Incidental Mutation 'R1827:Myo7a'
ID |
206912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
039854-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1827 (G1)
|
Quality Score |
188 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97725938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1038
(M1038K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000205746]
|
AlphaFold |
P97479 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084979
AA Change: M1038K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761 AA Change: M1038K
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: M1044K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761 AA Change: M1044K
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: M1049K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: M1049K
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: M1049K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: M1049K
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: ENSMUST00000152975
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205746
AA Change: M1038K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
G |
C |
7: 131,043,004 (GRCm39) |
R355T |
probably damaging |
Het |
Ackr2 |
C |
T |
9: 121,738,581 (GRCm39) |
R319C |
probably benign |
Het |
Acot4 |
G |
A |
12: 84,088,712 (GRCm39) |
A187T |
probably damaging |
Het |
Adgrb2 |
A |
C |
4: 129,906,350 (GRCm39) |
Q926P |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,571,658 (GRCm39) |
T420A |
probably damaging |
Het |
Adra1b |
A |
T |
11: 43,726,476 (GRCm39) |
V147E |
probably damaging |
Het |
Bco1 |
A |
G |
8: 117,832,498 (GRCm39) |
Y98C |
probably damaging |
Het |
Car5a |
C |
T |
8: 122,650,547 (GRCm39) |
V166M |
probably benign |
Het |
Cdh5 |
T |
C |
8: 104,839,541 (GRCm39) |
L4P |
possibly damaging |
Het |
Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
Cmya5 |
G |
A |
13: 93,210,956 (GRCm39) |
T3279I |
possibly damaging |
Het |
Col4a4 |
C |
T |
1: 82,517,709 (GRCm39) |
G105D |
unknown |
Het |
Cyp2d34 |
A |
T |
15: 82,500,295 (GRCm39) |
H481Q |
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,327,422 (GRCm39) |
C307* |
probably null |
Het |
Dnah9 |
A |
G |
11: 65,740,887 (GRCm39) |
Y4100H |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,508,009 (GRCm39) |
N1647S |
probably benign |
Het |
Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,352,238 (GRCm39) |
E763G |
probably benign |
Het |
Fbh1 |
G |
T |
2: 11,768,699 (GRCm39) |
D332E |
possibly damaging |
Het |
Fndc8 |
G |
A |
11: 82,790,355 (GRCm39) |
V275M |
probably damaging |
Het |
Focad |
T |
G |
4: 88,147,620 (GRCm39) |
Y420D |
probably benign |
Het |
Gml |
A |
T |
15: 74,688,280 (GRCm39) |
H62Q |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
Gpr161 |
A |
G |
1: 165,134,136 (GRCm39) |
T133A |
possibly damaging |
Het |
Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
Gsg1l |
A |
T |
7: 125,509,369 (GRCm39) |
I256K |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
Hnf1a |
G |
A |
5: 115,098,254 (GRCm39) |
A116V |
probably damaging |
Het |
Hrh4 |
A |
T |
18: 13,155,261 (GRCm39) |
T267S |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,099,278 (GRCm39) |
N123I |
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,128,545 (GRCm39) |
T91S |
probably benign |
Het |
Impg2 |
A |
T |
16: 56,087,583 (GRCm39) |
N1134I |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,850,093 (GRCm39) |
V860A |
possibly damaging |
Het |
Irf5 |
A |
T |
6: 29,536,672 (GRCm39) |
H461L |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,706,761 (GRCm39) |
S86P |
probably damaging |
Het |
Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,428,301 (GRCm39) |
M176L |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,039,150 (GRCm39) |
I281N |
probably damaging |
Het |
Mms19 |
G |
A |
19: 41,942,116 (GRCm39) |
A584V |
probably benign |
Het |
Mon2 |
A |
T |
10: 122,882,216 (GRCm39) |
D184E |
probably damaging |
Het |
Mrpl1 |
T |
C |
5: 96,374,202 (GRCm39) |
V159A |
possibly damaging |
Het |
Mtrex |
C |
A |
13: 113,049,633 (GRCm39) |
|
probably null |
Het |
Myo18a |
C |
T |
11: 77,709,597 (GRCm39) |
T190I |
probably benign |
Het |
Myrfl |
T |
A |
10: 116,668,852 (GRCm39) |
I304F |
probably damaging |
Het |
Neo1 |
G |
A |
9: 58,824,314 (GRCm39) |
R705* |
probably null |
Het |
Nfat5 |
T |
C |
8: 108,093,966 (GRCm39) |
S736P |
probably benign |
Het |
Nlrp4c |
C |
T |
7: 6,068,765 (GRCm39) |
P222L |
probably damaging |
Het |
Nmt1 |
T |
A |
11: 102,955,664 (GRCm39) |
W481R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 77,897,049 (GRCm39) |
I663L |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,061,864 (GRCm39) |
E681V |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
Or56b1b |
A |
T |
7: 108,164,282 (GRCm39) |
V240D |
probably benign |
Het |
Pald1 |
ATGCTGCTGCTGCTGC |
ATGCTGCTGCTGC |
10: 61,191,701 (GRCm39) |
|
probably benign |
Het |
Ppm1e |
T |
C |
11: 87,122,521 (GRCm39) |
T479A |
probably damaging |
Het |
Ppp1r7 |
A |
G |
1: 93,288,518 (GRCm39) |
E298G |
probably benign |
Het |
Pramel29 |
G |
A |
4: 143,936,180 (GRCm39) |
P27S |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,717,616 (GRCm39) |
|
probably null |
Het |
Prss36 |
A |
G |
7: 127,532,664 (GRCm39) |
V718A |
probably damaging |
Het |
Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
Rrp12 |
G |
C |
19: 41,868,920 (GRCm39) |
D519E |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,173,279 (GRCm39) |
L415P |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,765,706 (GRCm39) |
D335E |
probably benign |
Het |
S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
Scin |
T |
C |
12: 40,118,922 (GRCm39) |
R625G |
possibly damaging |
Het |
Simc1 |
T |
A |
13: 54,672,452 (GRCm39) |
C267S |
probably benign |
Het |
Slc28a1 |
T |
C |
7: 80,787,950 (GRCm39) |
V279A |
possibly damaging |
Het |
Slc30a8 |
T |
A |
15: 52,194,953 (GRCm39) |
|
probably null |
Het |
Slco6d1 |
A |
G |
1: 98,348,941 (GRCm39) |
D4G |
probably damaging |
Het |
Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
A |
7: 63,884,755 (GRCm39) |
R812H |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,874,661 (GRCm39) |
I75F |
probably damaging |
Het |
Tyms |
C |
T |
5: 30,267,014 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
G |
4: 139,153,008 (GRCm39) |
|
probably null |
Het |
Unc45a |
A |
G |
7: 79,981,488 (GRCm39) |
V438A |
possibly damaging |
Het |
Usf2 |
T |
C |
7: 30,654,765 (GRCm39) |
D110G |
probably damaging |
Het |
Vit |
T |
C |
17: 78,853,875 (GRCm39) |
|
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,262,497 (GRCm39) |
M211K |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,199,938 (GRCm39) |
H505R |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,450,821 (GRCm39) |
A236T |
probably damaging |
Het |
Xpo1 |
T |
C |
11: 23,235,155 (GRCm39) |
M608T |
probably benign |
Het |
Zfp112 |
T |
C |
7: 23,824,385 (GRCm39) |
F116L |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,476,768 (GRCm39) |
T487A |
possibly damaging |
Het |
Zfpl1 |
A |
C |
19: 6,131,901 (GRCm39) |
L241R |
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 |
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'- TTCTGCTGGTTACCTGAGCC -3'
(R):5'- CAAGTCAAGGTCGGGCTTTG -3'
Sequencing Primer
(F):5'- CTAGCCCAAGACAGTTATCAGTTGG -3'
(R):5'- TGGTTCAGCCCCCAACCTAG -3'
|
Posted On |
2014-06-23 |