Incidental Mutation 'R7810:Myo5a'
ID |
601101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
045865-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R7810 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75067747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 600
(S600R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123128
AA Change: S600R
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: S600R
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: S600R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: S600R
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: S600R
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: S600R
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 |
0.0984 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (91/92) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,045 (GRCm39) |
E200G |
probably benign |
Het |
Ankfy1 |
C |
T |
11: 72,645,281 (GRCm39) |
Q787* |
probably null |
Het |
Birc6 |
T |
A |
17: 74,855,815 (GRCm39) |
H208Q |
probably damaging |
Het |
Brsk2 |
T |
A |
7: 141,539,157 (GRCm39) |
|
probably null |
Het |
Cabp5 |
T |
A |
7: 13,132,263 (GRCm39) |
F11I |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,435,964 (GRCm39) |
Y1296H |
probably damaging |
Het |
Ccdc88b |
A |
G |
19: 6,826,454 (GRCm39) |
V1087A |
probably benign |
Het |
Cct3 |
C |
T |
3: 88,228,442 (GRCm39) |
T508I |
probably damaging |
Het |
Ceacam9 |
T |
A |
7: 16,457,658 (GRCm39) |
M57K |
possibly damaging |
Het |
Ces1f |
T |
C |
8: 93,983,546 (GRCm39) |
E487G |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,443,032 (GRCm39) |
K278E |
probably damaging |
Het |
Cntnap3 |
T |
A |
13: 64,941,122 (GRCm39) |
H286L |
possibly damaging |
Het |
Dnai7 |
T |
G |
6: 145,140,312 (GRCm39) |
D163A |
probably benign |
Het |
Efr3a |
G |
T |
15: 65,659,022 (GRCm39) |
|
probably benign |
Het |
Fastkd2 |
T |
A |
1: 63,770,851 (GRCm39) |
I69N |
possibly damaging |
Het |
Flg2 |
T |
C |
3: 93,107,548 (GRCm39) |
I11T |
possibly damaging |
Het |
Folr2 |
T |
C |
7: 101,490,102 (GRCm39) |
M84V |
possibly damaging |
Het |
Galnt12 |
T |
C |
4: 47,113,786 (GRCm39) |
F360S |
probably damaging |
Het |
Galr2 |
T |
C |
11: 116,173,946 (GRCm39) |
V192A |
probably benign |
Het |
Gas6 |
A |
T |
8: 13,516,809 (GRCm39) |
I563N |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,324,085 (GRCm39) |
F567L |
possibly damaging |
Het |
Gm12695 |
G |
A |
4: 96,619,608 (GRCm39) |
H423Y |
probably damaging |
Het |
Gm6902 |
T |
C |
7: 22,973,243 (GRCm39) |
T95A |
probably benign |
Het |
Gpr155 |
G |
T |
2: 73,212,296 (GRCm39) |
A109D |
probably damaging |
Het |
Hsdl1 |
T |
C |
8: 120,294,711 (GRCm39) |
D5G |
probably damaging |
Het |
Hyal1 |
C |
T |
9: 107,455,628 (GRCm39) |
P313S |
probably damaging |
Het |
Igfn1 |
G |
A |
1: 135,902,527 (GRCm39) |
T390M |
probably damaging |
Het |
Irx1 |
C |
A |
13: 72,107,917 (GRCm39) |
R255L |
probably benign |
Het |
Itga2 |
T |
A |
13: 115,002,715 (GRCm39) |
T592S |
probably benign |
Het |
Kit |
C |
A |
5: 75,769,982 (GRCm39) |
S131R |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,390 (GRCm39) |
T1444A |
unknown |
Het |
Mapk8ip1 |
C |
T |
2: 92,219,496 (GRCm39) |
E112K |
probably benign |
Het |
Marveld3 |
T |
C |
8: 110,681,266 (GRCm39) |
I210V |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,295,068 (GRCm39) |
I398L |
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,953,309 (GRCm39) |
I530T |
probably benign |
Het |
Mtss2 |
A |
G |
8: 111,452,833 (GRCm39) |
Y26C |
probably damaging |
Het |
Naaladl1 |
A |
G |
19: 6,159,694 (GRCm39) |
D375G |
probably damaging |
Het |
Napepld |
T |
A |
5: 21,888,263 (GRCm39) |
D62V |
possibly damaging |
Het |
Nedd9 |
A |
C |
13: 41,465,483 (GRCm39) |
I719S |
possibly damaging |
Het |
Nes |
T |
A |
3: 87,882,923 (GRCm39) |
M394K |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,231,772 (GRCm39) |
Y1288F |
possibly damaging |
Het |
Nlrp14 |
T |
A |
7: 106,791,782 (GRCm39) |
C822* |
probably null |
Het |
Noa1 |
A |
C |
5: 77,457,071 (GRCm39) |
L278R |
probably damaging |
Het |
Nop16 |
A |
G |
13: 54,737,889 (GRCm39) |
|
probably benign |
Het |
Odr4 |
T |
C |
1: 150,268,659 (GRCm39) |
|
probably benign |
Het |
Or11h7 |
A |
T |
14: 50,891,450 (GRCm39) |
Y252F |
probably benign |
Het |
Or5b12 |
A |
G |
19: 12,897,229 (GRCm39) |
V148A |
probably benign |
Het |
Osbpl10 |
C |
T |
9: 114,890,962 (GRCm39) |
H117Y |
probably benign |
Het |
Oxct1 |
A |
T |
15: 4,077,058 (GRCm39) |
E130D |
probably benign |
Het |
Padi2 |
A |
G |
4: 140,676,575 (GRCm39) |
E571G |
possibly damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
Pdcd11 |
G |
A |
19: 47,086,659 (GRCm39) |
E222K |
possibly damaging |
Het |
Pira12 |
C |
A |
7: 3,897,204 (GRCm39) |
C544F |
probably damaging |
Het |
Plekha2 |
A |
G |
8: 25,578,356 (GRCm39) |
|
probably null |
Het |
Pogz |
T |
C |
3: 94,777,418 (GRCm39) |
L366P |
probably benign |
Het |
Ppp4r3b |
A |
G |
11: 29,138,086 (GRCm39) |
I145V |
probably benign |
Het |
Prkcd |
A |
G |
14: 30,320,407 (GRCm39) |
|
probably null |
Het |
Ptprk |
T |
A |
10: 28,468,853 (GRCm39) |
H1438Q |
probably damaging |
Het |
Rbm4 |
A |
T |
19: 4,842,650 (GRCm39) |
V63E |
possibly damaging |
Het |
Sbk2 |
T |
A |
7: 4,961,938 (GRCm39) |
H116L |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,923,434 (GRCm39) |
T352A |
probably benign |
Het |
Septin9 |
T |
A |
11: 117,250,264 (GRCm39) |
C529* |
probably null |
Het |
Setx |
T |
A |
2: 29,038,663 (GRCm39) |
V1716D |
probably benign |
Het |
Slc19a3 |
C |
T |
1: 82,997,162 (GRCm39) |
V349I |
probably benign |
Het |
Slc27a4 |
C |
A |
2: 29,695,722 (GRCm39) |
R86S |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,696,059 (GRCm39) |
H613R |
possibly damaging |
Het |
Smoc2 |
A |
G |
17: 14,545,884 (GRCm39) |
R58G |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,254,021 (GRCm39) |
N1243Y |
probably damaging |
Het |
Srsf5 |
T |
C |
12: 80,996,720 (GRCm39) |
S261P |
unknown |
Het |
Tab1 |
A |
T |
15: 80,042,999 (GRCm39) |
T398S |
possibly damaging |
Het |
Tas2r131 |
T |
A |
6: 132,934,705 (GRCm39) |
T35S |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,625,714 (GRCm39) |
K1412R |
possibly damaging |
Het |
Tigd4 |
T |
A |
3: 84,502,310 (GRCm39) |
V409E |
possibly damaging |
Het |
Tlr12 |
T |
C |
4: 128,510,501 (GRCm39) |
Q583R |
probably benign |
Het |
Tmprss9 |
T |
A |
10: 80,733,145 (GRCm39) |
C894S |
unknown |
Het |
Topaz1 |
T |
A |
9: 122,578,250 (GRCm39) |
S387T |
probably benign |
Het |
Tsfm |
T |
C |
10: 126,847,558 (GRCm39) |
R178G |
probably benign |
Het |
Ttll13 |
T |
C |
7: 79,902,875 (GRCm39) |
I181T |
probably damaging |
Het |
Ttyh3 |
T |
A |
5: 140,610,896 (GRCm39) |
K97N |
|
Het |
Ubr4 |
A |
G |
4: 139,142,394 (GRCm39) |
E38G |
|
Het |
Ugt2b37 |
T |
C |
5: 87,402,118 (GRCm39) |
Y171C |
probably damaging |
Het |
Unc5b |
C |
A |
10: 60,601,020 (GRCm39) |
M935I |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,362,314 (GRCm39) |
S1606P |
|
Het |
Vmn1r195 |
T |
C |
13: 22,463,244 (GRCm39) |
L238P |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,081 (GRCm39) |
M419L |
probably benign |
Het |
Washc2 |
G |
T |
6: 116,236,020 (GRCm39) |
A1164S |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,042,940 (GRCm39) |
M1937K |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,099,265 (GRCm39) |
L261* |
probably null |
Het |
Wdr64 |
A |
T |
1: 175,559,092 (GRCm39) |
Y285F |
probably benign |
Het |
Wtap |
A |
G |
17: 13,199,797 (GRCm39) |
L62P |
probably damaging |
Het |
Zfp1007 |
A |
C |
5: 109,825,170 (GRCm39) |
Y93* |
probably null |
Het |
Zfp94 |
C |
A |
7: 24,002,498 (GRCm39) |
V315F |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,911,798 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- CCAGTTGGTGTTTAGAGTATAACG -3'
(R):5'- TCCTGTCCTCTAGGCTGAAGAG -3'
Sequencing Primer
(F):5'- AGCGTCTCCATTGGAAGTC -3'
(R):5'- CTCTAGGCTGAAGAGGGAAGGC -3'
|
Posted On |
2019-11-26 |