Incidental Mutation 'R7313:Myo7a'
ID |
567744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo7a
|
Ensembl Gene |
ENSMUSG00000030761 |
Gene Name |
myosin VIIA |
Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
MMRRC Submission |
045411-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7313 (G1)
|
Quality Score |
106.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97713402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1647
(R1647W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082046
(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: R1647W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082046 Gene: ENSMUSG00000030761 AA Change: R1647W
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: R1653W
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102739 Gene: ENSMUSG00000030761 AA Change: R1653W
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: R1658W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102744 Gene: ENSMUSG00000030761 AA Change: R1658W
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: R1696W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102745 Gene: ENSMUSG00000030761 AA Change: R1696W
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: R1647W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
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: 110 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,773,187 (GRCm39) |
N805S |
probably damaging |
Het |
Acat2 |
A |
G |
17: 13,178,893 (GRCm39) |
V60A |
probably benign |
Het |
Adam6b |
A |
G |
12: 113,454,754 (GRCm39) |
I524V |
probably benign |
Het |
Adamts16 |
C |
T |
13: 70,921,074 (GRCm39) |
W590* |
probably null |
Het |
Adamts9 |
C |
T |
6: 92,835,102 (GRCm39) |
G1257D |
probably damaging |
Het |
Adgrf5 |
C |
T |
17: 43,755,974 (GRCm39) |
T644I |
probably benign |
Het |
Adgrf5 |
T |
G |
17: 43,763,368 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,668,634 (GRCm39) |
T2641A |
possibly damaging |
Het |
Agap3 |
T |
C |
5: 24,657,382 (GRCm39) |
F60L |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,054,933 (GRCm39) |
T1626K |
probably damaging |
Het |
Ampd3 |
C |
A |
7: 110,405,261 (GRCm39) |
D603E |
probably damaging |
Het |
Angpt4 |
T |
A |
2: 151,767,326 (GRCm39) |
V119E |
probably benign |
Het |
Atp6v1a |
T |
C |
16: 43,934,980 (GRCm39) |
T70A |
probably benign |
Het |
B4galt3 |
T |
A |
1: 171,100,319 (GRCm39) |
I163N |
probably damaging |
Het |
Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
Btbd19 |
T |
A |
4: 116,978,616 (GRCm39) |
S156C |
probably damaging |
Het |
Camkk2 |
C |
T |
5: 122,875,574 (GRCm39) |
R492Q |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,033 (GRCm39) |
I434V |
probably damaging |
Het |
Cd4 |
G |
T |
6: 124,844,066 (GRCm39) |
T394K |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,237,517 (GRCm39) |
L1006P |
probably damaging |
Het |
Crx |
G |
A |
7: 15,601,857 (GRCm39) |
P274S |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,865,107 (GRCm39) |
I1457F |
probably damaging |
Het |
Cul4a |
C |
A |
8: 13,171,676 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
A |
2: 104,085,910 (GRCm39) |
T196S |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,580,567 (GRCm39) |
E1995G |
probably benign |
Het |
Dnm1 |
T |
A |
2: 32,226,021 (GRCm39) |
T353S |
probably damaging |
Het |
Ect2l |
T |
A |
10: 18,044,149 (GRCm39) |
T329S |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,742,716 (GRCm39) |
S83T |
probably benign |
Het |
Exosc7 |
A |
G |
9: 122,948,013 (GRCm39) |
T39A |
probably benign |
Het |
Fam135a |
C |
A |
1: 24,096,473 (GRCm39) |
V91F |
probably damaging |
Het |
Gab2 |
G |
T |
7: 96,731,005 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
T |
19: 46,268,793 (GRCm39) |
I1408F |
possibly damaging |
Het |
Glis3 |
C |
T |
19: 28,508,419 (GRCm39) |
E522K |
probably damaging |
Het |
Gm10375 |
A |
T |
14: 43,842,314 (GRCm39) |
C139S |
possibly damaging |
Het |
Gm26558 |
T |
C |
2: 70,492,211 (GRCm39) |
E81G |
unknown |
Het |
Gm35315 |
C |
T |
5: 110,227,091 (GRCm39) |
C116Y |
probably benign |
Het |
Gm3676 |
T |
A |
14: 41,366,064 (GRCm39) |
I84F |
probably damaging |
Het |
Gm7145 |
T |
A |
1: 117,913,932 (GRCm39) |
H271Q |
probably damaging |
Het |
Gpat2 |
T |
A |
2: 127,270,215 (GRCm39) |
I76N |
probably damaging |
Het |
Hipk1 |
A |
T |
3: 103,685,574 (GRCm39) |
S14T |
unknown |
Het |
Hlcs |
C |
A |
16: 94,068,362 (GRCm39) |
S286I |
probably damaging |
Het |
Ighg1 |
A |
T |
12: 113,293,078 (GRCm39) |
F204Y |
|
Het |
Igsf10 |
T |
C |
3: 59,236,837 (GRCm39) |
I1115V |
probably benign |
Het |
Klk7 |
A |
T |
7: 43,462,299 (GRCm39) |
H97L |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,754,504 (GRCm39) |
D1605E |
unknown |
Het |
Leng8 |
T |
A |
7: 4,142,525 (GRCm39) |
I49N |
possibly damaging |
Het |
Lingo4 |
A |
T |
3: 94,310,451 (GRCm39) |
D463V |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,389,337 (GRCm39) |
N3193I |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,866,111 (GRCm39) |
Y1210F |
probably damaging |
Het |
Mki67 |
G |
C |
7: 135,296,400 (GRCm39) |
A2878G |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mtcl3 |
T |
A |
10: 29,072,875 (GRCm39) |
Y722* |
probably null |
Het |
Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
Myh6 |
A |
T |
14: 55,197,727 (GRCm39) |
D470E |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,266,667 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nmral1 |
C |
T |
16: 4,531,660 (GRCm39) |
M198I |
probably benign |
Het |
Nrap |
C |
A |
19: 56,330,700 (GRCm39) |
L1120F |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,184,406 (GRCm39) |
I1267N |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,898,414 (GRCm39) |
P6616S |
unknown |
Het |
Ocstamp |
T |
G |
2: 165,239,229 (GRCm39) |
D319A |
probably damaging |
Het |
Ooep |
T |
C |
9: 78,285,433 (GRCm39) |
D61G |
probably damaging |
Het |
Or10p1 |
A |
G |
10: 129,443,949 (GRCm39) |
S134P |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,810 (GRCm39) |
I135F |
probably damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,538 (GRCm39) |
V199A |
probably benign |
Het |
Or6c5c |
T |
C |
10: 129,298,856 (GRCm39) |
S104P |
probably damaging |
Het |
Or7g35 |
A |
G |
9: 19,495,938 (GRCm39) |
Y35C |
probably damaging |
Het |
Otoa |
A |
G |
7: 120,701,765 (GRCm39) |
E148G |
probably benign |
Het |
Ovgp1 |
A |
T |
3: 105,894,387 (GRCm39) |
D720V |
unknown |
Het |
Padi2 |
T |
A |
4: 140,660,079 (GRCm39) |
F294I |
probably damaging |
Het |
Pcdha7 |
T |
A |
18: 37,107,471 (GRCm39) |
N165K |
probably damaging |
Het |
Pcdhb6 |
C |
A |
18: 37,468,261 (GRCm39) |
P394H |
probably damaging |
Het |
Pcdhga6 |
T |
C |
18: 37,841,072 (GRCm39) |
V264A |
possibly damaging |
Het |
Pik3ap1 |
G |
T |
19: 41,284,815 (GRCm39) |
D623E |
possibly damaging |
Het |
Prdm10 |
A |
T |
9: 31,268,456 (GRCm39) |
K802* |
probably null |
Het |
Ptgfrn |
G |
A |
3: 100,980,363 (GRCm39) |
L326F |
possibly damaging |
Het |
Rgsl1 |
T |
G |
1: 153,683,622 (GRCm39) |
|
probably null |
Het |
Rock1 |
T |
G |
18: 10,129,317 (GRCm39) |
T347P |
possibly damaging |
Het |
Rprd2 |
G |
A |
3: 95,684,022 (GRCm39) |
P338S |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 141,923,377 (GRCm39) |
N333Y |
probably damaging |
Het |
Setd4 |
T |
A |
16: 93,388,132 (GRCm39) |
H118L |
probably benign |
Het |
Sirt3 |
G |
A |
7: 140,458,039 (GRCm39) |
P37S |
|
Het |
Slc16a9 |
G |
T |
10: 70,119,000 (GRCm39) |
G440W |
probably damaging |
Het |
Slc22a23 |
T |
A |
13: 34,367,161 (GRCm39) |
I616F |
probably damaging |
Het |
Slc30a8 |
A |
C |
15: 52,180,707 (GRCm39) |
D102A |
probably damaging |
Het |
Slc6a4 |
T |
A |
11: 76,901,527 (GRCm39) |
D87E |
possibly damaging |
Het |
Slc9a4 |
A |
C |
1: 40,668,663 (GRCm39) |
T769P |
probably benign |
Het |
Sspo |
A |
T |
6: 48,431,762 (GRCm39) |
Y685F |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,450,390 (GRCm39) |
Q2560K |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,256,827 (GRCm39) |
L206Q |
probably damaging |
Het |
Stt3b |
A |
T |
9: 115,095,183 (GRCm39) |
Y283N |
probably damaging |
Het |
Sult4a1 |
T |
C |
15: 83,970,814 (GRCm39) |
E197G |
probably damaging |
Het |
Syne1 |
T |
G |
10: 4,997,635 (GRCm39) |
D444A |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,064,845 (GRCm39) |
V1425E |
possibly damaging |
Het |
Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
Tmcc3 |
A |
G |
10: 94,266,434 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
A |
4: 145,000,952 (GRCm39) |
N385Y |
probably benign |
Het |
Ttc4 |
T |
C |
4: 106,536,017 (GRCm39) |
D15G |
possibly damaging |
Het |
Tut1 |
A |
G |
19: 8,941,413 (GRCm39) |
N400S |
probably benign |
Het |
Usp39 |
T |
C |
6: 72,313,413 (GRCm39) |
K259R |
probably benign |
Het |
Vmn1r215 |
C |
T |
13: 23,260,484 (GRCm39) |
H175Y |
probably benign |
Het |
Vmn1r36 |
A |
T |
6: 66,693,107 (GRCm39) |
M256K |
probably benign |
Het |
Zfp128 |
T |
A |
7: 12,624,461 (GRCm39) |
H276Q |
possibly damaging |
Het |
Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
probably damaging |
Het |
Zfp354c |
A |
T |
11: 50,705,483 (GRCm39) |
Y531N |
probably damaging |
Het |
Zfp532 |
T |
A |
18: 65,756,076 (GRCm39) |
M3K |
probably damaging |
Het |
Zfp64 |
T |
G |
2: 168,741,810 (GRCm39) |
K373Q |
probably damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,990,856 (GRCm39) |
S377N |
probably benign |
Het |
Zfp983 |
T |
G |
17: 21,880,413 (GRCm39) |
S114A |
probably damaging |
Het |
Zranb1 |
G |
A |
7: 132,584,481 (GRCm39) |
R583K |
probably damaging |
Het |
|
Other mutations in Myo7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Myo7a
|
APN |
7 |
97,751,833 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00785:Myo7a
|
APN |
7 |
97,703,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00840:Myo7a
|
APN |
7 |
97,700,866 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01362:Myo7a
|
APN |
7 |
97,746,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01484:Myo7a
|
APN |
7 |
97,734,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01673:Myo7a
|
APN |
7 |
97,703,915 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Myo7a
|
APN |
7 |
97,732,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01943:Myo7a
|
APN |
7 |
97,714,854 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02188:Myo7a
|
APN |
7 |
97,740,234 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02304:Myo7a
|
APN |
7 |
97,726,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02305:Myo7a
|
APN |
7 |
97,700,836 (GRCm39) |
makesense |
probably null |
|
IGL02331:Myo7a
|
APN |
7 |
97,702,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02386:Myo7a
|
APN |
7 |
97,724,319 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02389:Myo7a
|
APN |
7 |
97,756,198 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Myo7a
|
APN |
7 |
97,740,227 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02839:Myo7a
|
APN |
7 |
97,740,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03193:Myo7a
|
APN |
7 |
97,740,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Myo7a
|
APN |
7 |
97,751,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03384:Myo7a
|
APN |
7 |
97,742,800 (GRCm39) |
missense |
probably damaging |
1.00 |
coward
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
H8786:Myo7a
|
UTSW |
7 |
97,744,985 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03046:Myo7a
|
UTSW |
7 |
97,728,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Myo7a
|
UTSW |
7 |
97,705,974 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4696001:Myo7a
|
UTSW |
7 |
97,712,806 (GRCm39) |
missense |
probably benign |
0.00 |
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R0267:Myo7a
|
UTSW |
7 |
97,703,831 (GRCm39) |
missense |
probably benign |
0.08 |
R0408:Myo7a
|
UTSW |
7 |
97,705,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Myo7a
|
UTSW |
7 |
97,721,144 (GRCm39) |
missense |
probably benign |
0.00 |
R0540:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Myo7a
|
UTSW |
7 |
97,761,357 (GRCm39) |
intron |
probably benign |
|
R0659:Myo7a
|
UTSW |
7 |
97,703,545 (GRCm39) |
splice site |
probably benign |
|
R0735:Myo7a
|
UTSW |
7 |
97,730,387 (GRCm39) |
splice site |
probably benign |
|
R0924:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0930:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R1018:Myo7a
|
UTSW |
7 |
97,756,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1196:Myo7a
|
UTSW |
7 |
97,746,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1331:Myo7a
|
UTSW |
7 |
97,756,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1487:Myo7a
|
UTSW |
7 |
97,703,017 (GRCm39) |
critical splice donor site |
probably null |
|
R1676:Myo7a
|
UTSW |
7 |
97,748,679 (GRCm39) |
critical splice donor site |
probably null |
|
R1695:Myo7a
|
UTSW |
7 |
97,741,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1770:Myo7a
|
UTSW |
7 |
97,761,813 (GRCm39) |
intron |
probably benign |
|
R1781:Myo7a
|
UTSW |
7 |
97,722,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Myo7a
|
UTSW |
7 |
97,756,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1827:Myo7a
|
UTSW |
7 |
97,725,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1864:Myo7a
|
UTSW |
7 |
97,701,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Myo7a
|
UTSW |
7 |
97,704,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Myo7a
|
UTSW |
7 |
97,703,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2229:Myo7a
|
UTSW |
7 |
97,704,117 (GRCm39) |
missense |
probably benign |
0.12 |
R2259:Myo7a
|
UTSW |
7 |
97,718,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R2443:Myo7a
|
UTSW |
7 |
97,744,976 (GRCm39) |
missense |
probably benign |
0.07 |
R2898:Myo7a
|
UTSW |
7 |
97,746,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R2898:Myo7a
|
UTSW |
7 |
97,703,631 (GRCm39) |
nonsense |
probably null |
|
R3158:Myo7a
|
UTSW |
7 |
97,701,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3408:Myo7a
|
UTSW |
7 |
97,730,294 (GRCm39) |
missense |
probably benign |
0.00 |
R4222:Myo7a
|
UTSW |
7 |
97,722,436 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4255:Myo7a
|
UTSW |
7 |
97,721,171 (GRCm39) |
missense |
probably damaging |
0.96 |
R4374:Myo7a
|
UTSW |
7 |
97,751,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R4429:Myo7a
|
UTSW |
7 |
97,702,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R4445:Myo7a
|
UTSW |
7 |
97,715,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Myo7a
|
UTSW |
7 |
97,722,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R5073:Myo7a
|
UTSW |
7 |
97,722,425 (GRCm39) |
nonsense |
probably null |
|
R5138:Myo7a
|
UTSW |
7 |
97,732,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Myo7a
|
UTSW |
7 |
97,714,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5580:Myo7a
|
UTSW |
7 |
97,722,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6079:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
R6138:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
R6451:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6452:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6453:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6454:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6455:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6465:Myo7a
|
UTSW |
7 |
97,711,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6653:Myo7a
|
UTSW |
7 |
97,703,710 (GRCm39) |
missense |
probably damaging |
0.96 |
R6709:Myo7a
|
UTSW |
7 |
97,703,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6917:Myo7a
|
UTSW |
7 |
97,744,970 (GRCm39) |
missense |
possibly damaging |
0.58 |
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'- CCTGATGAGTGGCACAGATACC -3'
(R):5'- AAGAGAGCTTAGGGTCCACAC -3'
Sequencing Primer
(F):5'- TACACAGAGGGCTCATCCTG -3'
(R):5'- GGTCCACACCCGTGAAG -3'
|
Posted On |
2019-06-26 |