Incidental Mutation 'R1457:Myo5a'
| ID |
158584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
039512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R1457 (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 C
at 75120347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1715
(M1715T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[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 |
probably damaging
Transcript: ENSMUST00000123128
AA Change: M1715T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: M1715T
| 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 |
noncoding transcript
Transcript: ENSMUST00000136604
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136731
AA Change: M1690T
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: M1690T
| 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 |
possibly damaging
Transcript: ENSMUST00000148144
AA Change: M447T
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593
AA Change: M447T
| 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 |
possibly damaging
Transcript: ENSMUST00000155282
AA Change: M1717T
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: M1717T
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,888,683 (GRCm39) |
I1210F |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,433,705 (GRCm39) |
H688R |
possibly damaging |
Het |
| Arhgap24 |
T |
A |
5: 102,811,972 (GRCm39) |
N66K |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,497,782 (GRCm39) |
G335D |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,381 (GRCm39) |
R488H |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,616,594 (GRCm39) |
V149E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,595 (GRCm39) |
P338Q |
probably benign |
Het |
| Cntln |
G |
T |
4: 85,015,076 (GRCm39) |
M1122I |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,012,768 (GRCm39) |
N302S |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,779,528 (GRCm39) |
R250G |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,665,093 (GRCm39) |
Y268* |
probably null |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,574 (GRCm39) |
P347L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,403,688 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,974,459 (GRCm39) |
V40I |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,860,448 (GRCm39) |
|
probably null |
Het |
| Fcrla |
A |
G |
1: 170,748,573 (GRCm39) |
L190P |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,635 (GRCm39) |
Y40* |
probably null |
Het |
| Gdf7 |
A |
T |
12: 8,348,073 (GRCm39) |
M416K |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,156 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
A |
19: 55,076,608 (GRCm39) |
N198Y |
probably damaging |
Het |
| Grip1 |
C |
T |
10: 119,822,255 (GRCm39) |
S327F |
possibly damaging |
Het |
| Hey2 |
C |
T |
10: 30,710,352 (GRCm39) |
A134T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,428,668 (GRCm39) |
I1341T |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,575,502 (GRCm39) |
L542P |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,064 (GRCm39) |
D234G |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,745,635 (GRCm39) |
I1273R |
probably damaging |
Het |
| Matn1 |
T |
A |
4: 130,677,330 (GRCm39) |
F180I |
possibly damaging |
Het |
| Meikin |
T |
A |
11: 54,261,767 (GRCm39) |
L61* |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,221,872 (GRCm39) |
I199T |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,139,287 (GRCm39) |
S535T |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,971 (GRCm39) |
V54D |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,992,748 (GRCm39) |
V286A |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,998 (GRCm39) |
K426E |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,098,279 (GRCm39) |
N1410K |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,971,269 (GRCm39) |
T399S |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,816 (GRCm39) |
K301* |
probably null |
Het |
| Or1af1 |
A |
C |
2: 37,109,671 (GRCm39) |
T57P |
possibly damaging |
Het |
| Or51a43 |
A |
T |
7: 103,717,666 (GRCm39) |
C191S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,278 (GRCm39) |
N283K |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,492 (GRCm39) |
V217I |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,028,596 (GRCm39) |
S167P |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,714,013 (GRCm39) |
|
probably null |
Het |
| Pde4b |
C |
T |
4: 102,462,373 (GRCm39) |
T511I |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,239,172 (GRCm39) |
|
probably null |
Het |
| Psmd12 |
G |
A |
11: 107,370,472 (GRCm39) |
V24M |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,598,272 (GRCm39) |
M170K |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,374,710 (GRCm39) |
T1064I |
possibly damaging |
Het |
| Ripor3 |
C |
T |
2: 167,834,573 (GRCm39) |
V281M |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,130,904 (GRCm39) |
Q1353K |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,054,965 (GRCm39) |
D383G |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,132,446 (GRCm39) |
T1346M |
probably damaging |
Het |
| Slx1b |
A |
T |
7: 126,291,968 (GRCm39) |
V63E |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,974 (GRCm39) |
D907G |
probably damaging |
Het |
| Src |
G |
A |
2: 157,311,132 (GRCm39) |
V401M |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 34,966,053 (GRCm39) |
K24E |
possibly damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,114 (GRCm39) |
K647R |
probably damaging |
Het |
| Tbl1xr1 |
G |
A |
3: 22,247,333 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
G |
A |
11: 105,147,778 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
A |
15: 99,299,496 (GRCm39) |
I3K |
probably benign |
Het |
| Tmeff2 |
A |
T |
1: 51,221,026 (GRCm39) |
I334F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,670,659 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
T |
A |
9: 57,821,894 (GRCm39) |
I81N |
probably damaging |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,433 (GRCm39) |
Y77C |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,890 (GRCm39) |
C217R |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,603,554 (GRCm39) |
T331A |
probably benign |
Het |
| Vmn1r65 |
A |
G |
7: 6,012,156 (GRCm39) |
V26A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,065,445 (GRCm39) |
V1241G |
possibly damaging |
Het |
| Wtap |
A |
C |
17: 13,200,631 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
C |
A |
4: 136,712,148 (GRCm39) |
A1187S |
possibly damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,990 (GRCm39) |
S20P |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,227 (GRCm39) |
D397G |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,676 (GRCm39) |
S165T |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,891 (GRCm39) |
T487I |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
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 |
|
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 |
|
|
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'- TACCACATGCAAGTGCAGTCCC -3'
(R):5'- TGAGCAATGAGAACCCATCCAGGC -3'
Sequencing Primer
(F):5'- gtatgtgtttgagagagaaagagag -3'
(R):5'- GGCCCAAGAACTGACTCTATATC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation