Incidental Mutation 'R1759:Myo5a'
ID |
195200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
039791-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R1759 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75089275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1135
(D1135G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000129281]
[ENSMUST00000136731]
[ENSMUST00000148144]
[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 |
possibly damaging
Transcript: ENSMUST00000123128
AA Change: D1135G
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: D1135G
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: ENSMUST00000129281
|
SMART Domains |
Protein: ENSMUSP00000118881 Gene: ENSMUSG00000034593
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
27 |
N/A |
INTRINSIC |
coiled coil region
|
129 |
181 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130384
|
SMART Domains |
Protein: ENSMUSP00000114803 Gene: ENSMUSG00000034593
Domain | Start | End | E-Value | Type |
coiled coil region
|
95 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136604
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136731
AA Change: D1135G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: D1135G
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: ENSMUST00000148144
|
SMART Domains |
Protein: ENSMUSP00000121158 Gene: ENSMUSG00000034593
Domain | Start | End | E-Value | Type |
coiled coil region
|
71 |
175 |
N/A |
INTRINSIC |
Blast:DIL
|
275 |
305 |
4e-13 |
BLAST |
Blast:DIL
|
330 |
355 |
5e-6 |
BLAST |
DIL
|
417 |
522 |
2.47e-51 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149032
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155282
AA Change: D1135G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: D1135G
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: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.5%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,094,272 (GRCm39) |
M53L |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,184,674 (GRCm39) |
D944G |
probably benign |
Het |
Ankdd1b |
T |
C |
13: 96,556,211 (GRCm39) |
Y433C |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,209,805 (GRCm39) |
|
probably null |
Het |
Ap1g1 |
G |
A |
8: 110,559,853 (GRCm39) |
G260E |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp13a4 |
T |
A |
16: 29,275,429 (GRCm39) |
T352S |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,024,729 (GRCm39) |
N166Y |
possibly damaging |
Het |
Ces2h |
T |
A |
8: 105,743,243 (GRCm39) |
D159E |
probably damaging |
Het |
Chd1 |
T |
A |
17: 17,607,533 (GRCm39) |
D360E |
probably benign |
Het |
Col16a1 |
G |
T |
4: 129,978,062 (GRCm39) |
G781V |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,808,045 (GRCm39) |
E1001V |
unknown |
Het |
Cracdl |
A |
T |
1: 37,664,791 (GRCm39) |
I369N |
probably benign |
Het |
Cyp3a59 |
T |
G |
5: 146,035,060 (GRCm39) |
M246R |
probably benign |
Het |
Dcn |
T |
C |
10: 97,349,517 (GRCm39) |
V263A |
probably benign |
Het |
Dnttip2 |
A |
G |
3: 122,069,798 (GRCm39) |
N338D |
probably benign |
Het |
Entpd1 |
G |
T |
19: 40,600,968 (GRCm39) |
|
probably null |
Het |
Epb41l1 |
A |
G |
2: 156,363,894 (GRCm39) |
D801G |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,864,762 (GRCm39) |
K23* |
probably null |
Het |
Gbe1 |
T |
C |
16: 70,284,929 (GRCm39) |
M417T |
probably benign |
Het |
Gmnc |
T |
A |
16: 26,784,497 (GRCm39) |
S3C |
possibly damaging |
Het |
Gpr156 |
T |
C |
16: 37,768,583 (GRCm39) |
S35P |
probably damaging |
Het |
Grid1 |
T |
C |
14: 35,167,988 (GRCm39) |
M504T |
possibly damaging |
Het |
Gsdma3 |
T |
C |
11: 98,526,071 (GRCm39) |
V265A |
possibly damaging |
Het |
Hsd3b3 |
A |
T |
3: 98,649,399 (GRCm39) |
I308N |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,494,732 (GRCm39) |
D49G |
probably benign |
Het |
Ipmk |
C |
A |
10: 71,217,133 (GRCm39) |
Q227K |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,181,320 (GRCm39) |
D88V |
probably damaging |
Het |
Kansl1l |
C |
T |
1: 66,841,047 (GRCm39) |
M84I |
probably damaging |
Het |
Kcnab2 |
T |
G |
4: 152,477,509 (GRCm39) |
K363Q |
probably damaging |
Het |
Kdm7a |
C |
A |
6: 39,124,633 (GRCm39) |
|
probably null |
Het |
Kiss1r |
T |
C |
10: 79,757,612 (GRCm39) |
L322P |
probably damaging |
Het |
Lce1e |
A |
T |
3: 92,615,178 (GRCm39) |
C56* |
probably null |
Het |
Lrpprc |
T |
C |
17: 85,047,509 (GRCm39) |
K908E |
probably damaging |
Het |
Mak |
C |
A |
13: 41,210,110 (GRCm39) |
W42L |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,671,519 (GRCm39) |
T936A |
probably benign |
Het |
Marchf7 |
C |
T |
2: 60,064,888 (GRCm39) |
S388F |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,012,182 (GRCm39) |
S88R |
probably damaging |
Het |
Mgat2 |
A |
T |
12: 69,232,301 (GRCm39) |
I292F |
probably benign |
Het |
Myh3 |
C |
A |
11: 66,987,717 (GRCm39) |
R1397S |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,983,956 (GRCm39) |
E1667G |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,450,369 (GRCm39) |
T43A |
probably damaging |
Het |
Nip7 |
A |
G |
8: 107,784,767 (GRCm39) |
N124S |
probably benign |
Het |
Or3a1 |
G |
A |
11: 74,225,808 (GRCm39) |
S83F |
possibly damaging |
Het |
Or51l14 |
T |
C |
7: 103,101,356 (GRCm39) |
S271P |
probably benign |
Het |
Or6c75 |
T |
A |
10: 129,336,775 (GRCm39) |
S7R |
probably benign |
Het |
Or7g25 |
C |
T |
9: 19,160,384 (GRCm39) |
V104I |
probably benign |
Het |
Or8b55 |
T |
C |
9: 38,727,194 (GRCm39) |
Y132H |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,733,326 (GRCm39) |
L731P |
probably damaging |
Het |
Pcnx2 |
G |
A |
8: 126,500,717 (GRCm39) |
P1458S |
probably damaging |
Het |
Pfpl |
A |
G |
19: 12,407,224 (GRCm39) |
T492A |
probably damaging |
Het |
Pgm1 |
A |
G |
4: 99,824,305 (GRCm39) |
D326G |
probably damaging |
Het |
Plekhh1 |
T |
A |
12: 79,119,535 (GRCm39) |
Y953N |
probably damaging |
Het |
Pnkd |
G |
A |
1: 74,387,922 (GRCm39) |
A195T |
probably damaging |
Het |
Ppib |
C |
T |
9: 65,968,764 (GRCm39) |
Q51* |
probably null |
Het |
Ppip5k1 |
G |
T |
2: 121,181,067 (GRCm39) |
T13K |
probably benign |
Het |
Psmg2 |
A |
T |
18: 67,781,246 (GRCm39) |
S113C |
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,974,038 (GRCm39) |
M1584T |
possibly damaging |
Het |
Rbm12b1 |
A |
C |
4: 12,145,424 (GRCm39) |
R465S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,287 (GRCm39) |
Y1055H |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,996,922 (GRCm39) |
I1250K |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,373,401 (GRCm39) |
V1287F |
probably damaging |
Het |
Sgce |
A |
T |
6: 4,689,765 (GRCm39) |
I356N |
probably damaging |
Het |
Sh3tc1 |
C |
T |
5: 35,863,248 (GRCm39) |
E980K |
possibly damaging |
Het |
Sil1 |
T |
C |
18: 35,551,151 (GRCm39) |
E68G |
possibly damaging |
Het |
Slc18a1 |
A |
G |
8: 69,518,237 (GRCm39) |
I259T |
possibly damaging |
Het |
Slc6a20b |
A |
C |
9: 123,438,062 (GRCm39) |
|
probably null |
Het |
Smg7 |
G |
T |
1: 152,724,597 (GRCm39) |
T536K |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,273,192 (GRCm39) |
Y84C |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,216,056 (GRCm39) |
*50C |
probably null |
Het |
Speg |
A |
T |
1: 75,377,806 (GRCm39) |
M855L |
possibly damaging |
Het |
Srrt |
G |
T |
5: 137,301,212 (GRCm39) |
H71Q |
probably damaging |
Het |
St6galnac5 |
A |
G |
3: 152,552,130 (GRCm39) |
S146P |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,299,369 (GRCm39) |
Q962L |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,566,278 (GRCm39) |
H1441R |
probably damaging |
Het |
Tmem45a |
C |
T |
16: 56,642,765 (GRCm39) |
M135I |
probably benign |
Het |
Tpr |
A |
T |
1: 150,305,275 (GRCm39) |
E1521D |
probably benign |
Het |
Uba3 |
C |
T |
6: 97,173,865 (GRCm39) |
G107R |
probably damaging |
Het |
Unc45b |
G |
T |
11: 82,820,325 (GRCm39) |
V590F |
probably benign |
Het |
Vmn1r14 |
A |
T |
6: 57,211,297 (GRCm39) |
T292S |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,755 (GRCm39) |
N773K |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
Wfs1 |
G |
C |
5: 37,124,359 (GRCm39) |
A844G |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,836,412 (GRCm39) |
T71A |
possibly damaging |
Het |
Zfp507 |
C |
A |
7: 35,475,403 (GRCm39) |
A145S |
probably damaging |
Het |
Zfp971 |
A |
T |
2: 177,675,722 (GRCm39) |
E440D |
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 |
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 |
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'- GCATTTAGCCACCAGTGCAAATCAC -3'
(R):5'- GCAGAAACTTCTGAGGGATACAGCC -3'
Sequencing Primer
(F):5'- GTGCAAATCACTGAGTGAAGATTAC -3'
(R):5'- tggcagagcacatgcttac -3'
|
Posted On |
2014-05-23 |