Incidental Mutation 'R2070:Myo5a'
ID |
227059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
040075-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R2070 (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 75089266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1132
(E1132G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000129281]
[ENSMUST00000136731]
[ENSMUST00000148144]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000123128
AA Change: E1132G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: E1132G
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: E1132G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: E1132G
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: E1132G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: E1132G
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: 97.4%
- 20x: 95.5%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
Ablim2 |
G |
A |
5: 35,955,857 (GRCm39) |
C24Y |
probably damaging |
Het |
Ankle1 |
T |
C |
8: 71,861,988 (GRCm39) |
F497S |
probably damaging |
Het |
Armh3 |
G |
T |
19: 45,879,724 (GRCm39) |
P543Q |
probably damaging |
Het |
Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
Atad5 |
A |
T |
11: 79,988,878 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
Bmi1 |
A |
G |
2: 18,688,851 (GRCm39) |
I207V |
probably benign |
Het |
Bnip3l |
A |
G |
14: 67,226,671 (GRCm39) |
M174T |
probably damaging |
Het |
Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,644,727 (GRCm39) |
V160A |
possibly damaging |
Het |
Ccdc27 |
T |
A |
4: 154,126,270 (GRCm39) |
N73I |
unknown |
Het |
Cdc42bpg |
T |
A |
19: 6,370,518 (GRCm39) |
C1204S |
probably damaging |
Het |
Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,186,377 (GRCm39) |
V824D |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
A |
G |
11: 101,073,805 (GRCm39) |
Y652C |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,554,978 (GRCm39) |
I2033M |
probably benign |
Het |
Cwh43 |
T |
C |
5: 73,578,860 (GRCm39) |
L289P |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,848,081 (GRCm39) |
D529G |
probably damaging |
Het |
Defb28 |
T |
A |
2: 152,362,064 (GRCm39) |
S75T |
probably benign |
Het |
Dennd2a |
A |
T |
6: 39,442,053 (GRCm39) |
V939D |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,186,703 (GRCm39) |
R1866G |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,221,353 (GRCm39) |
|
probably null |
Het |
Ecscr |
T |
G |
18: 35,848,490 (GRCm39) |
N184T |
probably damaging |
Het |
Eif4ebp1 |
G |
T |
8: 27,763,372 (GRCm39) |
R55L |
probably damaging |
Het |
Eml1 |
G |
T |
12: 108,479,258 (GRCm39) |
V344L |
probably damaging |
Het |
Exoc2 |
G |
T |
13: 30,999,353 (GRCm39) |
N901K |
probably benign |
Het |
Fam161b |
T |
A |
12: 84,403,202 (GRCm39) |
I143F |
probably benign |
Het |
Fam180a |
A |
G |
6: 35,302,846 (GRCm39) |
S2P |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,910,666 (GRCm39) |
I1779F |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,064,804 (GRCm39) |
K4920R |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,806,699 (GRCm39) |
V1006E |
probably damaging |
Het |
Glcci1 |
A |
G |
6: 8,558,566 (GRCm39) |
S30G |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,495 (GRCm39) |
S43R |
possibly damaging |
Het |
Hao1 |
T |
C |
2: 134,372,535 (GRCm39) |
T158A |
probably damaging |
Het |
Hic1 |
T |
C |
11: 75,059,885 (GRCm39) |
H154R |
possibly damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,304,431 (GRCm39) |
Y53C |
probably damaging |
Het |
Ipmk |
A |
T |
10: 71,208,579 (GRCm39) |
K122* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,696,395 (GRCm39) |
E518G |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,706,993 (GRCm39) |
T1519A |
probably benign |
Het |
Lfng |
T |
C |
5: 140,598,350 (GRCm39) |
I224T |
possibly damaging |
Het |
Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
Map4k5 |
C |
T |
12: 69,863,111 (GRCm39) |
V629I |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,152,326 (GRCm39) |
D1037G |
probably damaging |
Het |
Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
Mptx2 |
A |
T |
1: 173,102,145 (GRCm39) |
Y181* |
probably null |
Het |
Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
Nedd4l |
T |
G |
18: 65,345,891 (GRCm39) |
F814L |
probably damaging |
Het |
Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
Oit3 |
T |
G |
10: 59,266,835 (GRCm39) |
I224L |
probably benign |
Het |
Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
Pacs2 |
C |
T |
12: 113,024,731 (GRCm39) |
T407I |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,940 (GRCm39) |
I351T |
probably benign |
Het |
Pdcl2 |
A |
T |
5: 76,472,838 (GRCm39) |
|
probably null |
Het |
Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
Phip |
T |
A |
9: 82,757,352 (GRCm39) |
I1607L |
probably benign |
Het |
Plekhd1 |
C |
A |
12: 80,739,681 (GRCm39) |
S10* |
probably null |
Het |
Pramel24 |
T |
G |
4: 143,453,472 (GRCm39) |
Y193* |
probably null |
Het |
Prdm1 |
C |
T |
10: 44,317,408 (GRCm39) |
D505N |
possibly damaging |
Het |
Psmd13 |
T |
C |
7: 140,477,561 (GRCm39) |
V320A |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
Rere |
C |
A |
4: 150,699,047 (GRCm39) |
|
probably benign |
Het |
Rint1 |
T |
C |
5: 24,015,927 (GRCm39) |
S456P |
possibly damaging |
Het |
Scn3a |
T |
C |
2: 65,351,210 (GRCm39) |
Q446R |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,054,323 (GRCm39) |
E210G |
possibly damaging |
Het |
Snrnp200 |
A |
G |
2: 127,079,803 (GRCm39) |
T1891A |
probably benign |
Het |
Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
Spin1 |
T |
C |
13: 51,298,573 (GRCm39) |
|
probably null |
Het |
St14 |
T |
A |
9: 31,002,669 (GRCm39) |
I745F |
probably damaging |
Het |
Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
Tlcd3b |
T |
C |
7: 126,419,012 (GRCm39) |
L4P |
probably benign |
Het |
Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
Uty |
T |
C |
Y: 1,169,193 (GRCm39) |
E414G |
probably benign |
Het |
Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,321,356 (GRCm39) |
D586G |
unknown |
Het |
Zfp106 |
T |
C |
2: 120,354,010 (GRCm39) |
H1490R |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,837,109 (GRCm39) |
V731A |
probably benign |
Het |
Zyg11b |
G |
C |
4: 108,108,016 (GRCm39) |
N463K |
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 |
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'- GATTACAATGAAGACGCTGTGG -3'
(R):5'- AAACTTCTGAGGGATACAGCC -3'
Sequencing Primer
(F):5'- AGACGCTGTGGATATTATTTTTACTG -3'
(R):5'- ACTATTGCTCAGTGGCAGAG -3'
|
Posted On |
2014-09-17 |