Incidental Mutation 'R7483:Myo7a'
ID |
579924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
045557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7483 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97712881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1698
(H1698L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000156992]
[ENSMUST00000205746]
|
AlphaFold |
P97479 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
AA Change: H1698L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761 AA Change: H1698L
Domain | Start | End | E-Value | Type |
MYSc
|
48 |
731 |
N/A |
SMART |
IQ
|
732 |
754 |
2.99e0 |
SMART |
IQ
|
755 |
777 |
8.77e-7 |
SMART |
IQ
|
801 |
823 |
8e0 |
SMART |
IQ
|
824 |
846 |
8.7e0 |
SMART |
low complexity region
|
854 |
889 |
N/A |
INTRINSIC |
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
low complexity region
|
972 |
985 |
N/A |
INTRINSIC |
MyTH4
|
1006 |
1242 |
1.4e-71 |
SMART |
B41
|
1243 |
1458 |
8.82e-42 |
SMART |
SH3
|
1557 |
1622 |
4.93e-7 |
SMART |
MyTH4
|
1698 |
1847 |
3.95e-57 |
SMART |
B41
|
1849 |
2066 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107122
AA Change: H1704L
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761 AA Change: H1704L
Domain | Start | End | E-Value | Type |
MYSc
|
48 |
737 |
N/A |
SMART |
IQ
|
738 |
760 |
2.99e0 |
SMART |
IQ
|
761 |
783 |
8.77e-7 |
SMART |
IQ
|
807 |
829 |
8e0 |
SMART |
IQ
|
830 |
852 |
8.7e0 |
SMART |
low complexity region
|
860 |
895 |
N/A |
INTRINSIC |
low complexity region
|
899 |
922 |
N/A |
INTRINSIC |
low complexity region
|
978 |
991 |
N/A |
INTRINSIC |
MyTH4
|
1012 |
1248 |
1.4e-71 |
SMART |
B41
|
1249 |
1464 |
8.82e-42 |
SMART |
SH3
|
1563 |
1628 |
4.93e-7 |
SMART |
MyTH4
|
1704 |
1853 |
3.95e-57 |
SMART |
B41
|
1855 |
2072 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107127
AA Change: H1709L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: H1709L
Domain | Start | End | E-Value | Type |
MYSc
|
59 |
742 |
N/A |
SMART |
IQ
|
743 |
765 |
2.99e0 |
SMART |
IQ
|
766 |
788 |
8.77e-7 |
SMART |
IQ
|
812 |
834 |
8e0 |
SMART |
IQ
|
835 |
857 |
8.7e0 |
SMART |
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
SH3
|
1568 |
1633 |
4.93e-7 |
SMART |
MyTH4
|
1709 |
1858 |
3.95e-57 |
SMART |
B41
|
1860 |
2077 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107128
AA Change: H1747L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: H1747L
Domain | Start | End | E-Value | Type |
MYSc
|
59 |
742 |
N/A |
SMART |
IQ
|
743 |
765 |
2.99e0 |
SMART |
IQ
|
766 |
788 |
8.77e-7 |
SMART |
IQ
|
812 |
834 |
8e0 |
SMART |
IQ
|
835 |
857 |
8.7e0 |
SMART |
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
SH3
|
1606 |
1671 |
4.93e-7 |
SMART |
MyTH4
|
1747 |
1896 |
3.95e-57 |
SMART |
B41
|
1898 |
2115 |
8.27e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156992
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205746
AA Change: H1698L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,794,075 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,982,186 (GRCm39) |
S1157P |
probably damaging |
Het |
Akap12 |
T |
G |
10: 4,303,967 (GRCm39) |
V364G |
probably benign |
Het |
Ankrd17 |
A |
G |
5: 90,447,855 (GRCm39) |
S229P |
probably benign |
Het |
Apof |
A |
T |
10: 128,104,636 (GRCm39) |
Y5F |
probably benign |
Het |
Arhgap24 |
T |
A |
5: 102,989,174 (GRCm39) |
M94K |
probably benign |
Het |
Ash2l |
G |
T |
8: 26,312,798 (GRCm39) |
D479E |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,245,824 (GRCm39) |
C623S |
probably benign |
Het |
Bmper |
T |
A |
9: 23,395,238 (GRCm39) |
N656K |
probably benign |
Het |
Braf |
T |
C |
6: 39,604,772 (GRCm39) |
I619V |
possibly damaging |
Het |
Brwd1 |
T |
C |
16: 95,857,373 (GRCm39) |
R396G |
probably damaging |
Het |
Car7 |
A |
T |
8: 105,276,216 (GRCm39) |
T234S |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,647,784 (GRCm39) |
I99L |
probably damaging |
Het |
Chrna7 |
C |
A |
7: 62,754,738 (GRCm39) |
V290L |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,755,447 (GRCm39) |
D944E |
probably benign |
Het |
Cplane2 |
A |
G |
4: 140,947,153 (GRCm39) |
D178G |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,677,581 (GRCm39) |
T470A |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,780,908 (GRCm39) |
A31D |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,579 (GRCm39) |
F1115L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,493,283 (GRCm39) |
I1897V |
probably benign |
Het |
Efcab3 |
A |
G |
11: 105,000,112 (GRCm39) |
I234V |
probably benign |
Het |
Eid2b |
T |
G |
7: 27,977,243 (GRCm39) |
L13R |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,679 (GRCm39) |
Y396C |
probably damaging |
Het |
Fam161a |
A |
T |
11: 22,971,006 (GRCm39) |
T395S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,197 (GRCm39) |
R1748G |
probably benign |
Het |
Fdxacb1 |
C |
A |
9: 50,681,451 (GRCm39) |
T124K |
possibly damaging |
Het |
Fer1l6 |
A |
T |
15: 58,513,794 (GRCm39) |
D1563V |
possibly damaging |
Het |
Gm20834 |
T |
C |
Y: 10,323,226 (GRCm39) |
H70R |
probably damaging |
Het |
Gucy2d |
T |
A |
7: 98,098,964 (GRCm39) |
M261K |
probably damaging |
Het |
Hcar2 |
T |
A |
5: 124,002,861 (GRCm39) |
Q214L |
probably benign |
Het |
Hdac11 |
C |
T |
6: 91,136,214 (GRCm39) |
H75Y |
probably damaging |
Het |
Hoxa2 |
C |
A |
6: 52,141,279 (GRCm39) |
A116S |
probably benign |
Het |
Ints2 |
A |
G |
11: 86,106,444 (GRCm39) |
C989R |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,393,950 (GRCm39) |
E36G |
probably damaging |
Het |
Kdm5d |
G |
A |
Y: 914,044 (GRCm39) |
R327Q |
possibly damaging |
Het |
Klhl1 |
T |
C |
14: 96,584,304 (GRCm39) |
M309V |
probably benign |
Het |
Larp4 |
A |
G |
15: 99,889,659 (GRCm39) |
K193E |
probably benign |
Het |
Lmo3 |
C |
T |
6: 138,393,500 (GRCm39) |
C40Y |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,448,306 (GRCm39) |
V417A |
probably benign |
Het |
Med8 |
A |
G |
4: 118,268,176 (GRCm39) |
E34G |
probably damaging |
Het |
Mex3b |
G |
T |
7: 82,517,114 (GRCm39) |
A86S |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,224,245 (GRCm39) |
T1646A |
unknown |
Het |
Myo15b |
A |
T |
11: 115,749,570 (GRCm39) |
E113D |
|
Het |
Myocos |
T |
A |
1: 162,484,678 (GRCm39) |
M44L |
unknown |
Het |
Nalcn |
A |
G |
14: 123,551,499 (GRCm39) |
V1036A |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,325,328 (GRCm39) |
Q924* |
probably null |
Het |
Nol6 |
A |
G |
4: 41,117,424 (GRCm39) |
L923P |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 89,477,232 (GRCm39) |
Y472H |
probably damaging |
Het |
Nudcd1 |
A |
G |
15: 44,269,253 (GRCm39) |
Y136H |
possibly damaging |
Het |
Obox2 |
T |
C |
7: 15,131,241 (GRCm39) |
C116R |
probably damaging |
Het |
Onecut3 |
A |
T |
10: 80,331,310 (GRCm39) |
S157C |
unknown |
Het |
Or10ak11 |
A |
G |
4: 118,687,517 (GRCm39) |
V39A |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,771,472 (GRCm39) |
V201D |
probably benign |
Het |
Or2d2b |
T |
A |
7: 106,705,982 (GRCm39) |
I29F |
probably benign |
Het |
Or4f15 |
T |
C |
2: 111,814,124 (GRCm39) |
I98M |
probably damaging |
Het |
Oscp1 |
C |
T |
4: 125,967,726 (GRCm39) |
R91* |
probably null |
Het |
Pclo |
A |
T |
5: 14,762,606 (GRCm39) |
D408V |
|
Het |
Pde8a |
T |
C |
7: 80,932,581 (GRCm39) |
V81A |
probably benign |
Het |
Pde8b |
T |
A |
13: 95,164,251 (GRCm39) |
D653V |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
T |
C |
12: 32,245,647 (GRCm39) |
Y867C |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Psd4 |
A |
T |
2: 24,294,768 (GRCm39) |
D776V |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,119,334 (GRCm39) |
E156G |
probably benign |
Het |
Rad54b |
A |
G |
4: 11,610,372 (GRCm39) |
Y663C |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,030,955 (GRCm39) |
V78D |
possibly damaging |
Het |
Rbm12 |
T |
C |
2: 155,940,138 (GRCm39) |
I45V |
unknown |
Het |
Scn9a |
A |
G |
2: 66,363,692 (GRCm39) |
V862A |
probably damaging |
Het |
Sdcbp |
T |
C |
4: 6,393,089 (GRCm39) |
I242T |
possibly damaging |
Het |
Slc25a24 |
A |
G |
3: 109,066,751 (GRCm39) |
T302A |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,904,549 (GRCm39) |
|
probably benign |
Het |
Srpk1 |
T |
C |
17: 28,813,192 (GRCm39) |
I517M |
probably benign |
Het |
Tmx4 |
A |
G |
2: 134,481,581 (GRCm39) |
M114T |
probably benign |
Het |
Trhr |
T |
A |
15: 44,092,627 (GRCm39) |
V288D |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,652,351 (GRCm39) |
I42F |
probably benign |
Het |
Ttn |
A |
T |
2: 76,781,856 (GRCm39) |
D1063E |
unknown |
Het |
Tusc3 |
A |
G |
8: 39,538,635 (GRCm39) |
I225V |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,973 (GRCm39) |
S20P |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,032,219 (GRCm39) |
T922A |
unknown |
Het |
Usp38 |
C |
T |
8: 81,741,190 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,738 (GRCm39) |
I140M |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,371 (GRCm39) |
N419K |
possibly damaging |
Het |
Vmn2r55 |
C |
T |
7: 12,404,755 (GRCm39) |
G216D |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wnt7b |
C |
A |
15: 85,421,615 (GRCm39) |
R349L |
possibly damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,098 (GRCm39) |
V35A |
probably benign |
Het |
Zan |
A |
T |
5: 137,445,057 (GRCm39) |
M1734K |
unknown |
Het |
Zfhx4 |
A |
G |
3: 5,477,237 (GRCm39) |
E3284G |
probably damaging |
Het |
Zfp458 |
A |
G |
13: 67,404,978 (GRCm39) |
L487S |
possibly damaging |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
Het |
Zp1 |
A |
G |
19: 10,895,280 (GRCm39) |
L324P |
possibly damaging |
Het |
|
Other mutations in Myo7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Myo7a
|
APN |
7 |
97,751,833 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00785:Myo7a
|
APN |
7 |
97,703,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00840:Myo7a
|
APN |
7 |
97,700,866 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01362:Myo7a
|
APN |
7 |
97,746,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01484:Myo7a
|
APN |
7 |
97,734,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01673:Myo7a
|
APN |
7 |
97,703,915 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Myo7a
|
APN |
7 |
97,732,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01943:Myo7a
|
APN |
7 |
97,714,854 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02188:Myo7a
|
APN |
7 |
97,740,234 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02304:Myo7a
|
APN |
7 |
97,726,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02305:Myo7a
|
APN |
7 |
97,700,836 (GRCm39) |
makesense |
probably null |
|
IGL02331:Myo7a
|
APN |
7 |
97,702,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02386:Myo7a
|
APN |
7 |
97,724,319 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02389:Myo7a
|
APN |
7 |
97,756,198 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Myo7a
|
APN |
7 |
97,740,227 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02839:Myo7a
|
APN |
7 |
97,740,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03193:Myo7a
|
APN |
7 |
97,740,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Myo7a
|
APN |
7 |
97,751,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03384:Myo7a
|
APN |
7 |
97,742,800 (GRCm39) |
missense |
probably damaging |
1.00 |
coward
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
H8786:Myo7a
|
UTSW |
7 |
97,744,985 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03046:Myo7a
|
UTSW |
7 |
97,728,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Myo7a
|
UTSW |
7 |
97,705,974 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4696001:Myo7a
|
UTSW |
7 |
97,712,806 (GRCm39) |
missense |
probably benign |
0.00 |
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R0267:Myo7a
|
UTSW |
7 |
97,703,831 (GRCm39) |
missense |
probably benign |
0.08 |
R0408:Myo7a
|
UTSW |
7 |
97,705,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Myo7a
|
UTSW |
7 |
97,721,144 (GRCm39) |
missense |
probably benign |
0.00 |
R0540:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Myo7a
|
UTSW |
7 |
97,761,357 (GRCm39) |
intron |
probably benign |
|
R0659:Myo7a
|
UTSW |
7 |
97,703,545 (GRCm39) |
splice site |
probably benign |
|
R0735:Myo7a
|
UTSW |
7 |
97,730,387 (GRCm39) |
splice site |
probably benign |
|
R0924:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0930:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R1018:Myo7a
|
UTSW |
7 |
97,756,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1196:Myo7a
|
UTSW |
7 |
97,746,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1331:Myo7a
|
UTSW |
7 |
97,756,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1487:Myo7a
|
UTSW |
7 |
97,703,017 (GRCm39) |
critical splice donor site |
probably null |
|
R1676:Myo7a
|
UTSW |
7 |
97,748,679 (GRCm39) |
critical splice donor site |
probably null |
|
R1695:Myo7a
|
UTSW |
7 |
97,741,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1770:Myo7a
|
UTSW |
7 |
97,761,813 (GRCm39) |
intron |
probably benign |
|
R1781:Myo7a
|
UTSW |
7 |
97,722,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Myo7a
|
UTSW |
7 |
97,756,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1827:Myo7a
|
UTSW |
7 |
97,725,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1864:Myo7a
|
UTSW |
7 |
97,701,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Myo7a
|
UTSW |
7 |
97,704,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Myo7a
|
UTSW |
7 |
97,703,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2229:Myo7a
|
UTSW |
7 |
97,704,117 (GRCm39) |
missense |
probably benign |
0.12 |
R2259:Myo7a
|
UTSW |
7 |
97,718,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R2443:Myo7a
|
UTSW |
7 |
97,744,976 (GRCm39) |
missense |
probably benign |
0.07 |
R2898:Myo7a
|
UTSW |
7 |
97,746,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R2898:Myo7a
|
UTSW |
7 |
97,703,631 (GRCm39) |
nonsense |
probably null |
|
R3158:Myo7a
|
UTSW |
7 |
97,701,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3408:Myo7a
|
UTSW |
7 |
97,730,294 (GRCm39) |
missense |
probably benign |
0.00 |
R4222:Myo7a
|
UTSW |
7 |
97,722,436 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4255:Myo7a
|
UTSW |
7 |
97,721,171 (GRCm39) |
missense |
probably damaging |
0.96 |
R4374:Myo7a
|
UTSW |
7 |
97,751,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R4429:Myo7a
|
UTSW |
7 |
97,702,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R4445:Myo7a
|
UTSW |
7 |
97,715,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Myo7a
|
UTSW |
7 |
97,722,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R5073:Myo7a
|
UTSW |
7 |
97,722,425 (GRCm39) |
nonsense |
probably null |
|
R5138:Myo7a
|
UTSW |
7 |
97,732,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Myo7a
|
UTSW |
7 |
97,714,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5580:Myo7a
|
UTSW |
7 |
97,722,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6079:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
R6138:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
R6451:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6452:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6453:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6454:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6455:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6465:Myo7a
|
UTSW |
7 |
97,711,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6653:Myo7a
|
UTSW |
7 |
97,703,710 (GRCm39) |
missense |
probably damaging |
0.96 |
R6709:Myo7a
|
UTSW |
7 |
97,703,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6917:Myo7a
|
UTSW |
7 |
97,744,970 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7313:Myo7a
|
UTSW |
7 |
97,713,402 (GRCm39) |
missense |
probably damaging |
0.99 |
R7334:Myo7a
|
UTSW |
7 |
97,728,573 (GRCm39) |
missense |
probably benign |
|
R7356:Myo7a
|
UTSW |
7 |
97,751,890 (GRCm39) |
missense |
probably benign |
0.01 |
R7393:Myo7a
|
UTSW |
7 |
97,712,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7422:Myo7a
|
UTSW |
7 |
97,700,833 (GRCm39) |
splice site |
probably null |
|
R7472:Myo7a
|
UTSW |
7 |
97,714,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Myo7a
|
UTSW |
7 |
97,734,655 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7948:Myo7a
|
UTSW |
7 |
97,724,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Myo7a
|
UTSW |
7 |
97,732,833 (GRCm39) |
nonsense |
probably null |
|
R8115:Myo7a
|
UTSW |
7 |
97,715,653 (GRCm39) |
missense |
probably damaging |
0.98 |
R8150:Myo7a
|
UTSW |
7 |
97,712,846 (GRCm39) |
missense |
probably benign |
0.19 |
R8265:Myo7a
|
UTSW |
7 |
97,734,604 (GRCm39) |
missense |
probably benign |
0.00 |
R8289:Myo7a
|
UTSW |
7 |
97,726,376 (GRCm39) |
missense |
probably benign |
|
R8298:Myo7a
|
UTSW |
7 |
97,747,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8518:Myo7a
|
UTSW |
7 |
97,740,270 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8539:Myo7a
|
UTSW |
7 |
97,721,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8557:Myo7a
|
UTSW |
7 |
97,703,081 (GRCm39) |
missense |
probably benign |
0.08 |
R8685:Myo7a
|
UTSW |
7 |
97,746,334 (GRCm39) |
missense |
probably benign |
0.03 |
R8902:Myo7a
|
UTSW |
7 |
97,741,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Myo7a
|
UTSW |
7 |
97,728,465 (GRCm39) |
missense |
probably benign |
0.40 |
R9090:Myo7a
|
UTSW |
7 |
97,740,281 (GRCm39) |
missense |
probably benign |
0.04 |
R9172:Myo7a
|
UTSW |
7 |
97,732,369 (GRCm39) |
missense |
probably benign |
|
R9271:Myo7a
|
UTSW |
7 |
97,740,281 (GRCm39) |
missense |
probably benign |
0.04 |
R9334:Myo7a
|
UTSW |
7 |
97,716,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R9356:Myo7a
|
UTSW |
7 |
97,725,873 (GRCm39) |
missense |
probably benign |
0.11 |
R9444:Myo7a
|
UTSW |
7 |
97,742,698 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9459:Myo7a
|
UTSW |
7 |
97,722,380 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9513:Myo7a
|
UTSW |
7 |
97,746,818 (GRCm39) |
critical splice donor site |
probably null |
|
R9517:Myo7a
|
UTSW |
7 |
97,721,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Myo7a
|
UTSW |
7 |
97,712,937 (GRCm39) |
missense |
probably benign |
0.03 |
R9662:Myo7a
|
UTSW |
7 |
97,747,499 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9709:Myo7a
|
UTSW |
7 |
97,743,536 (GRCm39) |
missense |
possibly damaging |
0.79 |
RF005:Myo7a
|
UTSW |
7 |
97,742,824 (GRCm39) |
missense |
probably benign |
0.42 |
U15987:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
X0028:Myo7a
|
UTSW |
7 |
97,714,932 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Myo7a
|
UTSW |
7 |
97,711,855 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Myo7a
|
UTSW |
7 |
97,744,934 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Myo7a
|
UTSW |
7 |
97,734,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Myo7a
|
UTSW |
7 |
97,701,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGCAGGATGACAAGGTCAC -3'
(R):5'- CTTCTGGAGAAGGTGGCATG -3'
Sequencing Primer
(F):5'- CGGCTGTCCCTTGAAAACTATGG -3'
(R):5'- AGAAGGTGGCATGTGTGTGC -3'
|
Posted On |
2019-10-07 |