het |
| Or2ak5 |
A |
T |
11: 58,611,133 (GRCm39) |
V247E |
probably damaging |
Het |
| Or2i1 |
A |
G |
17: 37,507,722 (GRCm39) |
|
probably benign |
Het |
| Or2y1c |
T |
A |
11: 49,361,795 (GRCm39) |
F272L |
probably benign |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,780 (GRCm39) |
R233C |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,054 (GRCm39) |
T1343I |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,215,454 (GRCm39) |
Y125F |
probably benign |
Het |
| Pate3 |
G |
A |
9: 35,557,401 (GRCm39) |
T85I |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,317,150 (GRCm39) |
|
probably benign |
Het |
| Phf11d |
T |
C |
14: 59,593,778 (GRCm39) |
H132R |
probably benign |
Het |
| Pik3c3 |
G |
A |
18: 30,477,130 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,577,469 (GRCm39) |
D2372N |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,554,339 (GRCm39) |
E129K |
probably damaging |
Het |
| Pym1 |
G |
A |
10: 128,601,913 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,334,372 (GRCm39) |
V1027E |
probably damaging |
Het |
| Rita1 |
T |
C |
5: 120,747,645 (GRCm39) |
T218A |
possibly damaging |
Het |
| Rrh |
T |
A |
3: 129,606,282 (GRCm39) |
T218S |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,767,184 (GRCm39) |
A416T |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,314,716 (GRCm39) |
L1115P |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,017,217 (GRCm39) |
S268T |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,278,407 (GRCm39) |
H574N |
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,765 (GRCm39) |
W495* |
probably null |
Het |
| Slc32a1 |
A |
G |
2: 158,453,298 (GRCm39) |
H46R |
probably benign |
Het |
| Slc37a1 |
C |
T |
17: 31,519,405 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,606,173 (GRCm39) |
W694R |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,158,222 (GRCm39) |
D113E |
probably benign |
Het |
| Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
| Srpk3 |
G |
A |
X: 72,821,561 (GRCm39) |
R425Q |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,469,820 (GRCm39) |
Q4506L |
possibly damaging |
Het |
| Stam2 |
T |
A |
2: 52,606,539 (GRCm39) |
E115D |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,280,953 (GRCm39) |
L50H |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Togaram1 |
T |
G |
12: 65,042,409 (GRCm39) |
V1156G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,854 (GRCm39) |
T192A |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,930,265 (GRCm39) |
Q410P |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Zfp341 |
A |
G |
2: 154,488,054 (GRCm39) |
E839G |
possibly damaging |
Het |
| Zhx3 |
G |
A |
2: 160,622,275 (GRCm39) |
L631F |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,944,513 (GRCm39) |
E95G |
possibly damaging |
Het |
|
| Other mutations in Myo3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Myo3a
|
APN |
2 |
22,337,284 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01307:Myo3a
|
APN |
2 |
22,448,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Myo3a
|
APN |
2 |
22,302,411 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01655:Myo3a
|
APN |
2 |
22,428,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Myo3a
|
APN |
2 |
22,428,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01803:Myo3a
|
APN |
2 |
22,245,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Myo3a
|
APN |
2 |
22,302,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02043:Myo3a
|
APN |
2 |
22,404,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02124:Myo3a
|
APN |
2 |
22,467,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02174:Myo3a
|
APN |
2 |
22,337,204 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02649:Myo3a
|
APN |
2 |
22,328,418 (GRCm39) |
missense |
probably benign |
|
|
IGL02976:Myo3a
|
APN |
2 |
22,434,494 (GRCm39) |
nonsense |
probably null |
|
|
IGL03328:Myo3a
|
APN |
2 |
22,468,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03376:Myo3a
|
APN |
2 |
22,490,086 (GRCm39) |
splice site |
probably benign |
|
|
lose
|
UTSW |
2 |
22,448,332 (GRCm39) |
nonsense |
probably null |
|
|
snooze
|
UTSW |
2 |
22,287,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
A5278:Myo3a
|
UTSW |
2 |
22,328,464 (GRCm39) |
missense |
probably benign |
0.27 |
|
PIT4445001:Myo3a
|
UTSW |
2 |
22,434,457 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0008:Myo3a
|
UTSW |
2 |
22,469,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0099:Myo3a
|
UTSW |
2 |
22,250,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0103:Myo3a
|
UTSW |
2 |
22,436,360 (GRCm39) |
splice site |
probably benign |
|
|
R0103:Myo3a
|
UTSW |
2 |
22,436,360 (GRCm39) |
splice site |
probably benign |
|
|
R0212:Myo3a
|
UTSW |
2 |
22,296,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Myo3a
|
UTSW |
2 |
22,250,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0282:Myo3a
|
UTSW |
2 |
22,250,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0492:Myo3a
|
UTSW |
2 |
22,328,447 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0498:Myo3a
|
UTSW |
2 |
22,467,441 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0594:Myo3a
|
UTSW |
2 |
22,436,370 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Myo3a
|
UTSW |
2 |
22,401,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0609:Myo3a
|
UTSW |
2 |
22,338,324 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0827:Myo3a
|
UTSW |
2 |
22,448,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Myo3a
|
UTSW |
2 |
22,448,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Myo3a
|
UTSW |
2 |
22,434,456 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1301:Myo3a
|
UTSW |
2 |
22,271,906 (GRCm39) |
splice site |
probably benign |
|
|
R1352:Myo3a
|
UTSW |
2 |
22,328,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1443:Myo3a
|
UTSW |
2 |
22,287,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1465:Myo3a
|
UTSW |
2 |
22,467,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Myo3a
|
UTSW |
2 |
22,467,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1517:Myo3a
|
UTSW |
2 |
22,287,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1565:Myo3a
|
UTSW |
2 |
22,345,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Myo3a
|
UTSW |
2 |
22,455,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Myo3a
|
UTSW |
2 |
22,404,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1823:Myo3a
|
UTSW |
2 |
22,345,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Myo3a
|
UTSW |
2 |
22,401,054 (GRCm39) |
missense |
probably benign |
|
|
R1837:Myo3a
|
UTSW |
2 |
22,467,604 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1867:Myo3a
|
UTSW |
2 |
22,404,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1917:Myo3a
|
UTSW |
2 |
22,296,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Myo3a
|
UTSW |
2 |
22,455,008 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1937:Myo3a
|
UTSW |
2 |
22,401,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Myo3a
|
UTSW |
2 |
22,246,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Myo3a
|
UTSW |
2 |
22,468,140 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2091:Myo3a
|
UTSW |
2 |
22,338,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2115:Myo3a
|
UTSW |
2 |
22,250,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Myo3a
|
UTSW |
2 |
22,468,186 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2126:Myo3a
|
UTSW |
2 |
22,468,186 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2216:Myo3a
|
UTSW |
2 |
22,467,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2413:Myo3a
|
UTSW |
2 |
22,467,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2964:Myo3a
|
UTSW |
2 |
22,345,067 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3196:Myo3a
|
UTSW |
2 |
22,404,679 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3837:Myo3a
|
UTSW |
2 |
22,455,121 (GRCm39) |
splice site |
probably benign |
|
|
R3905:Myo3a
|
UTSW |
2 |
22,448,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3926:Myo3a
|
UTSW |
2 |
22,455,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4014:Myo3a
|
UTSW |
2 |
22,468,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4015:Myo3a
|
UTSW |
2 |
22,468,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4017:Myo3a
|
UTSW |
2 |
22,468,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4043:Myo3a
|
UTSW |
2 |
22,338,350 (GRCm39) |
splice site |
probably benign |
|
|
R4044:Myo3a
|
UTSW |
2 |
22,467,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4057:Myo3a
|
UTSW |
2 |
22,270,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4192:Myo3a
|
UTSW |
2 |
22,412,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Myo3a
|
UTSW |
2 |
22,345,089 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4321:Myo3a
|
UTSW |
2 |
22,271,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Myo3a
|
UTSW |
2 |
22,467,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4398:Myo3a
|
UTSW |
2 |
22,467,854 (GRCm39) |
missense |
probably benign |
|
|
R4446:Myo3a
|
UTSW |
2 |
22,490,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Myo3a
|
UTSW |
2 |
22,412,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Myo3a
|
UTSW |
2 |
22,287,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Myo3a
|
UTSW |
2 |
22,464,254 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5183:Myo3a
|
UTSW |
2 |
22,468,170 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5458:Myo3a
|
UTSW |
2 |
22,250,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Myo3a
|
UTSW |
2 |
22,448,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Myo3a
|
UTSW |
2 |
22,464,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Myo3a
|
UTSW |
2 |
22,448,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Myo3a
|
UTSW |
2 |
22,467,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6513:Myo3a
|
UTSW |
2 |
22,412,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Myo3a
|
UTSW |
2 |
22,404,737 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6602:Myo3a
|
UTSW |
2 |
22,467,799 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6671:Myo3a
|
UTSW |
2 |
22,299,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Myo3a
|
UTSW |
2 |
22,366,475 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6865:Myo3a
|
UTSW |
2 |
22,464,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6961:Myo3a
|
UTSW |
2 |
22,250,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Myo3a
|
UTSW |
2 |
22,337,188 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7215:Myo3a
|
UTSW |
2 |
22,250,378 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7301:Myo3a
|
UTSW |
2 |
22,436,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7318:Myo3a
|
UTSW |
2 |
22,448,332 (GRCm39) |
nonsense |
probably null |
|
|
R7447:Myo3a
|
UTSW |
2 |
22,436,464 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7456:Myo3a
|
UTSW |
2 |
22,412,255 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7528:Myo3a
|
UTSW |
2 |
22,270,925 (GRCm39) |
nonsense |
probably null |
|
|
R7731:Myo3a
|
UTSW |
2 |
22,287,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Myo3a
|
UTSW |
2 |
22,245,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8054:Myo3a
|
UTSW |
2 |
22,464,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8140:Myo3a
|
UTSW |
2 |
22,412,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Myo3a
|
UTSW |
2 |
22,287,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8346:Myo3a
|
UTSW |
2 |
22,448,434 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8421:Myo3a
|
UTSW |
2 |
22,366,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8495:Myo3a
|
UTSW |
2 |
22,401,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8551:Myo3a
|
UTSW |
2 |
22,337,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Myo3a
|
UTSW |
2 |
22,296,607 (GRCm39) |
splice site |
probably benign |
|
|
R8757:Myo3a
|
UTSW |
2 |
22,448,319 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8759:Myo3a
|
UTSW |
2 |
22,448,319 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8779:Myo3a
|
UTSW |
2 |
22,250,404 (GRCm39) |
nonsense |
probably null |
|
|
R8828:Myo3a
|
UTSW |
2 |
22,245,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8910:Myo3a
|
UTSW |
2 |
22,464,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8916:Myo3a
|
UTSW |
2 |
22,457,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Myo3a
|
UTSW |
2 |
22,401,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9028:Myo3a
|
UTSW |
2 |
22,490,099 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9046:Myo3a
|
UTSW |
2 |
22,448,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9120:Myo3a
|
UTSW |
2 |
22,436,464 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9153:Myo3a
|
UTSW |
2 |
22,404,744 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9191:Myo3a
|
UTSW |
2 |
22,469,841 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9258:Myo3a
|
UTSW |
2 |
22,467,545 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9436:Myo3a
|
UTSW |
2 |
22,412,235 (GRCm39) |
nonsense |
probably null |
|
|
R9464:Myo3a
|
UTSW |
2 |
22,232,383 (GRCm39) |
start gained |
probably benign |
|
|
R9487:Myo3a
|
UTSW |
2 |
22,245,862 (GRCm39) |
missense |
probably benign |
|
|
R9719:Myo3a
|
UTSW |
2 |
22,436,493 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9799:Myo3a
|
UTSW |
2 |
22,490,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Myo3a
|
UTSW |
2 |
22,508,152 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGCTAATAACAGAACCCTGC -3'
(R):5'- GAGCTTTTAACTCTATAAGCCTTGC -3'
Sequencing Primer
(F):5'- GAACCCTGCAAGAGAAGATTTTAC -3'
(R):5'- AAGGACCCAGATATAGCTCTCTCTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation