Incidental Mutation 'R0632:Myo7a'
| ID |
59709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
038821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0632 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 97761357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000138627]
|
| AlphaFold |
P97479 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084979
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
| 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 benign
Transcript: ENSMUST00000107127
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
59 |
742 |
N/A |
SMART |
|
IQ
|
743 |
765 |
2.99e0 |
SMART |
|
IQ
|
766 |
788 |
8.77e-7 |
SMART |
|
IQ
|
812 |
834 |
8e0 |
SMART |
|
IQ
|
835 |
857 |
8.7e0 |
SMART |
|
low complexity region
|
865 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
|
MyTH4
|
1017 |
1253 |
1.4e-71 |
SMART |
|
B41
|
1254 |
1469 |
8.82e-42 |
SMART |
|
SH3
|
1568 |
1633 |
4.93e-7 |
SMART |
|
MyTH4
|
1709 |
1858 |
3.95e-57 |
SMART |
|
B41
|
1860 |
2077 |
8.27e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107128
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
| 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: ENSMUST00000131632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138627
|
| SMART Domains |
Protein: ENSMUSP00000114944
Gene: ENSMUSG00000030761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_head
|
67 |
139 |
7.1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153657
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
95% (81/85) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
T |
A |
9: 119,176,884 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,562,952 (GRCm39) |
T462S |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 52,983,931 (GRCm39) |
N825I |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,822,529 (GRCm39) |
N59I |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,167 (GRCm39) |
S633G |
possibly damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,891,200 (GRCm39) |
Y522* |
probably null |
Het |
| Art5 |
G |
A |
7: 101,747,164 (GRCm39) |
T205I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,599,855 (GRCm39) |
L176H |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,117,026 (GRCm39) |
D529G |
probably benign |
Het |
| C2cd4a |
T |
C |
9: 67,738,845 (GRCm39) |
E66G |
probably benign |
Het |
| C8a |
T |
C |
4: 104,713,689 (GRCm39) |
D147G |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,542,019 (GRCm39) |
V532A |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,432,749 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,720,958 (GRCm39) |
E2543K |
unknown |
Het |
| Cldn13 |
C |
T |
5: 134,943,601 (GRCm39) |
E195K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,025,246 (GRCm39) |
S402G |
probably null |
Het |
| Cpa3 |
T |
C |
3: 20,279,358 (GRCm39) |
T194A |
probably benign |
Het |
| Crygf |
C |
A |
1: 65,967,156 (GRCm39) |
Y93* |
probably null |
Het |
| Ctsh |
A |
G |
9: 89,943,635 (GRCm39) |
R87G |
possibly damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,857,671 (GRCm39) |
D428G |
possibly damaging |
Het |
| Dnah17 |
C |
G |
11: 117,958,508 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,567,128 (GRCm39) |
V2366A |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,643,432 (GRCm39) |
I1284F |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,405,403 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,310,494 (GRCm39) |
R4098L |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,720,487 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
A |
T |
4: 28,821,104 (GRCm39) |
I90F |
probably damaging |
Het |
| Fam171a2 |
T |
A |
11: 102,328,707 (GRCm39) |
D684V |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,947 (GRCm39) |
V665A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,170,819 (GRCm39) |
C2191R |
probably damaging |
Het |
| Fkbp3 |
G |
A |
12: 65,120,692 (GRCm39) |
A2V |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,967,514 (GRCm39) |
N430D |
probably benign |
Het |
| Gm13547 |
T |
A |
2: 29,651,596 (GRCm39) |
D7E |
possibly damaging |
Het |
| H4c9 |
G |
T |
13: 22,225,197 (GRCm39) |
Y99* |
probably null |
Het |
| Hdac5 |
A |
T |
11: 102,096,638 (GRCm39) |
D260E |
probably damaging |
Het |
| Hsf2bp |
T |
C |
17: 32,232,320 (GRCm39) |
E142G |
probably damaging |
Het |
| Igf1r |
C |
T |
7: 67,814,903 (GRCm39) |
T268I |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,155,356 (GRCm39) |
D83G |
probably benign |
Het |
| Kcne3 |
C |
T |
7: 99,833,646 (GRCm39) |
R88C |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,796 (GRCm39) |
G100V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,059,363 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,426 (GRCm39) |
P335S |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,680,231 (GRCm39) |
N2047K |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,712,375 (GRCm39) |
M167V |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,182,929 (GRCm39) |
L36P |
probably damaging |
Het |
| Mmp13 |
G |
A |
9: 7,274,032 (GRCm39) |
G169R |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,282,077 (GRCm39) |
I460F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,532 (GRCm39) |
I232T |
probably damaging |
Het |
| Msra |
T |
A |
14: 64,447,981 (GRCm39) |
M145L |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,842,206 (GRCm39) |
N422K |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,121,115 (GRCm39) |
F353I |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,895,473 (GRCm39) |
K384E |
probably damaging |
Het |
| Or51h5 |
C |
T |
7: 102,577,811 (GRCm39) |
|
probably null |
Het |
| Or52e15 |
A |
G |
7: 104,645,910 (GRCm39) |
I67T |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,544 (GRCm39) |
I39V |
probably benign |
Het |
| Phox2b |
T |
G |
5: 67,253,557 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
T |
15: 76,057,611 (GRCm39) |
S4131T |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,451,654 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
G |
A |
4: 144,090,352 (GRCm39) |
C464Y |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,170 (GRCm39) |
E810G |
probably benign |
Het |
| Ptprc |
C |
T |
1: 138,001,348 (GRCm39) |
V965I |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,455,415 (GRCm39) |
M180K |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,009,896 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,120,393 (GRCm39) |
S787P |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,967,344 (GRCm39) |
N294K |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,120,393 (GRCm39) |
H156L |
possibly damaging |
Het |
| Serpinb6c |
C |
T |
13: 34,064,014 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,906 (GRCm39) |
I416T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,277,500 (GRCm39) |
F279Y |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,719,429 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tab2 |
A |
G |
10: 7,795,565 (GRCm39) |
S232P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,227,325 (GRCm39) |
K1356* |
probably null |
Het |
| Tmem87a |
A |
G |
2: 120,190,023 (GRCm39) |
S544P |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,401 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,779 (GRCm39) |
V96E |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,708,308 (GRCm39) |
Y33C |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,113,561 (GRCm39) |
V171G |
probably damaging |
Het |
| Zfp957 |
T |
A |
14: 79,450,360 (GRCm39) |
I480F |
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 |
|
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 |
|
|
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'- TGTTCCAGACAGAGGGATAGCACAG -3'
(R):5'- TAGGGTTCCAGACCAGAAGGGTTG -3'
Sequencing Primer
(F):5'- GGGCTGATAAAAGCTGGTTAC -3'
(R):5'- CCAGAAGGGTTGTGTGAGATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation