Incidental Mutation 'R5074:Myo5a'
ID |
386845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
042663-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R5074 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75081438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1008
(S1008T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000123128
AA Change: S1008T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: S1008T
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: S1008T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: S1008T
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: S1008T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: S1008T
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,210,482 (GRCm39) |
H143Q |
probably benign |
Het |
Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,071,665 (GRCm39) |
E329G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Ampd2 |
A |
T |
3: 107,986,549 (GRCm39) |
M245K |
probably damaging |
Het |
Apob |
G |
A |
12: 8,055,219 (GRCm39) |
|
probably null |
Het |
Apool |
C |
T |
X: 111,259,540 (GRCm39) |
Q60* |
probably null |
Het |
Aqp1 |
A |
T |
6: 55,322,520 (GRCm39) |
I172F |
probably damaging |
Het |
Atp7a |
A |
G |
X: 105,153,374 (GRCm39) |
D1092G |
probably benign |
Het |
Ccdc83 |
A |
T |
7: 89,899,737 (GRCm39) |
F45Y |
probably damaging |
Het |
Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdc25a |
T |
A |
9: 109,713,208 (GRCm39) |
C227S |
possibly damaging |
Het |
Ces1a |
A |
G |
8: 93,759,303 (GRCm39) |
S278P |
possibly damaging |
Het |
Cfap65 |
A |
T |
1: 74,962,137 (GRCm39) |
S695T |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,709,797 (GRCm39) |
|
silent |
Het |
Ctps1 |
A |
T |
4: 120,411,170 (GRCm39) |
L282Q |
probably damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,631,906 (GRCm39) |
F450Y |
probably benign |
Het |
Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
Dennd3 |
G |
A |
15: 73,419,144 (GRCm39) |
R645H |
probably damaging |
Het |
Dnaaf5 |
G |
T |
5: 139,159,962 (GRCm39) |
R620L |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,046,188 (GRCm39) |
L1750* |
probably null |
Het |
Dnah9 |
A |
G |
11: 65,740,866 (GRCm39) |
F4107L |
probably damaging |
Het |
Dnaja3 |
A |
T |
16: 4,514,289 (GRCm39) |
T274S |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,620,480 (GRCm39) |
D514G |
possibly damaging |
Het |
Dst |
A |
C |
1: 34,334,344 (GRCm39) |
K4857N |
probably damaging |
Het |
Dysf |
A |
T |
6: 84,114,254 (GRCm39) |
K1226M |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,097,404 (GRCm39) |
Q409L |
probably damaging |
Het |
Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
H2ab3 |
T |
C |
X: 119,222,543 (GRCm39) |
T84A |
probably damaging |
Het |
Hal |
A |
T |
10: 93,349,904 (GRCm39) |
I555F |
probably damaging |
Het |
Hibadh |
C |
T |
6: 52,597,079 (GRCm39) |
V122M |
possibly damaging |
Het |
Hsd3b3 |
T |
C |
3: 98,649,340 (GRCm39) |
T328A |
possibly damaging |
Het |
Ifi44 |
T |
C |
3: 151,455,269 (GRCm39) |
|
probably benign |
Het |
Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
Inf2 |
A |
T |
12: 112,578,473 (GRCm39) |
|
probably null |
Het |
Itga10 |
C |
T |
3: 96,559,527 (GRCm39) |
Q475* |
probably null |
Het |
Itga6 |
T |
A |
2: 71,656,779 (GRCm39) |
D344E |
probably benign |
Het |
Kcnmb4 |
T |
C |
10: 116,309,102 (GRCm39) |
T109A |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Kiss1r |
C |
A |
10: 79,754,596 (GRCm39) |
S30* |
probably null |
Het |
Lrrc66 |
G |
A |
5: 73,765,354 (GRCm39) |
P563L |
probably damaging |
Het |
Mamdc2 |
T |
C |
19: 23,356,160 (GRCm39) |
D96G |
probably benign |
Het |
Map3k12 |
A |
T |
15: 102,410,267 (GRCm39) |
|
probably null |
Het |
Mc3r |
A |
T |
2: 172,091,533 (GRCm39) |
I252F |
possibly damaging |
Het |
Metrn |
C |
T |
17: 26,015,613 (GRCm39) |
G34D |
probably damaging |
Het |
Mipep |
A |
G |
14: 61,046,462 (GRCm39) |
E328G |
probably benign |
Het |
Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,412,999 (GRCm39) |
T1982S |
unknown |
Het |
Myh8 |
A |
T |
11: 67,196,742 (GRCm39) |
T1792S |
possibly damaging |
Het |
Myo1a |
T |
C |
10: 127,543,288 (GRCm39) |
|
probably null |
Het |
Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
Numbl |
G |
A |
7: 26,980,415 (GRCm39) |
D466N |
probably damaging |
Het |
Nup210 |
T |
A |
6: 91,032,309 (GRCm39) |
I20F |
probably benign |
Het |
Odad1 |
T |
A |
7: 45,578,514 (GRCm39) |
M29K |
probably benign |
Het |
Or10ak12 |
A |
C |
4: 118,666,057 (GRCm39) |
W319G |
possibly damaging |
Het |
Or10p21 |
T |
C |
10: 128,847,213 (GRCm39) |
Y20H |
possibly damaging |
Het |
Or14c46 |
A |
G |
7: 85,918,799 (GRCm39) |
I66T |
probably damaging |
Het |
Or51l14 |
A |
T |
7: 103,100,617 (GRCm39) |
E24D |
probably benign |
Het |
Or52e8b |
A |
T |
7: 104,673,260 (GRCm39) |
M309K |
probably benign |
Het |
Or52n2c |
A |
C |
7: 104,574,700 (GRCm39) |
N90K |
probably benign |
Het |
Or7h8 |
A |
T |
9: 20,123,878 (GRCm39) |
I78F |
possibly damaging |
Het |
Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
Papolg |
G |
A |
11: 23,817,331 (GRCm39) |
T153I |
possibly damaging |
Het |
Pappa |
A |
G |
4: 65,123,365 (GRCm39) |
H900R |
probably benign |
Het |
Pcdh17 |
T |
C |
14: 84,770,782 (GRCm39) |
S1087P |
probably benign |
Het |
Phf11a |
T |
G |
14: 59,521,849 (GRCm39) |
L107F |
possibly damaging |
Het |
Phlpp2 |
A |
T |
8: 110,652,461 (GRCm39) |
I602F |
probably damaging |
Het |
Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
Pilra |
A |
G |
5: 137,833,674 (GRCm39) |
F131L |
probably damaging |
Het |
Pomt2 |
A |
C |
12: 87,180,234 (GRCm39) |
C256G |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,906,742 (GRCm39) |
S1184R |
probably benign |
Het |
Prkaa1 |
G |
T |
15: 5,206,392 (GRCm39) |
R416L |
possibly damaging |
Het |
Prkdc |
C |
A |
16: 15,589,912 (GRCm39) |
R2592S |
probably damaging |
Het |
Prmt2 |
C |
T |
10: 76,058,390 (GRCm39) |
V140I |
probably damaging |
Het |
Prodh |
A |
T |
16: 17,895,653 (GRCm39) |
|
probably null |
Het |
Psg29 |
T |
A |
7: 16,945,763 (GRCm39) |
D444E |
probably damaging |
Het |
Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
Rbm38 |
C |
T |
2: 172,863,875 (GRCm39) |
P15S |
probably benign |
Het |
Riox2 |
T |
C |
16: 59,312,236 (GRCm39) |
S458P |
possibly damaging |
Het |
Rnase4 |
T |
C |
14: 51,342,702 (GRCm39) |
V142A |
possibly damaging |
Het |
Rnf138 |
A |
G |
18: 21,159,204 (GRCm39) |
N244S |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,196,458 (GRCm39) |
L802P |
probably damaging |
Het |
Sfxn4 |
C |
T |
19: 60,839,450 (GRCm39) |
V203M |
probably damaging |
Het |
Skor2 |
G |
T |
18: 76,946,649 (GRCm39) |
E124* |
probably null |
Het |
Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,884,508 (GRCm39) |
L626P |
possibly damaging |
Het |
Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
Snrpd3 |
G |
T |
10: 75,355,227 (GRCm39) |
C20F |
possibly damaging |
Het |
Spag17 |
T |
A |
3: 99,987,434 (GRCm39) |
Y1575N |
possibly damaging |
Het |
St8sia4 |
G |
A |
1: 95,594,910 (GRCm39) |
A26V |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,699,422 (GRCm39) |
I481N |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
Tgm1 |
A |
G |
14: 55,947,392 (GRCm39) |
V323A |
probably damaging |
Het |
Tmco4 |
A |
G |
4: 138,785,433 (GRCm39) |
H501R |
probably damaging |
Het |
Tob1 |
A |
T |
11: 94,104,567 (GRCm39) |
R34S |
possibly damaging |
Het |
Trhr2 |
C |
T |
8: 123,084,110 (GRCm39) |
V297I |
probably benign |
Het |
Trim30d |
A |
C |
7: 104,137,165 (GRCm39) |
V13G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,862,713 (GRCm39) |
V485A |
possibly damaging |
Het |
Trrap |
T |
C |
5: 144,787,989 (GRCm39) |
I3518T |
probably damaging |
Het |
Ttc27 |
T |
C |
17: 75,054,750 (GRCm39) |
L352P |
probably damaging |
Het |
Ush1g |
A |
G |
11: 115,209,123 (GRCm39) |
L357P |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,277,644 (GRCm39) |
H2258R |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,918,037 (GRCm39) |
V308A |
probably damaging |
Het |
Vdr |
A |
G |
15: 97,755,459 (GRCm39) |
S355P |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,215,677 (GRCm39) |
S184P |
probably damaging |
Het |
Xpo4 |
C |
A |
14: 57,822,098 (GRCm39) |
A1073S |
probably benign |
Het |
Zfand2b |
A |
G |
1: 75,147,634 (GRCm39) |
D224G |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,564,704 (GRCm39) |
R240G |
possibly 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 |
R0601:Myo5a
|
UTSW |
9 |
75,081,297 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- TGGAGAAACTGACCAATCTGG -3'
(R):5'- ACAGCTTACTTGTTGATCATGGGG -3'
Sequencing Primer
(F):5'- CTGACCAATCTGGAAGGAGTATAC -3'
(R):5'- GGTAGAGGTATTTGAAAATCACTCG -3'
|
Posted On |
2016-06-06 |