Incidental Mutation 'R2011:Myo7a'
ID |
219697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
040020-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2011 (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 T
at 97703915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1946
(V1946E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000156992]
[ENSMUST00000205746]
|
AlphaFold |
P97479 |
PDB Structure |
Structure of myosin VIIa MyTH4-FERM-SH3 in complex with the CEN1 of Sans [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
AA Change: V1935E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761 AA Change: V1935E
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: V1941E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761 AA Change: V1941E
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 |
possibly damaging
Transcript: ENSMUST00000107127
AA Change: V1946E
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: V1946E
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: V1984E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: V1984E
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: V1935E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 107 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
A |
T |
14: 8,042,742 (GRCm38) |
T100S |
probably benign |
Het |
Adam6a |
T |
C |
12: 113,508,998 (GRCm39) |
I457T |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,246,996 (GRCm39) |
N863S |
probably benign |
Het |
Agk |
C |
A |
6: 40,353,168 (GRCm39) |
D177E |
probably benign |
Het |
Alg9 |
C |
T |
9: 50,699,500 (GRCm39) |
A209V |
probably damaging |
Het |
Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
Bpi |
A |
T |
2: 158,103,272 (GRCm39) |
H89L |
probably damaging |
Het |
C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
Cblc |
T |
A |
7: 19,518,747 (GRCm39) |
D452V |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,612,473 (GRCm39) |
T231A |
probably benign |
Het |
Ccdc112 |
A |
G |
18: 46,420,499 (GRCm39) |
L417P |
probably damaging |
Het |
Ccdc34 |
G |
A |
2: 109,874,649 (GRCm39) |
R336Q |
possibly damaging |
Het |
CK137956 |
A |
G |
4: 127,844,829 (GRCm39) |
S305P |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,969 (GRCm39) |
D612G |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,059,360 (GRCm39) |
T692A |
probably benign |
Het |
Copg2 |
A |
T |
6: 30,793,676 (GRCm39) |
|
probably null |
Het |
Ctnna2 |
T |
A |
6: 76,950,774 (GRCm39) |
I566F |
possibly damaging |
Het |
Cux2 |
C |
T |
5: 121,999,389 (GRCm39) |
D1184N |
probably benign |
Het |
Dclk3 |
A |
G |
9: 111,297,422 (GRCm39) |
E322G |
probably benign |
Het |
Ddx41 |
A |
T |
13: 55,681,906 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
G |
A |
12: 69,243,559 (GRCm39) |
P107S |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,261,428 (GRCm39) |
E578G |
probably damaging |
Het |
Exd1 |
A |
G |
2: 119,359,144 (GRCm39) |
|
probably benign |
Het |
Fat2 |
G |
A |
11: 55,173,583 (GRCm39) |
P2377S |
probably damaging |
Het |
Fbxl18 |
T |
C |
5: 142,858,214 (GRCm39) |
T741A |
probably benign |
Het |
Fgr |
C |
A |
4: 132,724,832 (GRCm39) |
A311E |
probably damaging |
Het |
Fmo4 |
T |
C |
1: 162,626,458 (GRCm39) |
T363A |
probably damaging |
Het |
Fsbp |
T |
C |
4: 11,584,006 (GRCm39) |
V235A |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,805,554 (GRCm39) |
H366L |
probably benign |
Het |
Gm43302 |
T |
C |
5: 105,438,846 (GRCm39) |
N14S |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,124,764 (GRCm39) |
|
noncoding transcript |
Het |
Gm57858 |
A |
T |
3: 36,064,827 (GRCm39) |
C515* |
probably null |
Het |
Gpr21 |
A |
G |
2: 37,407,547 (GRCm39) |
E31G |
probably damaging |
Het |
Gucy1b2 |
G |
T |
14: 62,646,207 (GRCm39) |
N560K |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,553,085 (GRCm39) |
Q2535R |
probably benign |
Het |
Hnrnpm |
A |
T |
17: 33,883,598 (GRCm39) |
N264K |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,734,723 (GRCm39) |
I219L |
possibly damaging |
Het |
Ifi211 |
A |
G |
1: 173,735,169 (GRCm39) |
S87P |
probably damaging |
Het |
Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
Iqca1 |
T |
C |
1: 89,973,348 (GRCm39) |
N808S |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,408,470 (GRCm39) |
I94V |
probably benign |
Het |
Lrba |
A |
T |
3: 86,217,324 (GRCm39) |
E517V |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,130,515 (GRCm39) |
E37G |
possibly damaging |
Het |
Med23 |
T |
A |
10: 24,755,653 (GRCm39) |
F83L |
possibly damaging |
Het |
Micu2 |
T |
C |
14: 58,191,590 (GRCm39) |
|
probably null |
Het |
Mrgprx2 |
A |
T |
7: 48,132,282 (GRCm39) |
C179S |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,215,004 (GRCm39) |
T1236A |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,885,122 (GRCm38) |
Y695F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,636,422 (GRCm39) |
I508F |
possibly damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,141 (GRCm39) |
S91P |
probably damaging |
Het |
Or14a260 |
A |
T |
7: 85,984,955 (GRCm39) |
Y216* |
probably null |
Het |
Or2ag13 |
T |
C |
7: 106,472,634 (GRCm39) |
I273V |
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,476,233 (GRCm39) |
I78N |
probably damaging |
Het |
Or8k23 |
A |
T |
2: 86,186,530 (GRCm39) |
H65Q |
possibly damaging |
Het |
Or9s13 |
T |
C |
1: 92,548,471 (GRCm39) |
V281A |
probably benign |
Het |
Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
P2ry10 |
A |
C |
X: 106,146,241 (GRCm39) |
I59L |
probably damaging |
Het |
Parp11 |
A |
G |
6: 127,454,854 (GRCm39) |
N124S |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,876,971 (GRCm39) |
N175K |
probably damaging |
Het |
Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
Phc2 |
T |
A |
4: 128,617,378 (GRCm39) |
V468E |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,192,815 (GRCm39) |
T1605A |
probably damaging |
Het |
Pik3cb |
A |
T |
9: 98,987,632 (GRCm39) |
Y35* |
probably null |
Het |
Piwil2 |
A |
T |
14: 70,664,083 (GRCm39) |
M22K |
probably damaging |
Het |
Plag1 |
A |
G |
4: 3,904,889 (GRCm39) |
F101L |
probably damaging |
Het |
Pomt2 |
A |
G |
12: 87,158,173 (GRCm39) |
L680P |
possibly damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,465,700 (GRCm39) |
|
probably null |
Het |
Prkag2 |
C |
T |
5: 25,076,052 (GRCm39) |
|
probably null |
Het |
Prkg1 |
T |
C |
19: 31,641,542 (GRCm39) |
D47G |
possibly damaging |
Het |
Prl6a1 |
G |
A |
13: 27,499,352 (GRCm39) |
G45D |
probably benign |
Het |
Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
Rlig1 |
T |
G |
10: 100,419,820 (GRCm39) |
D58A |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,777,797 (GRCm39) |
I459N |
probably damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,102 (GRCm39) |
|
probably benign |
Het |
Rundc3b |
T |
A |
5: 8,562,409 (GRCm39) |
|
probably null |
Het |
Scube3 |
A |
G |
17: 28,387,132 (GRCm39) |
T877A |
probably damaging |
Het |
Sh2d4a |
A |
T |
8: 68,799,394 (GRCm39) |
Q421L |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Slco1c1 |
T |
A |
6: 141,500,833 (GRCm39) |
F437L |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 73,996,419 (GRCm39) |
A329V |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
Spen |
A |
T |
4: 141,200,640 (GRCm39) |
N2662K |
probably damaging |
Het |
Sptb |
G |
C |
12: 76,679,246 (GRCm39) |
R70G |
possibly damaging |
Het |
Stk3 |
A |
G |
15: 35,072,644 (GRCm39) |
S136P |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
Tbx5 |
T |
C |
5: 119,979,971 (GRCm39) |
|
probably null |
Het |
Tchh |
G |
A |
3: 93,354,268 (GRCm39) |
R1236Q |
unknown |
Het |
Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
Tmem151a |
C |
T |
19: 5,132,966 (GRCm39) |
R80H |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,722 (GRCm39) |
L288P |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,334,698 (GRCm39) |
I659V |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
Ttc5 |
C |
A |
14: 51,019,007 (GRCm39) |
E37* |
probably null |
Het |
Uvrag |
A |
G |
7: 98,589,096 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
T |
A |
7: 5,457,283 (GRCm39) |
D159V |
probably damaging |
Het |
Vmn2r78 |
G |
A |
7: 86,604,287 (GRCm39) |
V822M |
possibly damaging |
Het |
Vnn1 |
C |
A |
10: 23,770,869 (GRCm39) |
Y32* |
probably null |
Het |
Wrn |
A |
G |
8: 33,726,432 (GRCm39) |
V1380A |
probably benign |
Het |
Zc3h14 |
A |
C |
12: 98,746,527 (GRCm39) |
S579R |
possibly damaging |
Het |
Zfp277 |
G |
A |
12: 40,367,217 (GRCm39) |
Q480* |
probably null |
Het |
Zfp456 |
G |
A |
13: 67,514,993 (GRCm39) |
Q238* |
probably null |
Het |
Zranb3 |
T |
A |
1: 128,019,638 (GRCm39) |
T35S |
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 |
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 |
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'- TTCCTGTCAGAAGCAGAGCAG -3'
(R):5'- CTTTGTCCGACACCTGACAG -3'
Sequencing Primer
(F):5'- CAGTGAAACCACGAGGCCG -3'
(R):5'- TCCGACACCTGACAGACTGG -3'
|
Posted On |
2014-08-25 |