Incidental Mutation 'R4863:Myo5a'
| ID |
374670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
042473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R4863 (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 75124789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1781
(K1781N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000136731]
[ENSMUST00000148144]
[ENSMUST00000155282]
|
| AlphaFold |
Q99104 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123128
AA Change: K1779N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: K1779N
| 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 |
probably damaging
Transcript: ENSMUST00000136731
AA Change: K1754N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: K1754N
| 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 damaging
Transcript: ENSMUST00000148144
AA Change: K511N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593
AA Change: K511N
| 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 |
probably damaging
Transcript: ENSMUST00000155282
AA Change: K1781N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: K1781N
| 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 |
0.2044 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (105/106) |
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abcc12 |
T |
A |
8: 87,265,005 (GRCm39) |
I647F |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,172 (GRCm39) |
W384L |
probably damaging |
Het |
| Acvr1 |
A |
G |
2: 58,367,723 (GRCm39) |
L146P |
possibly damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,789,127 (GRCm39) |
M238K |
probably benign |
Het |
| Clmn |
A |
T |
12: 104,763,353 (GRCm39) |
I91N |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,806 (GRCm39) |
L523H |
probably damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,661,476 (GRCm39) |
K437M |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,560,540 (GRCm39) |
V999E |
probably damaging |
Het |
| Dnpep |
T |
C |
1: 75,285,874 (GRCm39) |
|
probably benign |
Het |
| Dok3 |
G |
A |
13: 55,671,270 (GRCm39) |
R434W |
probably damaging |
Het |
| Dpysl5 |
C |
T |
5: 30,941,687 (GRCm39) |
H275Y |
probably benign |
Het |
| Ednra |
A |
T |
8: 78,394,012 (GRCm39) |
N361K |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,695,861 (GRCm39) |
S210R |
probably damaging |
Het |
| Erich3 |
T |
A |
3: 154,470,441 (GRCm39) |
V158E |
unknown |
Het |
| Fam193a |
T |
A |
5: 34,623,549 (GRCm39) |
V1379E |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,699,654 (GRCm39) |
V2304A |
probably damaging |
Het |
| Fcgbp |
A |
C |
7: 27,785,769 (GRCm39) |
D402A |
probably benign |
Het |
| Fkbp14 |
T |
C |
6: 54,562,930 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
G |
A |
11: 54,406,382 (GRCm39) |
V1160I |
possibly damaging |
Het |
| Fsd2 |
T |
C |
7: 81,202,712 (GRCm39) |
K289R |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,701,797 (GRCm39) |
V116A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,020,816 (GRCm39) |
K234* |
probably null |
Het |
| Gm9887 |
A |
G |
12: 69,418,763 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,316,577 (GRCm39) |
|
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,677,528 (GRCm39) |
D250G |
probably damaging |
Het |
| Hapln4 |
G |
A |
8: 70,537,142 (GRCm39) |
V26M |
possibly damaging |
Het |
| Hook3 |
G |
A |
8: 26,528,057 (GRCm39) |
A611V |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,809,412 (GRCm39) |
L1141P |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,164 (GRCm39) |
S388P |
probably damaging |
Het |
| Itga3 |
T |
A |
11: 94,952,793 (GRCm39) |
Q326L |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,346 (GRCm39) |
I729N |
probably damaging |
Het |
| Kcnab2 |
A |
G |
4: 152,486,403 (GRCm39) |
S132P |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,672,850 (GRCm39) |
A2481V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,631,735 (GRCm39) |
|
probably benign |
Het |
| Lce1e |
A |
T |
3: 92,615,178 (GRCm39) |
C56* |
probably null |
Het |
| Lmcd1 |
T |
C |
6: 112,264,832 (GRCm39) |
|
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,562 (GRCm39) |
|
probably null |
Het |
| Lypd8l |
A |
T |
11: 58,503,338 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
G |
A |
12: 69,865,212 (GRCm39) |
P591L |
probably benign |
Het |
| Mapk13 |
C |
A |
17: 28,995,284 (GRCm39) |
D168E |
probably damaging |
Het |
| Marf1 |
A |
C |
16: 13,950,529 (GRCm39) |
H952Q |
possibly damaging |
Het |
| Megf6 |
T |
C |
4: 154,338,738 (GRCm39) |
|
probably null |
Het |
| Mical3 |
T |
C |
6: 121,010,748 (GRCm39) |
I411M |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,965,473 (GRCm39) |
V1174A |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,216 (GRCm39) |
L202Q |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,283,464 (GRCm39) |
M408L |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,300,235 (GRCm39) |
L249P |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,521 (GRCm39) |
|
probably null |
Het |
| Nxpe3 |
A |
T |
16: 55,669,996 (GRCm39) |
Y370N |
probably damaging |
Het |
| P2rx2 |
T |
A |
5: 110,489,434 (GRCm39) |
T167S |
probably benign |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,161 (GRCm39) |
R652L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,334 (GRCm39) |
L722P |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,378,663 (GRCm39) |
I329F |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,828,583 (GRCm39) |
S29T |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,491,123 (GRCm39) |
D173G |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,961 (GRCm39) |
|
probably null |
Het |
| Polr1g |
T |
A |
7: 19,091,684 (GRCm39) |
Q141L |
probably damaging |
Het |
| Pou2f2 |
A |
G |
7: 24,796,533 (GRCm39) |
|
probably benign |
Het |
| Ppp1r14c |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGG |
10: 3,316,702 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
T |
C |
1: 10,073,611 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rab12 |
A |
T |
17: 66,805,103 (GRCm39) |
Y142N |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,572,556 (GRCm39) |
M857R |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,328,243 (GRCm39) |
K2753R |
probably damaging |
Het |
| Rasa4 |
A |
T |
5: 136,132,765 (GRCm39) |
K6* |
probably null |
Het |
| Rasgef1a |
A |
G |
6: 118,066,100 (GRCm39) |
M438V |
probably benign |
Het |
| Recql |
T |
G |
6: 142,304,732 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,211,198 (GRCm39) |
V425A |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,267,001 (GRCm39) |
Y234C |
probably damaging |
Het |
| Sap30l |
T |
A |
11: 57,696,880 (GRCm39) |
L70Q |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,210,828 (GRCm39) |
R1730G |
probably damaging |
Het |
| Serinc5 |
T |
G |
13: 92,827,488 (GRCm39) |
I268R |
probably damaging |
Het |
| Sin3b |
G |
A |
8: 73,471,576 (GRCm39) |
V432I |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,719,649 (GRCm39) |
M203T |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,259,898 (GRCm39) |
N481S |
probably damaging |
Het |
| Sos2 |
G |
A |
12: 69,686,928 (GRCm39) |
T206I |
probably benign |
Het |
| Sp100 |
G |
T |
1: 85,632,724 (GRCm39) |
A132S |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,604 (GRCm39) |
L382* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,531,341 (GRCm39) |
W2533R |
probably benign |
Het |
| Tas2r126 |
A |
G |
6: 42,412,324 (GRCm39) |
T286A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,436,910 (GRCm39) |
K275M |
probably damaging |
Het |
| Ten1 |
A |
T |
11: 116,109,057 (GRCm39) |
K242N |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,665,616 (GRCm39) |
D46V |
possibly damaging |
Het |
| Tial1 |
C |
T |
7: 128,056,752 (GRCm39) |
V1I |
probably damaging |
Het |
| Tle2 |
G |
A |
10: 81,424,725 (GRCm39) |
R649H |
possibly damaging |
Het |
| Tmem178 |
A |
G |
17: 81,252,374 (GRCm39) |
D86G |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,240,872 (GRCm39) |
D528E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,132 (GRCm39) |
T851S |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,399,806 (GRCm39) |
Q414H |
possibly damaging |
Het |
| Yars1 |
A |
T |
4: 129,083,675 (GRCm39) |
|
probably benign |
Het |
| Yipf4 |
A |
G |
17: 74,801,087 (GRCm39) |
Q135R |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,381,334 (GRCm39) |
Y536C |
probably damaging |
Het |
| Zp2 |
T |
G |
7: 119,734,995 (GRCm39) |
Y430S |
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 |
|
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 |
|
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'- AAATAGGGGCACTTTTCCCC -3'
(R):5'- GTATCAATCCTTCCAACTTGCAAG -3'
Sequencing Primer
(F):5'- GGCACTTTTCCCCGAGTTATATTTTG -3'
(R):5'- CCTTCCAACTTGCAAGATATTTTTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation