Incidental Mutation 'R9271:Myo7a'
ID |
702927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9271 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97740281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 571
(H571R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000205746]
|
AlphaFold |
P97479 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
AA Change: H571R
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761 AA Change: H571R
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: H577R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761 AA Change: H577R
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 damaging
Transcript: ENSMUST00000107127
AA Change: H582R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: H582R
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 |
possibly damaging
Transcript: ENSMUST00000107128
AA Change: H582R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: H582R
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 damaging
Transcript: ENSMUST00000205746
AA Change: H571R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (107/107) |
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: 111 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,901,940 (GRCm39) |
S819T |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,241,698 (GRCm39) |
D1187V |
probably damaging |
Het |
Ak9 |
C |
A |
10: 41,300,623 (GRCm39) |
T1611K |
unknown |
Het |
Als2 |
G |
T |
1: 59,242,189 (GRCm39) |
T622K |
probably benign |
Het |
Ankrd40 |
G |
A |
11: 94,225,262 (GRCm39) |
A98T |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,973,174 (GRCm39) |
L339P |
probably damaging |
Het |
Appl1 |
A |
C |
14: 26,669,084 (GRCm39) |
H363Q |
probably benign |
Het |
Atf6 |
T |
C |
1: 170,622,245 (GRCm39) |
N459D |
probably damaging |
Het |
Ccdc6 |
A |
T |
10: 70,024,993 (GRCm39) |
Q432L |
unknown |
Het |
Ccl21a |
T |
A |
4: 42,773,486 (GRCm39) |
Q84L |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,951,389 (GRCm39) |
I348V |
probably benign |
Het |
Cd300ld2 |
A |
G |
11: 114,904,550 (GRCm39) |
Y106H |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,876,947 (GRCm39) |
E131K |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,403,175 (GRCm39) |
D1095G |
probably damaging |
Het |
Cep85l |
T |
A |
10: 53,157,670 (GRCm39) |
R678* |
probably null |
Het |
Chst3 |
T |
A |
10: 60,021,465 (GRCm39) |
S461C |
probably damaging |
Het |
Clk1 |
A |
G |
1: 58,459,312 (GRCm39) |
I149T |
possibly damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Dap3 |
T |
C |
3: 88,840,913 (GRCm39) |
T75A |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,324,392 (GRCm39) |
F631L |
probably benign |
Het |
Dnah14 |
A |
T |
1: 181,597,325 (GRCm39) |
N3549I |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,931,870 (GRCm39) |
Y3701N |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,752,796 (GRCm39) |
V339A |
possibly damaging |
Het |
Dpp6 |
T |
A |
5: 27,803,832 (GRCm39) |
C259* |
probably null |
Het |
Dqx1 |
A |
G |
6: 83,036,024 (GRCm39) |
T119A |
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,583,310 (GRCm39) |
R469L |
probably benign |
Het |
Eno4 |
C |
T |
19: 58,951,260 (GRCm39) |
A424V |
probably benign |
Het |
Entrep1 |
A |
T |
19: 23,972,221 (GRCm39) |
I161N |
possibly damaging |
Het |
Fads1 |
T |
A |
19: 10,163,162 (GRCm39) |
D146E |
probably damaging |
Het |
Fam171a1 |
C |
T |
2: 3,224,543 (GRCm39) |
T303M |
probably damaging |
Het |
Fbxw20 |
C |
T |
9: 109,050,423 (GRCm39) |
D401N |
probably benign |
Het |
Fcho1 |
T |
A |
8: 72,163,068 (GRCm39) |
T654S |
possibly damaging |
Het |
Flad1 |
C |
A |
3: 89,315,858 (GRCm39) |
E235* |
probably null |
Het |
Flrt2 |
G |
T |
12: 95,745,907 (GRCm39) |
A82S |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,829,386 (GRCm39) |
S124T |
probably benign |
Het |
Galt |
C |
T |
4: 41,756,777 (GRCm39) |
T139I |
probably benign |
Het |
Garin4 |
A |
G |
1: 190,895,153 (GRCm39) |
S497P |
probably damaging |
Het |
Gfod1 |
T |
C |
13: 43,456,861 (GRCm39) |
E38G |
possibly damaging |
Het |
Gm10330 |
A |
G |
12: 23,829,992 (GRCm39) |
I63T |
possibly damaging |
Het |
Gm3033 |
A |
T |
14: 3,846,968 (GRCm38) |
N28I |
|
Het |
Gm49359 |
A |
G |
13: 62,602,867 (GRCm39) |
V111A |
probably benign |
Het |
Gpank1 |
C |
T |
17: 35,340,734 (GRCm39) |
|
probably benign |
Het |
Hck |
T |
C |
2: 152,973,185 (GRCm39) |
L156P |
probably damaging |
Het |
Hcn3 |
G |
T |
3: 89,057,267 (GRCm39) |
R444S |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,988,236 (GRCm39) |
N624S |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,632,309 (GRCm39) |
I876T |
probably damaging |
Het |
Itga9 |
T |
A |
9: 118,500,859 (GRCm39) |
D377E |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
G |
T |
6: 55,944,051 (GRCm39) |
R417L |
probably benign |
Het |
Kcnk1 |
T |
A |
8: 126,752,152 (GRCm39) |
|
probably null |
Het |
Klk1b11 |
C |
T |
7: 43,425,954 (GRCm39) |
L32F |
probably benign |
Het |
Lta4h |
A |
G |
10: 93,310,412 (GRCm39) |
S427G |
probably benign |
Het |
Lxn |
T |
A |
3: 67,368,651 (GRCm39) |
I122F |
probably damaging |
Het |
Lyz1 |
A |
G |
10: 117,124,492 (GRCm39) |
V148A |
possibly damaging |
Het |
Mael |
G |
T |
1: 166,032,424 (GRCm39) |
Q326K |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,923,264 (GRCm39) |
D1151G |
possibly damaging |
Het |
Map3k9 |
C |
A |
12: 81,769,261 (GRCm39) |
G929V |
probably benign |
Het |
Mcoln1 |
A |
G |
8: 3,555,771 (GRCm39) |
Y22C |
probably damaging |
Het |
Mier3 |
G |
T |
13: 111,827,870 (GRCm39) |
M45I |
probably benign |
Het |
Mrpl1 |
T |
C |
5: 96,371,746 (GRCm39) |
V91A |
probably damaging |
Het |
Msra |
T |
C |
14: 64,471,269 (GRCm39) |
|
probably null |
Het |
Myom1 |
T |
A |
17: 71,374,325 (GRCm39) |
W601R |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,505,479 (GRCm39) |
T456I |
probably benign |
Het |
Nags |
A |
T |
11: 102,037,584 (GRCm39) |
H225L |
probably benign |
Het |
Ncaph |
C |
A |
2: 126,958,554 (GRCm39) |
K488N |
probably damaging |
Het |
Nkain3 |
C |
T |
4: 20,484,897 (GRCm39) |
R60H |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,261,944 (GRCm39) |
M698L |
probably benign |
Het |
Nmur2 |
A |
C |
11: 55,931,308 (GRCm39) |
I134M |
probably benign |
Het |
Nrp2 |
A |
C |
1: 62,784,670 (GRCm39) |
E273A |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,468,787 (GRCm39) |
D210G |
possibly damaging |
Het |
Obscn |
A |
G |
11: 59,006,643 (GRCm39) |
F1173S |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,145 (GRCm39) |
C306* |
probably null |
Het |
Otogl |
T |
A |
10: 107,652,974 (GRCm39) |
E1126V |
probably null |
Het |
Pfkl |
T |
C |
10: 77,833,426 (GRCm39) |
I259V |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,893,863 (GRCm39) |
Y291N |
probably benign |
Het |
Piezo2 |
T |
G |
18: 63,163,450 (GRCm39) |
H2156P |
probably damaging |
Het |
Piezo2 |
C |
A |
18: 63,208,790 (GRCm39) |
V1408L |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,819,997 (GRCm39) |
E640V |
unknown |
Het |
Pkd2 |
A |
G |
5: 104,626,959 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
G |
12: 76,622,694 (GRCm39) |
T646A |
probably benign |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,098,224 (GRCm39) |
S838P |
probably damaging |
Het |
Rarb |
A |
T |
14: 16,435,235 (GRCm38) |
Y270* |
probably null |
Het |
Rbm15 |
T |
C |
3: 107,239,312 (GRCm39) |
E362G |
possibly damaging |
Het |
Rcan1 |
A |
G |
16: 92,262,741 (GRCm39) |
F76L |
|
Het |
Rdh19 |
T |
C |
10: 127,696,142 (GRCm39) |
L298P |
probably damaging |
Het |
Rims1 |
T |
A |
1: 22,498,773 (GRCm39) |
H57L |
|
Het |
Rlf |
T |
C |
4: 121,004,751 (GRCm39) |
T1520A |
probably benign |
Het |
Rnase1 |
T |
A |
14: 51,382,964 (GRCm39) |
H130L |
possibly damaging |
Het |
Samd8 |
T |
A |
14: 21,842,569 (GRCm39) |
M360K |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,956,205 (GRCm39) |
L329P |
probably damaging |
Het |
Scube1 |
C |
T |
15: 83,494,394 (GRCm39) |
E878K |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,476,154 (GRCm39) |
Y689C |
probably damaging |
Het |
Semp2l2a |
T |
C |
8: 13,886,697 (GRCm39) |
T465A |
possibly damaging |
Het |
Sgo1 |
T |
C |
17: 53,983,931 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
A |
T |
11: 32,373,361 (GRCm39) |
N843Y |
possibly damaging |
Het |
Slco1a6 |
C |
T |
6: 142,035,575 (GRCm39) |
C583Y |
probably damaging |
Het |
Smg1 |
A |
C |
7: 117,811,786 (GRCm39) |
V88G |
unknown |
Het |
Spata24 |
T |
A |
18: 35,790,054 (GRCm39) |
N146Y |
probably damaging |
Het |
Tcf3 |
C |
A |
10: 80,253,191 (GRCm39) |
V258L |
probably benign |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
C |
17: 3,465,011 (GRCm39) |
Y247H |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,310,604 (GRCm39) |
F173L |
possibly damaging |
Het |
Tpp2 |
A |
G |
1: 43,993,811 (GRCm39) |
E232G |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,174,547 (GRCm39) |
V138E |
probably damaging |
Het |
Ttll3 |
T |
C |
6: 113,369,596 (GRCm39) |
S47P |
probably benign |
Het |
Utp4 |
C |
T |
8: 107,632,857 (GRCm39) |
T280M |
probably damaging |
Het |
Vmn1r123 |
A |
T |
7: 20,896,794 (GRCm39) |
N229Y |
probably benign |
Het |
Vmn1r85 |
A |
T |
7: 12,818,942 (GRCm39) |
Y67* |
probably null |
Het |
Zbtb12 |
T |
A |
17: 35,114,320 (GRCm39) |
V35E |
possibly damaging |
Het |
Zmym6 |
T |
A |
4: 127,017,854 (GRCm39) |
F1212I |
probably 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 |
R7483:Myo7a
|
UTSW |
7 |
97,712,881 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
|
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'- AAGCCAGCTATTGTCCCTTG -3'
(R):5'- ACATGCCATCAAGTGCTTTACC -3'
Sequencing Primer
(F):5'- AGCTATTGTCCCTTGTCCCTAC -3'
(R):5'- ACAAGGTCTCACTGTGTAGC -3'
|
Posted On |
2022-03-25 |