Incidental Mutation 'R5254:Myo5a'
ID |
399370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5a
|
Ensembl Gene |
ENSMUSG00000034593 |
Gene Name |
myosin VA |
Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
MMRRC Submission |
042825-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R5254 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75037402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 202
(I202F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000123531]
[ENSMUST00000136731]
[ENSMUST00000155282]
|
AlphaFold |
Q99104 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123128
AA Change: I202F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116028 Gene: ENSMUSG00000034593 AA Change: I202F
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 damaging
Transcript: ENSMUST00000136731
AA Change: I202F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120444 Gene: ENSMUSG00000034593 AA Change: I202F
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 |
noncoding transcript
Transcript: ENSMUST00000136871
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155282
AA Change: I202F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117493 Gene: ENSMUSG00000034593 AA Change: I202F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159458
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (82/84) |
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 |
Abhd8 |
G |
T |
8: 71,911,042 (GRCm39) |
C296* |
probably null |
Het |
Adam11 |
T |
A |
11: 102,665,098 (GRCm39) |
Y413* |
probably null |
Het |
Ankhd1 |
A |
G |
18: 36,789,768 (GRCm39) |
I907V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,897 (GRCm39) |
I130T |
probably benign |
Het |
Asic5 |
T |
A |
3: 81,928,294 (GRCm39) |
I419K |
probably damaging |
Het |
Atp4a |
A |
T |
7: 30,414,955 (GRCm39) |
E248V |
probably damaging |
Het |
Avil |
C |
A |
10: 126,847,630 (GRCm39) |
V154L |
probably benign |
Het |
Bclaf1 |
T |
A |
10: 20,199,282 (GRCm39) |
H226Q |
possibly damaging |
Het |
Cald1 |
A |
G |
6: 34,723,351 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
C |
16: 44,652,453 (GRCm39) |
D27A |
possibly damaging |
Het |
Cdsn |
T |
A |
17: 35,863,099 (GRCm39) |
M1K |
probably null |
Het |
Cfap46 |
T |
A |
7: 139,258,430 (GRCm39) |
H281L |
possibly damaging |
Het |
Chaf1a |
T |
C |
17: 56,369,606 (GRCm39) |
F533L |
probably benign |
Het |
Chil4 |
T |
A |
3: 106,126,768 (GRCm39) |
I5F |
probably benign |
Het |
Ctu2 |
A |
T |
8: 123,203,327 (GRCm39) |
R48W |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,993,350 (GRCm39) |
H373L |
unknown |
Het |
Dcaf10 |
T |
A |
4: 45,370,415 (GRCm39) |
Y328N |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,217,012 (GRCm39) |
K1151* |
probably null |
Het |
Ect2 |
T |
C |
3: 27,184,219 (GRCm39) |
D503G |
probably damaging |
Het |
Epm2a |
C |
A |
10: 11,333,089 (GRCm39) |
D307E |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,249,230 (GRCm39) |
D73V |
probably damaging |
Het |
Fam20b |
C |
T |
1: 156,533,310 (GRCm39) |
G102D |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,172,001 (GRCm39) |
N2904S |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,312,500 (GRCm39) |
Q147L |
possibly damaging |
Het |
Fndc11 |
A |
G |
2: 180,863,956 (GRCm39) |
T254A |
possibly damaging |
Het |
Galnt15 |
C |
T |
14: 31,780,244 (GRCm39) |
R514* |
probably null |
Het |
Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,415,032 (GRCm39) |
|
probably null |
Het |
Gm26526 |
A |
T |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
H2-K2 |
T |
C |
17: 34,216,436 (GRCm39) |
T237A |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,857,067 (GRCm39) |
S1010T |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,281,884 (GRCm39) |
T87A |
possibly damaging |
Het |
Kmt2b |
G |
A |
7: 30,268,600 (GRCm39) |
R2010C |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,519,592 (GRCm39) |
P2173S |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,754,803 (GRCm39) |
S512T |
unknown |
Het |
Krtap16-1 |
G |
A |
11: 99,876,424 (GRCm39) |
R327* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,063,711 (GRCm39) |
I745N |
probably benign |
Het |
Lrrk1 |
T |
A |
7: 65,956,855 (GRCm39) |
N372I |
probably benign |
Het |
Lyst |
A |
T |
13: 13,857,655 (GRCm39) |
E2481D |
probably benign |
Het |
Map2k1 |
A |
T |
9: 64,095,027 (GRCm39) |
|
probably benign |
Het |
Mbip |
A |
G |
12: 56,384,228 (GRCm39) |
V215A |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,158,814 (GRCm39) |
V398D |
probably benign |
Het |
Mog |
T |
G |
17: 37,323,264 (GRCm39) |
I225L |
probably benign |
Het |
Mrgprx3-ps |
T |
A |
7: 46,959,184 (GRCm39) |
|
noncoding transcript |
Het |
Muc5b |
C |
T |
7: 141,418,277 (GRCm39) |
S3741L |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,833,677 (GRCm39) |
I818F |
possibly damaging |
Het |
Nfia |
T |
A |
4: 97,902,534 (GRCm39) |
M262K |
probably damaging |
Het |
Nisch |
C |
T |
14: 30,928,524 (GRCm39) |
|
probably null |
Het |
Nkd1 |
A |
G |
8: 89,315,822 (GRCm39) |
D64G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,881,999 (GRCm39) |
K284* |
probably null |
Het |
Or14a259 |
A |
T |
7: 86,013,398 (GRCm39) |
V49E |
possibly damaging |
Het |
Or4k15b |
C |
A |
14: 50,272,135 (GRCm39) |
A242S |
possibly damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,236 (GRCm39) |
I255N |
probably damaging |
Het |
Or52z14 |
T |
G |
7: 103,252,996 (GRCm39) |
I45R |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,612 (GRCm39) |
S138P |
probably damaging |
Het |
Or5j3 |
A |
T |
2: 86,128,265 (GRCm39) |
Y35F |
probably damaging |
Het |
Or8g55 |
A |
T |
9: 39,784,741 (GRCm39) |
T57S |
possibly damaging |
Het |
Or8k24 |
A |
T |
2: 86,216,484 (GRCm39) |
S93T |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,619,878 (GRCm39) |
D556V |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,859,673 (GRCm39) |
D243V |
probably benign |
Het |
Polq |
A |
T |
16: 36,909,681 (GRCm39) |
Q2355L |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc5a4a |
C |
A |
10: 76,018,572 (GRCm39) |
Y506* |
probably null |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
G |
A |
8: 127,193,895 (GRCm39) |
H336Y |
probably damaging |
Het |
Tas2r134 |
T |
G |
2: 51,517,559 (GRCm39) |
F13V |
probably benign |
Het |
Tgfb2 |
A |
G |
1: 186,436,680 (GRCm39) |
Y98H |
probably damaging |
Het |
Tmprss11a |
C |
A |
5: 86,559,665 (GRCm39) |
V376L |
probably damaging |
Het |
Tmprss11f |
T |
A |
5: 86,685,892 (GRCm39) |
K158N |
probably benign |
Het |
Tnip2 |
G |
T |
5: 34,660,922 (GRCm39) |
Q177K |
probably damaging |
Het |
Trp53inp1 |
T |
A |
4: 11,165,075 (GRCm39) |
|
probably null |
Het |
Ttc28 |
C |
T |
5: 111,419,104 (GRCm39) |
P1398S |
probably benign |
Het |
Umodl1 |
T |
G |
17: 31,199,333 (GRCm39) |
I308S |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,839,719 (GRCm39) |
S1942T |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,283,339 (GRCm39) |
N344K |
probably benign |
Het |
Vmn2r25 |
C |
G |
6: 123,802,277 (GRCm39) |
C542S |
probably damaging |
Het |
Wiz |
T |
A |
17: 32,597,470 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,239,803 (GRCm39) |
Y343C |
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 |
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 |
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'- GGCACAAAAGTGGCCATGTC -3'
(R):5'- GAAATACCAACCTTACCGAGTTTTC -3'
Sequencing Primer
(F):5'- TGGACGCACTGAAAGTCACTTTG -3'
(R):5'- AACCTTACCGAGTTTTCAGCTTTC -3'
|
Posted On |
2016-07-06 |