Incidental Mutation 'R9649:Myo5a'
| ID |
726965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5a
|
| Ensembl Gene |
ENSMUSG00000034593 |
| Gene Name |
myosin VA |
| Synonyms |
flail, Myo5, MVa, Dbv, 9630007J19Rik, MyoVA |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R9649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74978297-75130970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75099726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 96
(E96D)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123128]
[ENSMUST00000129281]
[ENSMUST00000136731]
[ENSMUST00000148144]
[ENSMUST00000155282]
|
| AlphaFold |
Q99104 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123128
|
| SMART Domains |
Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
| 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 |
possibly damaging
Transcript: ENSMUST00000129281
AA Change: E130D
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118881
Gene: ENSMUSG00000034593
AA Change: E130D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
129 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593
AA Change: E96D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136731
|
| SMART Domains |
Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
| 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 |
probably benign
Transcript: ENSMUST00000155282
AA Change: E1340D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: E1340D
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
A |
T |
2: 173,561,706 (GRCm39) |
H5L |
unknown |
Het |
| Aatk |
A |
G |
11: 119,901,733 (GRCm39) |
S888P |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,786 (GRCm39) |
K2357* |
probably null |
Het |
| Arl9 |
T |
A |
5: 77,155,139 (GRCm39) |
L90Q |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,924,349 (GRCm39) |
D864G |
possibly damaging |
Het |
| Atxn2 |
T |
C |
5: 121,949,055 (GRCm39) |
V1144A |
probably damaging |
Het |
| Batf3 |
C |
T |
1: 190,830,623 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
C |
A |
10: 89,626,593 (GRCm39) |
T429K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,037,597 (GRCm39) |
E822K |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,575,239 (GRCm39) |
Q602L |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,597,418 (GRCm38) |
E424G |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,004 (GRCm39) |
L972P |
possibly damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,840,672 (GRCm39) |
N80D |
possibly damaging |
Het |
| Cdh1 |
A |
C |
8: 107,388,604 (GRCm39) |
E553D |
possibly damaging |
Het |
| Cdk14 |
T |
A |
5: 5,423,477 (GRCm39) |
E35V |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,450,546 (GRCm39) |
L995P |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,916,673 (GRCm39) |
E334V |
unknown |
Het |
| Colec12 |
T |
A |
18: 9,877,000 (GRCm39) |
I741K |
unknown |
Het |
| Crot |
A |
G |
5: 9,024,170 (GRCm39) |
V342A |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,865,036 (GRCm39) |
S27P |
possibly damaging |
Het |
| Cyp2j9 |
A |
G |
4: 96,460,193 (GRCm39) |
S437P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,743,160 (GRCm39) |
T1001S |
probably benign |
Het |
| Dffa |
G |
A |
4: 149,202,276 (GRCm39) |
V227I |
probably benign |
Het |
| Dnaaf5 |
T |
A |
5: 139,159,909 (GRCm39) |
H602Q |
probably benign |
Het |
| Efcab7 |
G |
T |
4: 99,761,902 (GRCm39) |
K397N |
probably damaging |
Het |
| Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
| Fadd |
G |
A |
7: 144,134,384 (GRCm39) |
T167I |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,796,484 (GRCm39) |
D33G |
probably damaging |
Het |
| Fam237b |
C |
T |
5: 5,625,549 (GRCm39) |
Q82* |
probably null |
Het |
| Fam83h |
G |
A |
15: 75,877,976 (GRCm39) |
R141W |
probably damaging |
Het |
| Fanci |
G |
A |
7: 79,076,954 (GRCm39) |
R564Q |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,054 (GRCm39) |
D2649E |
possibly damaging |
Het |
| Fcrl1 |
A |
G |
3: 87,291,918 (GRCm39) |
T46A |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,143,763 (GRCm39) |
G232D |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,341,145 (GRCm39) |
H1146L |
probably damaging |
Het |
| Fyttd1 |
T |
A |
16: 32,715,472 (GRCm39) |
F133L |
probably benign |
Het |
| Gata2 |
A |
G |
6: 88,179,505 (GRCm39) |
N326D |
probably damaging |
Het |
| Gm7298 |
A |
T |
6: 121,764,491 (GRCm39) |
T1457S |
probably damaging |
Het |
| Hdac1-ps |
A |
T |
17: 78,799,075 (GRCm39) |
Y22F |
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,141,524 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,066,329 (GRCm39) |
D33V |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,292,450 (GRCm39) |
A2447T |
possibly damaging |
Het |
| Hs3st3b1 |
A |
G |
11: 63,812,331 (GRCm39) |
F128S |
probably benign |
Het |
| Hs3st6 |
G |
T |
17: 24,972,226 (GRCm39) |
R56L |
possibly damaging |
Het |
| Hsd17b3 |
C |
T |
13: 64,212,171 (GRCm39) |
M168I |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,885,171 (GRCm39) |
I1018F |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,637,605 (GRCm39) |
D518G |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,501,666 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,363,506 (GRCm39) |
S17T |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,917,521 (GRCm39) |
E158G |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,220,037 (GRCm39) |
W45R |
probably damaging |
Het |
| Lratd1 |
T |
C |
12: 14,200,190 (GRCm39) |
N179S |
probably benign |
Het |
| Lrfn1 |
G |
T |
7: 28,166,255 (GRCm39) |
V550F |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,409,368 (GRCm39) |
K1584E |
probably benign |
Het |
| Lrp4 |
C |
G |
2: 91,338,914 (GRCm39) |
P1782A |
possibly damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,478 (GRCm39) |
S1480P |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,160,015 (GRCm39) |
N748K |
probably benign |
Het |
| Mrpl38 |
G |
A |
11: 116,025,900 (GRCm39) |
T142M |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,481 (GRCm39) |
T64A |
probably benign |
Het |
| Mrps2 |
G |
A |
2: 28,359,764 (GRCm39) |
R207K |
possibly damaging |
Het |
| Nbas |
A |
T |
12: 13,633,417 (GRCm39) |
E2274V |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,338 (GRCm39) |
F111S |
probably damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,652 (GRCm39) |
I26T |
probably benign |
Het |
| Or51ac3 |
T |
C |
7: 103,213,850 (GRCm39) |
D212G |
probably damaging |
Het |
| Or5m10b |
T |
C |
2: 85,699,278 (GRCm39) |
L114P |
possibly damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,819 (GRCm39) |
N294K |
probably damaging |
Het |
| Or6c35 |
T |
A |
10: 129,169,368 (GRCm39) |
I206N |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,900,288 (GRCm39) |
D373E |
probably damaging |
Het |
| Pgd |
A |
C |
4: 149,235,596 (GRCm39) |
F395V |
probably damaging |
Het |
| Pi16 |
A |
G |
17: 29,538,363 (GRCm39) |
M59V |
possibly damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,381,720 (GRCm39) |
T255S |
probably benign |
Het |
| Plch2 |
A |
T |
4: 155,068,516 (GRCm39) |
V1370E |
probably benign |
Het |
| Plec |
A |
G |
15: 76,067,153 (GRCm39) |
I1309T |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 124,440,831 (GRCm38) |
S22R |
|
Het |
| Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
| Ptk2b |
C |
A |
14: 66,413,154 (GRCm39) |
E342* |
probably null |
Het |
| Ptpn23 |
T |
C |
9: 110,215,226 (GRCm39) |
|
probably null |
Het |
| Rfx8 |
A |
C |
1: 39,722,850 (GRCm39) |
S256A |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,370,457 (GRCm39) |
Y4753C |
|
Het |
| S100a10 |
A |
C |
3: 93,471,590 (GRCm39) |
D58A |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,317 (GRCm39) |
K105R |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,028,900 (GRCm39) |
G124S |
probably damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,526,635 (GRCm39) |
T964N |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,774,938 (GRCm39) |
I72F |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,891,482 (GRCm39) |
M282K |
possibly damaging |
Het |
| Tle7 |
T |
C |
8: 110,837,580 (GRCm39) |
F375L |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tmem185b |
G |
T |
1: 119,454,613 (GRCm39) |
V125L |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,144,714 (GRCm39) |
M887T |
probably damaging |
Het |
| Tnfaip8 |
C |
T |
18: 50,223,512 (GRCm39) |
Q83* |
probably null |
Het |
| Tnks |
A |
G |
8: 35,306,089 (GRCm39) |
V1162A |
probably damaging |
Het |
| Tomm70a |
T |
A |
16: 56,961,072 (GRCm39) |
Y342N |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,125,875 (GRCm39) |
D828V |
probably damaging |
Het |
| Ugt8a |
A |
T |
3: 125,708,338 (GRCm39) |
N257K |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vim |
T |
A |
2: 13,579,703 (GRCm39) |
M154K |
probably damaging |
Het |
| Virma |
G |
T |
4: 11,486,045 (GRCm39) |
M1I |
probably null |
Het |
| Zfp715 |
A |
T |
7: 42,950,653 (GRCm39) |
M100K |
probably benign |
Het |
| Zfp748 |
A |
T |
13: 67,690,647 (GRCm39) |
C204* |
probably null |
Het |
| Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
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 |
|
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 |
|
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'- GCCCTCTTCACTTAGTAAAATGCTG -3'
(R):5'- CACTGTGGATTACAAGAAGCAAC -3'
Sequencing Primer
(F):5'- AAATGCTGAAGTATCGTGTGC -3'
(R):5'- GTGGATTACAAGAAGCAACTGTATTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation