Incidental Mutation 'R1510:Myo5a'
ID |
167857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
039557-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R1510 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75078833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 864
(Y864H)
|
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: Y864H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: Y864H
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: Y864H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: Y864H
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: Y864H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: Y864H
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,115,847 (GRCm39) |
T616S |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
Cyb5r4 |
T |
C |
9: 86,948,696 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
Ltbp3 |
T |
C |
19: 5,798,915 (GRCm39) |
S544P |
probably benign |
Het |
Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
Pkn3 |
T |
C |
2: 29,969,776 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,955,547 (GRCm39) |
V497D |
probably damaging |
Het |
Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
probably benign |
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 |
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'- GTTTACTGGCTGTCCCCATGAACTC -3'
(R):5'- TTGTAGCGTTCCACAGAGCGAG -3'
Sequencing Primer
(F):5'- CTCAGTGTAATGGGACAATCTCTG -3'
(R):5'- AGCGAGCCTCAATTTTGAGTTTC -3'
|
Posted On |
2014-04-13 |