Incidental Mutation 'R7472:Myo7a'
| ID |
581289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
045546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 97714000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 1613
(F1613V)
|
| 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: F1613V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: F1613V
| 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: F1619V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: F1619V
| 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: F1624V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: F1624V
| 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: F1662V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: F1662V
| 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 |
possibly damaging
Transcript: ENSMUST00000156992
AA Change: F185V
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205746
AA Change: F1613V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (99/100) |
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
| 4921524J17Rik |
G |
A |
8: 86,159,438 (GRCm39) |
|
probably benign |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,744 (GRCm39) |
T131A |
probably benign |
Het |
| Acbd6 |
G |
T |
1: 155,463,213 (GRCm39) |
E138* |
probably null |
Het |
| Ago3 |
A |
G |
4: 126,239,310 (GRCm39) |
V847A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Als2cl |
C |
A |
9: 110,727,174 (GRCm39) |
H913Q |
probably benign |
Het |
| Atf6 |
A |
C |
1: 170,643,060 (GRCm39) |
S360R |
possibly damaging |
Het |
| Atm |
G |
C |
9: 53,359,425 (GRCm39) |
N2789K |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifa6 |
A |
T |
2: 153,831,249 (GRCm39) |
I272F |
possibly damaging |
Het |
| Cabin1 |
G |
T |
10: 75,494,481 (GRCm39) |
P1633T |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,209,131 (GRCm39) |
V119A |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,153,974 (GRCm39) |
E1082G |
probably benign |
Het |
| Cchcr1 |
C |
A |
17: 35,839,248 (GRCm39) |
A479D |
probably damaging |
Het |
| Chpt1 |
C |
T |
10: 88,312,230 (GRCm39) |
V349I |
probably benign |
Het |
| Cldn13 |
A |
T |
5: 134,943,975 (GRCm39) |
I70K |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,659,622 (GRCm39) |
D441V |
probably damaging |
Het |
| Cpne5 |
G |
T |
17: 29,423,714 (GRCm39) |
T138K |
probably benign |
Het |
| Creb3l3 |
A |
T |
10: 80,925,301 (GRCm39) |
|
probably null |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Cyp19a1 |
A |
G |
9: 54,074,277 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Cyth4 |
T |
C |
15: 78,490,094 (GRCm39) |
F72S |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,240,484 (GRCm39) |
Q9K |
unknown |
Het |
| Dnah1 |
T |
A |
14: 30,983,547 (GRCm39) |
I4099F |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,748 (GRCm39) |
I1130F |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,592 (GRCm39) |
K3117R |
probably benign |
Het |
| Dpf3 |
A |
T |
12: 83,319,159 (GRCm39) |
S275R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,257,578 (GRCm39) |
N2450S |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,632,109 (GRCm39) |
R4460W |
probably damaging |
Het |
| Ecm1 |
A |
C |
3: 95,642,632 (GRCm39) |
C414G |
possibly damaging |
Het |
| Eef2 |
G |
A |
10: 81,015,384 (GRCm39) |
D302N |
probably benign |
Het |
| Egf |
T |
C |
3: 129,479,912 (GRCm39) |
D1038G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,467 (GRCm39) |
S147P |
probably damaging |
Het |
| Esam |
C |
A |
9: 37,448,863 (GRCm39) |
P324T |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,301 (GRCm39) |
D99G |
probably damaging |
Het |
| Fhad1 |
G |
A |
4: 141,691,937 (GRCm39) |
R400C |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,357,017 (GRCm39) |
Y36C |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,515,893 (GRCm39) |
T638A |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,967 (GRCm39) |
T563A |
probably benign |
Het |
| Gm8180 |
T |
A |
14: 44,021,094 (GRCm39) |
N38I |
possibly damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,249 (GRCm39) |
E305G |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,791,338 (GRCm39) |
F191I |
probably benign |
Het |
| Irx3 |
T |
G |
8: 92,526,625 (GRCm39) |
T360P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,380,357 (GRCm39) |
I1375N |
probably benign |
Het |
| Klrh1 |
A |
T |
6: 129,752,345 (GRCm39) |
F57I |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,963,369 (GRCm39) |
I1314F |
possibly damaging |
Het |
| Lamb2 |
C |
A |
9: 108,363,347 (GRCm39) |
A842D |
probably benign |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,307 (GRCm39) |
Y51H |
possibly damaging |
Het |
| Leo1 |
A |
G |
9: 75,355,623 (GRCm39) |
D321G |
probably damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,511,226 (GRCm39) |
S285P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,860 (GRCm39) |
V4881A |
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,481 (GRCm39) |
F333I |
probably damaging |
Het |
| Micall1 |
T |
C |
15: 79,006,760 (GRCm39) |
S196P |
unknown |
Het |
| Mrps21 |
T |
C |
3: 95,770,110 (GRCm39) |
N73S |
probably benign |
Het |
| Msantd5f5 |
G |
A |
4: 73,542,736 (GRCm39) |
G79S |
probably damaging |
Het |
| Msln |
C |
T |
17: 25,969,708 (GRCm39) |
V341M |
possibly damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,962,001 (GRCm39) |
M840L |
probably damaging |
Het |
| Naprt |
C |
T |
15: 75,763,607 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,462,765 (GRCm39) |
V572A |
probably damaging |
Het |
| Nfkbie |
A |
T |
17: 45,870,233 (GRCm39) |
T193S |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 106,789,251 (GRCm39) |
N672K |
probably benign |
Het |
| Or11l3 |
A |
T |
11: 58,516,260 (GRCm39) |
I204N |
probably damaging |
Het |
| Or4b1d |
A |
G |
2: 89,968,668 (GRCm39) |
Y272H |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,969,656 (GRCm39) |
T13A |
|
Het |
| Or5b101 |
T |
C |
19: 13,005,439 (GRCm39) |
T85A |
probably benign |
Het |
| Or6k14 |
A |
T |
1: 173,927,299 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b49 |
A |
T |
9: 38,506,200 (GRCm39) |
I228L |
probably benign |
Het |
| Oscar |
T |
C |
7: 3,614,149 (GRCm39) |
T197A |
possibly damaging |
Het |
| P3h3 |
C |
A |
6: 124,827,594 (GRCm39) |
A481S |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,008,691 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
T |
4: 106,316,094 (GRCm39) |
H116Q |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,091,540 (GRCm39) |
F520L |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,580 (GRCm39) |
T1261A |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,019,446 (GRCm39) |
M76K |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,479,853 (GRCm39) |
E853G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,414,180 (GRCm39) |
D940G |
probably damaging |
Het |
| Smarcb1 |
T |
A |
10: 75,733,373 (GRCm39) |
N342Y |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,921 (GRCm39) |
I469N |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,421 (GRCm39) |
I4530V |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,074,065 (GRCm39) |
Y2335H |
probably damaging |
Het |
| Suz12 |
C |
T |
11: 79,915,801 (GRCm39) |
R425C |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,762,895 (GRCm39) |
A4V |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,649,129 (GRCm39) |
S157A |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,637,415 (GRCm39) |
E173G |
possibly damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,325,780 (GRCm39) |
L197* |
probably null |
Het |
| Tmem63c |
T |
C |
12: 87,115,932 (GRCm39) |
F191S |
possibly damaging |
Het |
| Tnn |
G |
A |
1: 159,937,917 (GRCm39) |
T1200I |
probably benign |
Het |
| Traf6 |
A |
G |
2: 101,527,537 (GRCm39) |
H429R |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,556,873 (GRCm39) |
S115P |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,851,639 (GRCm39) |
N808K |
probably benign |
Het |
| Trub2 |
A |
T |
2: 29,673,385 (GRCm39) |
V106E |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,217,156 (GRCm39) |
I227V |
probably benign |
Het |
| Vat1l |
G |
A |
8: 114,963,539 (GRCm39) |
|
probably null |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,824 (GRCm39) |
M190T |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,953 (GRCm39) |
T249A |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,742,002 (GRCm39) |
S88A |
probably benign |
Het |
| Zfp995 |
T |
C |
17: 22,099,181 (GRCm39) |
Y351C |
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 |
|
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 |
|
|
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'- CCAGGGCTATCTATCATCTACAC -3'
(R):5'- AGGTCACCAGCCCAAATGAG -3'
Sequencing Primer
(F):5'- GGGCTATCTATCATCTACACAGAAG -3'
(R):5'- GCCCAAATGAGGATGTTCTAATCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation