Incidental Mutation 'R1781:Myo7a'
| ID |
195282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
039812-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1781 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97722331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1198
(V1198D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146165
(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: V1198D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: V1198D
| 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: V1204D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: V1204D
| 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: V1209D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: V1209D
| 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: V1209D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: V1209D
| 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: V1198D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5247 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.1%
|
| Validation Efficiency |
97% (88/91) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,932,117 (GRCm39) |
K211E |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,219,194 (GRCm39) |
L376Q |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,486,531 (GRCm39) |
T1499A |
possibly damaging |
Het |
| Anks6 |
A |
C |
4: 47,043,639 (GRCm39) |
N363K |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,059,603 (GRCm39) |
I2695N |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,430,495 (GRCm39) |
R123W |
probably damaging |
Het |
| Atg14 |
T |
A |
14: 47,786,607 (GRCm39) |
|
probably null |
Het |
| Atg2a |
A |
T |
19: 6,306,243 (GRCm39) |
I1368F |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,732,567 (GRCm39) |
S373P |
probably damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,899,749 (GRCm39) |
E41G |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
| Cdh8 |
T |
C |
8: 99,917,094 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,290 (GRCm39) |
I99N |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,268 (GRCm39) |
P419L |
probably benign |
Het |
| Cds1 |
T |
A |
5: 101,960,416 (GRCm39) |
I289K |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,221,615 (GRCm39) |
T394I |
probably damaging |
Het |
| Cyp4f17 |
T |
G |
17: 32,742,993 (GRCm39) |
I222S |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,511,788 (GRCm39) |
S856P |
probably benign |
Het |
| Dcp1a |
C |
T |
14: 30,235,032 (GRCm39) |
T221I |
probably benign |
Het |
| Ddx10 |
A |
G |
9: 53,118,845 (GRCm39) |
S475P |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 148,928,896 (GRCm39) |
A759E |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,623,042 (GRCm39) |
G1258D |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,356,111 (GRCm39) |
D444E |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,074,421 (GRCm39) |
|
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,800 (GRCm39) |
K8R |
probably benign |
Het |
| Gk5 |
C |
T |
9: 96,015,508 (GRCm39) |
T108I |
possibly damaging |
Het |
| Gm8214 |
C |
A |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
A |
T |
17: 36,298,638 (GRCm39) |
I434F |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,196,588 (GRCm39) |
Y986H |
probably damaging |
Het |
| Gpr21 |
T |
C |
2: 37,407,550 (GRCm39) |
V32A |
probably benign |
Het |
| Grb14 |
A |
T |
2: 64,805,899 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,080,388 (GRCm39) |
F144L |
probably damaging |
Het |
| Hunk |
A |
G |
16: 90,229,448 (GRCm39) |
Y27C |
probably damaging |
Het |
| Ints7 |
C |
T |
1: 191,328,396 (GRCm39) |
T223M |
possibly damaging |
Het |
| Kcnmb2 |
T |
C |
3: 32,233,152 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
A |
T |
7: 3,918,066 (GRCm39) |
L26H |
probably benign |
Het |
| Mc4r |
A |
T |
18: 66,992,918 (GRCm39) |
V65E |
probably damaging |
Het |
| Mgam |
G |
A |
6: 40,646,797 (GRCm39) |
G708R |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,563,395 (GRCm39) |
D326G |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
| Nlrp4b |
G |
C |
7: 10,449,266 (GRCm39) |
V123L |
probably benign |
Het |
| Ntpcr |
T |
A |
8: 126,472,141 (GRCm39) |
L150Q |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,997,163 (GRCm39) |
E1513K |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,099 (GRCm39) |
K178E |
possibly damaging |
Het |
| Opalin |
T |
C |
19: 41,056,070 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,541 (GRCm39) |
N284S |
probably damaging |
Het |
| Or13a20 |
A |
T |
7: 140,232,419 (GRCm39) |
I176F |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,934 (GRCm39) |
V98I |
probably benign |
Het |
| Or2w2 |
C |
T |
13: 21,757,711 (GRCm39) |
G305D |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,786 (GRCm39) |
F105I |
probably damaging |
Het |
| Or51ah3 |
C |
T |
7: 103,209,773 (GRCm39) |
P30S |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,390,028 (GRCm39) |
M140V |
probably benign |
Het |
| Or52e15 |
A |
T |
7: 104,645,315 (GRCm39) |
F265L |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,090 (GRCm39) |
V287A |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,853,159 (GRCm39) |
M1T |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,125,199 (GRCm39) |
F159L |
probably benign |
Het |
| Paqr7 |
T |
C |
4: 134,234,592 (GRCm39) |
|
probably null |
Het |
| Parp1 |
T |
C |
1: 180,415,578 (GRCm39) |
S466P |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,322,977 (GRCm39) |
D952G |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,146 (GRCm39) |
S336P |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,519,398 (GRCm39) |
D10G |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,504,674 (GRCm39) |
T771A |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,705,372 (GRCm39) |
V188A |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,285,682 (GRCm39) |
L251P |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,270,179 (GRCm39) |
N1288I |
probably benign |
Het |
| Sarnp |
T |
C |
10: 128,669,191 (GRCm39) |
L16P |
probably damaging |
Het |
| Scgb3a2 |
T |
C |
18: 43,900,033 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,584,148 (GRCm39) |
I1489N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,302,729 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 12,085,521 (GRCm39) |
S377P |
probably benign |
Het |
| Slc22a30 |
T |
A |
19: 8,313,136 (GRCm39) |
T550S |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,535,651 (GRCm39) |
T296A |
probably benign |
Het |
| Slc35f1 |
T |
A |
10: 52,938,532 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,311,811 (GRCm39) |
E396G |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,985 (GRCm39) |
I509T |
probably benign |
Het |
| Srsf9 |
C |
A |
5: 115,465,481 (GRCm39) |
Y9* |
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,634,759 (GRCm39) |
T683A |
possibly damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,795 (GRCm39) |
I431V |
probably benign |
Het |
| Tespa1 |
G |
A |
10: 130,184,119 (GRCm39) |
G67S |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,342 (GRCm39) |
F1739I |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,187,524 (GRCm39) |
R196H |
probably damaging |
Het |
| Vezf1 |
G |
T |
11: 87,972,447 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,550 (GRCm39) |
M40K |
probably benign |
Het |
| Vmn1r9 |
G |
T |
6: 57,048,300 (GRCm39) |
C125F |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,594 (GRCm39) |
G323V |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,555 (GRCm39) |
H318L |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,520,167 (GRCm39) |
S430T |
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 |
|
|
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 |
|
|
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'- TGTGAGACCATCAAGGACCTGAGAG -3'
(R):5'- GACCCATGCCTTATTCCTGGTGAC -3'
Sequencing Primer
(F):5'- ACCTGAGAGAGGCTCTGG -3'
(R):5'- GCAAGACCCTCTGCTCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation