Incidental Mutation 'R0540:Myo7a'
| ID |
49820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
038732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0540 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97721153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1271
(T1271S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000156992]
[ENSMUST00000205746]
|
| AlphaFold |
P97479 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084979
AA Change: T1260S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: T1260S
| 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 damaging
Transcript: ENSMUST00000107122
AA Change: T1266S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: T1266S
| 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: T1271S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: T1271S
| 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 damaging
Transcript: ENSMUST00000107128
AA Change: T1271S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: T1271S
| 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 damaging
Transcript: ENSMUST00000205746
AA Change: T1260S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.7%
|
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,627 (GRCm39) |
T199A |
possibly damaging |
Het |
| Als2cl |
C |
A |
9: 110,724,852 (GRCm39) |
Y775* |
probably null |
Het |
| Ankhd1 |
G |
T |
18: 36,773,333 (GRCm39) |
V59F |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,859,806 (GRCm39) |
I395F |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
| Arl9 |
A |
G |
5: 77,155,118 (GRCm39) |
Y83C |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
| Atxn1 |
G |
A |
13: 45,711,006 (GRCm39) |
S642L |
probably damaging |
Het |
| Bmp8a |
A |
G |
4: 123,209,723 (GRCm39) |
Y322H |
probably damaging |
Het |
| Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,319,749 (GRCm39) |
Y146* |
probably null |
Het |
| Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
| Cd209e |
T |
C |
8: 3,901,265 (GRCm39) |
K130E |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,235,184 (GRCm39) |
D2054G |
probably damaging |
Het |
| Chrna1 |
T |
C |
2: 73,401,815 (GRCm39) |
N161S |
probably damaging |
Het |
| Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
| Cpsf7 |
G |
T |
19: 10,510,682 (GRCm39) |
E135* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,076,460 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cyp2b13 |
G |
A |
7: 25,781,136 (GRCm39) |
V183I |
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
| Dlg1 |
G |
A |
16: 31,656,992 (GRCm39) |
V596I |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
| Edn3 |
C |
A |
2: 174,602,767 (GRCm39) |
P3Q |
probably damaging |
Het |
| Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
| Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,178 (GRCm39) |
V229A |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,727,015 (GRCm39) |
V624A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,886,335 (GRCm39) |
F336L |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
| H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,252,926 (GRCm39) |
V52A |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
| Kmt5a |
T |
A |
5: 124,589,373 (GRCm39) |
N190K |
probably damaging |
Het |
| Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,536,967 (GRCm39) |
I251K |
possibly damaging |
Het |
| Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
| Lrrc45 |
C |
T |
11: 120,605,988 (GRCm39) |
R99* |
probably null |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
| Mllt3 |
G |
A |
4: 87,759,281 (GRCm39) |
P256S |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
| Ncan |
C |
A |
8: 70,567,809 (GRCm39) |
R101L |
possibly damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,253,885 (GRCm39) |
D361G |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
| Nexn |
T |
A |
3: 151,953,879 (GRCm39) |
K192* |
probably null |
Het |
| Nipsnap2 |
A |
T |
5: 129,831,909 (GRCm39) |
Y234F |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,422,497 (GRCm39) |
Y329F |
possibly damaging |
Het |
| Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,440,977 (GRCm39) |
K366I |
probably damaging |
Het |
| Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
| Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,829 (GRCm39) |
F15L |
probably damaging |
Het |
| Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
| Or2w2 |
T |
A |
13: 21,757,948 (GRCm39) |
Y226F |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
| Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,942 (GRCm39) |
I641V |
probably benign |
Het |
| Peli3 |
T |
C |
19: 4,991,939 (GRCm39) |
M1V |
probably null |
Het |
| Pex16 |
T |
A |
2: 92,205,982 (GRCm39) |
L25* |
probably null |
Het |
| Plekhn1 |
C |
A |
4: 156,307,204 (GRCm39) |
A449S |
possibly damaging |
Het |
| Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
| Prdx6 |
A |
C |
1: 161,078,673 (GRCm39) |
L5W |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
| Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
| Rgs6 |
C |
A |
12: 83,106,578 (GRCm39) |
Y151* |
probably null |
Het |
| Ripk4 |
A |
C |
16: 97,545,375 (GRCm39) |
L361R |
probably damaging |
Het |
| Serpinb3d |
C |
T |
1: 107,006,962 (GRCm39) |
D249N |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,630,224 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,731,713 (GRCm39) |
N349K |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,179 (GRCm39) |
T210A |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
T |
4: 63,938,692 (GRCm39) |
V49E |
probably damaging |
Het |
| Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
| Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,980,450 (GRCm39) |
|
probably null |
Het |
| Usp28 |
A |
G |
9: 48,935,360 (GRCm39) |
I104V |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,096 (GRCm39) |
L149S |
probably damaging |
Het |
| Yme1l1 |
T |
A |
2: 23,082,527 (GRCm39) |
M506K |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,247 (GRCm39) |
F98I |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
probably benign |
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 |
|
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 |
|
|
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'- ATGTGACCCTGGAGAGCAGAGTTG -3'
(R):5'- CATCGAAATGTCCCCTCAGAGTGG -3'
Sequencing Primer
(F):5'- GAGAGCTTGACACCATTTCTG -3'
(R):5'- CTCAGAGTGGATACCTGTGAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation