Incidental Mutation 'R0601:Myo5a'
| ID |
55416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
038790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0601 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75081297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 961
(T961A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000155282]
|
| AlphaFold |
Q99104 |
| PDB Structure |
Structure of apo-calmodulin bound to unconventional myosin V [X-RAY DIFFRACTION]
Crystal Structure of MyoVa-GTD [X-RAY DIFFRACTION]
Crystal Structure of MyoVa-GTD in Complex with Two Cargos [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123128
AA Change: T961A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: T961A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1314 |
1364 |
N/A |
INTRINSIC |
|
coiled coil region
|
1406 |
1443 |
N/A |
INTRINSIC |
|
DIL
|
1685 |
1790 |
2.47e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136731
AA Change: T961A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: T961A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1314 |
1418 |
N/A |
INTRINSIC |
|
DIL
|
1660 |
1765 |
2.47e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155282
AA Change: T961A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: T961A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
764 |
N/A |
SMART |
|
IQ
|
765 |
787 |
3.65e-4 |
SMART |
|
IQ
|
788 |
810 |
1.56e-3 |
SMART |
|
IQ
|
813 |
835 |
3.05e-6 |
SMART |
|
IQ
|
836 |
858 |
8.38e-4 |
SMART |
|
IQ
|
861 |
883 |
1.09e-2 |
SMART |
|
IQ
|
884 |
906 |
6.97e0 |
SMART |
|
coiled coil region
|
1153 |
1234 |
N/A |
INTRINSIC |
|
coiled coil region
|
1339 |
1445 |
N/A |
INTRINSIC |
|
DIL
|
1687 |
1792 |
2.47e-51 |
SMART |
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
98% (119/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 119 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
G |
14: 35,532,146 (GRCm39) |
D143A |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,007,884 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,223,309 (GRCm39) |
|
probably benign |
Het |
| Ablim3 |
T |
A |
18: 61,982,441 (GRCm39) |
D168V |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,673,896 (GRCm39) |
S352F |
probably damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,204,066 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,784,759 (GRCm39) |
K229E |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,831,864 (GRCm39) |
V470D |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,724 (GRCm39) |
|
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,006,175 (GRCm39) |
N121S |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,789,203 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
A |
11: 106,952,518 (GRCm39) |
T2112S |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,285 (GRCm39) |
K498E |
probably benign |
Het |
| Calhm2 |
A |
G |
19: 47,129,469 (GRCm39) |
|
probably null |
Het |
| Capn3 |
A |
T |
2: 120,333,077 (GRCm39) |
|
probably null |
Het |
| Caps2 |
T |
C |
10: 112,031,695 (GRCm39) |
F265L |
possibly damaging |
Het |
| Casp3 |
G |
T |
8: 47,089,262 (GRCm39) |
C170F |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,873,988 (GRCm39) |
R615G |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,451,738 (GRCm39) |
I426T |
probably benign |
Het |
| Cfap53 |
G |
A |
18: 74,433,221 (GRCm39) |
R102H |
possibly damaging |
Het |
| Cfhr3 |
G |
A |
1: 139,521,623 (GRCm39) |
|
noncoding transcript |
Het |
| Col7a1 |
T |
C |
9: 108,809,652 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,513,357 (GRCm39) |
E24G |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,915,782 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,927,332 (GRCm39) |
N1329K |
probably benign |
Het |
| Dnajc11 |
C |
G |
4: 152,054,393 (GRCm39) |
R200G |
probably damaging |
Het |
| Dok3 |
A |
T |
13: 55,672,076 (GRCm39) |
F201I |
probably benign |
Het |
| Dpf2 |
A |
T |
19: 5,952,240 (GRCm39) |
H303Q |
probably damaging |
Het |
| Dtnb |
A |
G |
12: 3,785,039 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,219,555 (GRCm39) |
D129G |
possibly damaging |
Het |
| Elk3 |
T |
C |
10: 93,101,343 (GRCm39) |
E136G |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,072,329 (GRCm39) |
D150G |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,412,881 (GRCm39) |
S570P |
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,656 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
T |
8: 124,035,252 (GRCm39) |
M231K |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,767,714 (GRCm39) |
V358A |
probably benign |
Het |
| Foxp1 |
C |
T |
6: 98,907,083 (GRCm39) |
E666K |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,128,430 (GRCm39) |
|
probably null |
Het |
| Gbp2 |
C |
T |
3: 142,336,519 (GRCm39) |
R290C |
possibly damaging |
Het |
| Gm57859 |
T |
A |
11: 113,578,712 (GRCm39) |
S36T |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,298,693 (GRCm39) |
S343R |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,075,974 (GRCm39) |
M1448K |
probably benign |
Het |
| Hmgn3 |
A |
T |
9: 83,028,482 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
C |
5: 35,003,347 (GRCm39) |
V1274A |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,201,033 (GRCm39) |
D489G |
probably damaging |
Het |
| Kcnip3 |
A |
T |
2: 127,300,317 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,379,632 (GRCm39) |
T647A |
possibly damaging |
Het |
| Krt72 |
T |
C |
15: 101,694,491 (GRCm39) |
R135G |
probably damaging |
Het |
| Larp7 |
T |
A |
3: 127,337,858 (GRCm39) |
K400N |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,198,753 (GRCm39) |
|
probably null |
Het |
| Lima1 |
G |
A |
15: 99,678,353 (GRCm39) |
P696L |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,239 (GRCm39) |
|
probably null |
Het |
| Map1a |
A |
G |
2: 121,129,083 (GRCm39) |
R116G |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,723,999 (GRCm39) |
E327G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,236,788 (GRCm39) |
V123A |
possibly damaging |
Het |
| Megf8 |
A |
C |
7: 25,027,965 (GRCm39) |
H205P |
probably benign |
Het |
| Met |
G |
A |
6: 17,555,631 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
A |
C |
13: 65,234,964 (GRCm39) |
V71G |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,300,733 (GRCm39) |
T599S |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,881,944 (GRCm39) |
D62V |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,612,665 (GRCm39) |
Y895H |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,326,224 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,952,803 (GRCm39) |
Y111N |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,766,113 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
G |
T |
13: 69,781,361 (GRCm39) |
V657L |
probably benign |
Het |
| Or10g1b |
C |
A |
14: 52,627,283 (GRCm39) |
G316* |
probably null |
Het |
| Or4a74 |
T |
A |
2: 89,439,564 (GRCm39) |
N294I |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,083,278 (GRCm39) |
D18G |
probably benign |
Het |
| Or52d1 |
A |
T |
7: 103,756,349 (GRCm39) |
I288F |
possibly damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,371 (GRCm39) |
S148P |
probably damaging |
Het |
| Or5k3 |
G |
A |
16: 58,970,117 (GRCm39) |
M301I |
probably benign |
Het |
| Or5m13b |
A |
T |
2: 85,753,722 (GRCm39) |
I37F |
probably benign |
Het |
| Or6c68 |
T |
A |
10: 129,157,885 (GRCm39) |
M131K |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,276,383 (GRCm39) |
V795D |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,263,286 (GRCm39) |
D155G |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,742,123 (GRCm39) |
V164I |
probably benign |
Het |
| Pgd |
A |
T |
4: 149,241,267 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
G |
A |
1: 135,805,920 (GRCm39) |
R593W |
probably damaging |
Het |
| Polr2l |
A |
T |
7: 141,053,255 (GRCm39) |
V53E |
probably damaging |
Het |
| Ppp4c |
G |
T |
7: 126,386,460 (GRCm39) |
T29K |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,779 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,018,711 (GRCm39) |
S688P |
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,747,586 (GRCm39) |
I28F |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,552 (GRCm39) |
L92P |
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,413,755 (GRCm39) |
E229G |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,274 (GRCm39) |
D147E |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,061,090 (GRCm39) |
G1086D |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,720,519 (GRCm39) |
|
probably null |
Het |
| Sft2d2 |
T |
C |
1: 165,011,430 (GRCm39) |
I126V |
probably benign |
Het |
| Skap1 |
G |
T |
11: 96,614,236 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,200,394 (GRCm39) |
L753* |
probably null |
Het |
| Slc25a5 |
G |
A |
X: 36,059,408 (GRCm39) |
A9T |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,951,278 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
C |
10: 75,899,870 (GRCm39) |
I456S |
possibly damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,642,230 (GRCm39) |
S400C |
probably damaging |
Het |
| Slx1b |
T |
A |
7: 126,291,812 (GRCm39) |
H84L |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,100,008 (GRCm39) |
Y190C |
probably damaging |
Het |
| Stk32b |
T |
C |
5: 37,688,910 (GRCm39) |
Q138R |
probably damaging |
Het |
| Syt6 |
C |
A |
3: 103,528,206 (GRCm39) |
D308E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,044,374 (GRCm39) |
D572N |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,478,605 (GRCm39) |
L109Q |
probably damaging |
Het |
| Tbl1xr1 |
T |
C |
3: 22,233,483 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,544,502 (GRCm39) |
I711T |
probably benign |
Het |
| Trf |
A |
G |
9: 103,100,132 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
A |
G |
7: 101,733,572 (GRCm39) |
T548A |
possibly damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,655,777 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tti1 |
A |
T |
2: 157,835,292 (GRCm39) |
C989S |
probably damaging |
Het |
| Txndc8 |
A |
G |
4: 58,000,256 (GRCm39) |
Y108H |
probably benign |
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,648 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,074 (GRCm39) |
K849R |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,323 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,834,754 (GRCm39) |
S1694R |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,984,038 (GRCm39) |
P3509T |
probably benign |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnt8b |
T |
A |
19: 44,482,106 (GRCm39) |
W40R |
probably benign |
Het |
| Xrra1 |
A |
G |
7: 99,560,175 (GRCm39) |
I384V |
possibly damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,971 (GRCm39) |
H163Q |
probably damaging |
Het |
|
| Other mutations in Myo5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Myo5a
|
APN |
9 |
75,068,779 (GRCm39) |
nonsense |
probably null |
|
|
IGL00547:Myo5a
|
APN |
9 |
75,048,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00788:Myo5a
|
APN |
9 |
75,076,241 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01327:Myo5a
|
APN |
9 |
75,094,820 (GRCm39) |
splice site |
probably benign |
|
|
IGL01687:Myo5a
|
APN |
9 |
75,063,531 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01886:Myo5a
|
APN |
9 |
75,076,372 (GRCm39) |
splice site |
probably benign |
|
|
IGL01945:Myo5a
|
APN |
9 |
75,047,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Myo5a
|
APN |
9 |
75,120,263 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02137:Myo5a
|
APN |
9 |
75,068,817 (GRCm39) |
splice site |
probably null |
|
|
IGL02183:Myo5a
|
APN |
9 |
75,074,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL02427:Myo5a
|
APN |
9 |
75,083,900 (GRCm39) |
splice site |
probably benign |
|
|
IGL02490:Myo5a
|
APN |
9 |
75,043,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Myo5a
|
APN |
9 |
75,118,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02886:Myo5a
|
APN |
9 |
75,059,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Myo5a
|
APN |
9 |
75,122,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03090:Myo5a
|
APN |
9 |
75,028,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Myo5a
|
APN |
9 |
75,081,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03237:Myo5a
|
APN |
9 |
75,037,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Myo5a
|
APN |
9 |
75,023,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
naoki
|
UTSW |
9 |
75,068,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
new_gray
|
UTSW |
9 |
0 () |
missense |
|
|
|
nut
|
UTSW |
9 |
0 () |
splice donor site |
|
|
|
silver_decerebrate
|
UTSW |
9 |
75,071,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
silver_decerebrate_2
|
UTSW |
9 |
75,118,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Myo5a
|
UTSW |
9 |
75,037,423 (GRCm39) |
splice site |
probably benign |
|
|
IGL03050:Myo5a
|
UTSW |
9 |
75,054,191 (GRCm39) |
splice site |
probably null |
|
|
PIT4403001:Myo5a
|
UTSW |
9 |
75,124,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Myo5a
|
UTSW |
9 |
75,063,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Myo5a
|
UTSW |
9 |
75,063,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Myo5a
|
UTSW |
9 |
75,068,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Myo5a
|
UTSW |
9 |
75,067,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0243:Myo5a
|
UTSW |
9 |
75,093,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0395:Myo5a
|
UTSW |
9 |
75,101,259 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0427:Myo5a
|
UTSW |
9 |
75,081,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Myo5a
|
UTSW |
9 |
75,074,319 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0565:Myo5a
|
UTSW |
9 |
75,087,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1457:Myo5a
|
UTSW |
9 |
75,120,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1510:Myo5a
|
UTSW |
9 |
75,078,833 (GRCm39) |
missense |
probably benign |
|
|
R1548:Myo5a
|
UTSW |
9 |
75,079,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Myo5a
|
UTSW |
9 |
75,089,275 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1924:Myo5a
|
UTSW |
9 |
75,023,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Myo5a
|
UTSW |
9 |
75,055,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Myo5a
|
UTSW |
9 |
75,054,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2070:Myo5a
|
UTSW |
9 |
75,089,266 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2075:Myo5a
|
UTSW |
9 |
75,097,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2148:Myo5a
|
UTSW |
9 |
75,087,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Myo5a
|
UTSW |
9 |
75,125,225 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2337:Myo5a
|
UTSW |
9 |
75,111,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Myo5a
|
UTSW |
9 |
75,108,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2392:Myo5a
|
UTSW |
9 |
75,116,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2432:Myo5a
|
UTSW |
9 |
75,120,155 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2568:Myo5a
|
UTSW |
9 |
75,059,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Myo5a
|
UTSW |
9 |
75,030,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2932:Myo5a
|
UTSW |
9 |
75,103,418 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2971:Myo5a
|
UTSW |
9 |
75,023,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4293:Myo5a
|
UTSW |
9 |
75,051,453 (GRCm39) |
missense |
probably benign |
|
|
R4321:Myo5a
|
UTSW |
9 |
75,124,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4450:Myo5a
|
UTSW |
9 |
75,074,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Myo5a
|
UTSW |
9 |
75,108,579 (GRCm39) |
splice site |
probably null |
|
|
R4577:Myo5a
|
UTSW |
9 |
75,124,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Myo5a
|
UTSW |
9 |
75,043,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Myo5a
|
UTSW |
9 |
75,061,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4691:Myo5a
|
UTSW |
9 |
75,087,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4764:Myo5a
|
UTSW |
9 |
75,023,618 (GRCm39) |
intron |
probably benign |
|
|
R4767:Myo5a
|
UTSW |
9 |
75,051,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Myo5a
|
UTSW |
9 |
75,048,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4829:Myo5a
|
UTSW |
9 |
75,043,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Myo5a
|
UTSW |
9 |
75,124,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Myo5a
|
UTSW |
9 |
75,081,360 (GRCm39) |
missense |
probably benign |
|
|
R4947:Myo5a
|
UTSW |
9 |
75,030,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Myo5a
|
UTSW |
9 |
75,081,438 (GRCm39) |
missense |
probably benign |
|
|
R5095:Myo5a
|
UTSW |
9 |
75,091,671 (GRCm39) |
nonsense |
probably null |
|
|
R5095:Myo5a
|
UTSW |
9 |
75,059,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Myo5a
|
UTSW |
9 |
75,037,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Myo5a
|
UTSW |
9 |
75,059,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Myo5a
|
UTSW |
9 |
75,055,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Myo5a
|
UTSW |
9 |
75,061,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Myo5a
|
UTSW |
9 |
75,111,127 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5649:Myo5a
|
UTSW |
9 |
75,079,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5661:Myo5a
|
UTSW |
9 |
75,074,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5665:Myo5a
|
UTSW |
9 |
75,051,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5719:Myo5a
|
UTSW |
9 |
75,059,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Myo5a
|
UTSW |
9 |
75,111,115 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6014:Myo5a
|
UTSW |
9 |
75,074,489 (GRCm39) |
nonsense |
probably null |
|
|
R6344:Myo5a
|
UTSW |
9 |
75,067,791 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6345:Myo5a
|
UTSW |
9 |
75,097,195 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6644:Myo5a
|
UTSW |
9 |
75,054,249 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6712:Myo5a
|
UTSW |
9 |
75,120,182 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6838:Myo5a
|
UTSW |
9 |
75,061,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6866:Myo5a
|
UTSW |
9 |
75,047,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Myo5a
|
UTSW |
9 |
75,067,772 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7108:Myo5a
|
UTSW |
9 |
75,037,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Myo5a
|
UTSW |
9 |
75,078,845 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7164:Myo5a
|
UTSW |
9 |
75,087,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7219:Myo5a
|
UTSW |
9 |
75,028,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Myo5a
|
UTSW |
9 |
75,104,983 (GRCm39) |
missense |
|
|
|
R7620:Myo5a
|
UTSW |
9 |
75,071,418 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7719:Myo5a
|
UTSW |
9 |
75,051,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7810:Myo5a
|
UTSW |
9 |
75,076,292 (GRCm39) |
missense |
probably benign |
|
|
R7810:Myo5a
|
UTSW |
9 |
75,067,747 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7866:Myo5a
|
UTSW |
9 |
75,111,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Myo5a
|
UTSW |
9 |
75,097,182 (GRCm39) |
missense |
|
|
|
R8050:Myo5a
|
UTSW |
9 |
75,089,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8061:Myo5a
|
UTSW |
9 |
75,030,239 (GRCm39) |
nonsense |
probably null |
|
|
R8326:Myo5a
|
UTSW |
9 |
75,125,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8529:Myo5a
|
UTSW |
9 |
75,120,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8824:Myo5a
|
UTSW |
9 |
75,074,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Myo5a
|
UTSW |
9 |
75,091,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9040:Myo5a
|
UTSW |
9 |
75,081,341 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9092:Myo5a
|
UTSW |
9 |
75,054,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9274:Myo5a
|
UTSW |
9 |
75,097,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9293:Myo5a
|
UTSW |
9 |
75,087,312 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9366:Myo5a
|
UTSW |
9 |
75,124,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9410:Myo5a
|
UTSW |
9 |
75,023,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9644:Myo5a
|
UTSW |
9 |
75,043,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Myo5a
|
UTSW |
9 |
75,099,726 (GRCm39) |
missense |
|
|
|
R9748:Myo5a
|
UTSW |
9 |
75,091,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9766:Myo5a
|
UTSW |
9 |
75,078,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0010:Myo5a
|
UTSW |
9 |
75,093,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Myo5a
|
UTSW |
9 |
75,093,318 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTCTCGATGCTATGATGATGT -3'
(R):5'- ACTTGGACTAGGTCAGGACTACAGTG -3'
Sequencing Primer
(F):5'- caggcagaagcaggtgg -3'
(R):5'- GACTAGGTCAGGACTACAGTGTTTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation