Incidental Mutation 'R1789:Myo7a'
ID |
201617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
039820-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1789 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97756302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 10
(V10A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000138627]
[ENSMUST00000205746]
|
AlphaFold |
P97479 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761
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
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761
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: V10A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: V10A
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: V10A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: V10A
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 |
noncoding transcript
Transcript: ENSMUST00000131632
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138627
AA Change: V10A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114944 Gene: ENSMUSG00000030761 AA Change: V10A
Domain | Start | End | E-Value | Type |
Pfam:Myosin_head
|
67 |
139 |
7.1e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153657
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
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: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,184,701 (GRCm39) |
P986L |
probably damaging |
Het |
Acad10 |
A |
T |
5: 121,769,456 (GRCm39) |
Y667N |
possibly damaging |
Het |
Ahi1 |
G |
A |
10: 20,839,014 (GRCm39) |
G121D |
probably benign |
Het |
Ampd1 |
T |
A |
3: 103,006,442 (GRCm39) |
I690N |
possibly damaging |
Het |
Amy1 |
C |
A |
3: 113,351,814 (GRCm39) |
W425L |
possibly damaging |
Het |
Arhgap27 |
A |
T |
11: 103,223,831 (GRCm39) |
V823E |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,579,077 (GRCm39) |
S624P |
probably damaging |
Het |
Arid5b |
T |
C |
10: 68,021,897 (GRCm39) |
H231R |
probably damaging |
Het |
Aspscr1 |
C |
A |
11: 120,579,386 (GRCm39) |
T78N |
probably damaging |
Het |
Auts2 |
T |
A |
5: 131,501,288 (GRCm39) |
T42S |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,781,913 (GRCm39) |
|
probably null |
Het |
Chrna5 |
T |
C |
9: 54,911,935 (GRCm39) |
V245A |
possibly damaging |
Het |
Cntnap5c |
G |
A |
17: 58,320,916 (GRCm39) |
G163R |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,417,465 (GRCm39) |
|
probably null |
Het |
Col5a2 |
T |
C |
1: 45,433,936 (GRCm39) |
Q759R |
probably damaging |
Het |
Comp |
A |
G |
8: 70,829,796 (GRCm39) |
D340G |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,576,143 (GRCm39) |
D1104E |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,002,515 (GRCm39) |
S308T |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,785,368 (GRCm39) |
Y478H |
probably damaging |
Het |
Fam237b |
A |
T |
5: 5,625,652 (GRCm39) |
Q116L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,288,281 (GRCm39) |
Y414C |
probably benign |
Het |
Fbxo10 |
C |
A |
4: 45,046,389 (GRCm39) |
A574S |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,807,906 (GRCm39) |
L1408F |
probably benign |
Het |
Fubp3 |
T |
C |
2: 31,501,747 (GRCm39) |
V425A |
possibly damaging |
Het |
Gm7168 |
A |
T |
17: 14,169,846 (GRCm39) |
R404S |
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,621,083 (GRCm39) |
F299C |
probably damaging |
Het |
Gpr137 |
C |
T |
19: 6,919,425 (GRCm39) |
|
probably benign |
Het |
Grin3b |
T |
C |
10: 79,809,242 (GRCm39) |
S331P |
probably benign |
Het |
Grk3 |
T |
A |
5: 113,089,584 (GRCm39) |
I281F |
probably damaging |
Het |
Hoxb7 |
T |
A |
11: 96,177,607 (GRCm39) |
S18R |
probably damaging |
Het |
Igf1r |
C |
T |
7: 67,864,681 (GRCm39) |
R1160* |
probably null |
Het |
Itfg1 |
A |
G |
8: 86,452,141 (GRCm39) |
|
probably null |
Het |
Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
Kcnk1 |
A |
G |
8: 126,752,123 (GRCm39) |
E243G |
possibly damaging |
Het |
Kif27 |
A |
G |
13: 58,491,822 (GRCm39) |
L439P |
probably damaging |
Het |
Kif2c |
T |
A |
4: 117,024,558 (GRCm39) |
Q279L |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,749,955 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
A |
G |
2: 162,816,422 (GRCm39) |
T821A |
probably benign |
Het |
Lrrc24 |
A |
T |
15: 76,606,778 (GRCm39) |
M206K |
probably benign |
Het |
Mamdc4 |
T |
G |
2: 25,457,634 (GRCm39) |
K460Q |
possibly damaging |
Het |
Maml2 |
C |
G |
9: 13,608,641 (GRCm39) |
L30V |
probably damaging |
Het |
Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
G |
15: 25,726,611 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,246,066 (GRCm39) |
L419Q |
probably damaging |
Het |
Myo6 |
C |
A |
9: 80,207,854 (GRCm39) |
H1115Q |
probably damaging |
Het |
Myoz2 |
C |
T |
3: 122,819,776 (GRCm39) |
R61H |
probably damaging |
Het |
Ncdn |
G |
A |
4: 126,645,796 (GRCm39) |
R38C |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,350,900 (GRCm39) |
T736S |
probably benign |
Het |
Ncor2 |
G |
A |
5: 125,096,954 (GRCm39) |
A2325V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,802,499 (GRCm39) |
V140E |
possibly damaging |
Het |
Nlrp9c |
C |
A |
7: 26,079,915 (GRCm39) |
D704Y |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,377,699 (GRCm39) |
S126C |
probably damaging |
Het |
Or2g7 |
T |
C |
17: 38,378,839 (GRCm39) |
I259T |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,122 (GRCm39) |
F116S |
probably benign |
Het |
Or5w10 |
A |
T |
2: 87,375,327 (GRCm39) |
L187H |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,451 (GRCm39) |
L160* |
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,476 (GRCm39) |
M243T |
possibly damaging |
Het |
Or6d15 |
A |
C |
6: 116,559,658 (GRCm39) |
F83C |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,027,667 (GRCm39) |
I269T |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,845,287 (GRCm39) |
D1299E |
probably damaging |
Het |
Pitx2 |
T |
A |
3: 129,012,403 (GRCm39) |
Y271N |
probably damaging |
Het |
Polk |
T |
C |
13: 96,633,140 (GRCm39) |
E301G |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,557,388 (GRCm39) |
N2230K |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,322,622 (GRCm39) |
E170G |
probably benign |
Het |
Prss55 |
A |
G |
14: 64,313,179 (GRCm39) |
I235T |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,413,217 (GRCm39) |
I724V |
probably benign |
Het |
Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
Rbm26 |
T |
A |
14: 105,354,509 (GRCm39) |
K949N |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,331,047 (GRCm39) |
D2085E |
probably damaging |
Het |
Serpinb7 |
A |
T |
1: 107,378,003 (GRCm39) |
H232L |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,336,069 (GRCm39) |
Q484R |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,745,021 (GRCm39) |
S3044P |
possibly damaging |
Het |
Snrnp48 |
A |
G |
13: 38,405,336 (GRCm39) |
D248G |
possibly damaging |
Het |
Snrpc |
C |
A |
17: 28,064,193 (GRCm39) |
P66Q |
unknown |
Het |
Snrpn |
T |
A |
7: 59,633,207 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
A |
3: 99,846,672 (GRCm39) |
S65R |
possibly damaging |
Het |
Srsf6 |
C |
A |
2: 162,776,408 (GRCm39) |
|
probably benign |
Het |
Stil |
T |
A |
4: 114,898,979 (GRCm39) |
M1203K |
probably benign |
Het |
Syt17 |
T |
C |
7: 118,036,061 (GRCm39) |
T106A |
probably benign |
Het |
Tbx15 |
C |
T |
3: 99,259,562 (GRCm39) |
Q478* |
probably null |
Het |
Tg |
A |
T |
15: 66,609,397 (GRCm39) |
Q319L |
probably benign |
Het |
Thada |
A |
G |
17: 84,755,461 (GRCm39) |
L243P |
probably damaging |
Het |
Thada |
G |
T |
17: 84,755,462 (GRCm39) |
L243I |
probably damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,101 (GRCm39) |
R211G |
probably damaging |
Het |
Togaram1 |
A |
T |
12: 65,049,409 (GRCm39) |
Q1282L |
possibly damaging |
Het |
Tpm3-rs7 |
T |
G |
14: 113,552,379 (GRCm39) |
M91R |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttll7 |
T |
G |
3: 146,621,535 (GRCm39) |
L378R |
probably damaging |
Het |
Tyw1 |
T |
G |
5: 130,287,834 (GRCm39) |
I22R |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,846,711 (GRCm39) |
S1645P |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,120,364 (GRCm39) |
L263P |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,663,621 (GRCm39) |
E1071G |
possibly damaging |
Het |
Vmn2r44 |
G |
T |
7: 8,383,122 (GRCm39) |
D157E |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,285,520 (GRCm39) |
T821I |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,415,389 (GRCm39) |
V793A |
possibly damaging |
Het |
Wdr35 |
G |
T |
12: 9,027,435 (GRCm39) |
|
probably null |
Het |
Zfp277 |
A |
G |
12: 40,414,084 (GRCm39) |
F254L |
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 |
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 |
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'- GGTCACTTCCTACTCTAGACAC -3'
(R):5'- TGGCTGCTCCTCTTCATGAG -3'
Sequencing Primer
(F):5'- TAGACACCTGCCATTGTAGC -3'
(R):5'- TCGGCTCACTCACCTGG -3'
|
Posted On |
2014-06-23 |