Incidental Mutation 'R4579:Myo7a'
| ID |
343507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
041801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4579 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 97722400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 1175
(S1175I)
|
| 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: S1175I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: S1175I
| 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: S1181I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: S1181I
| 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: S1186I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: S1186I
| 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: S1186I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: S1186I
| 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: S1175I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,031,848 (GRCm39) |
I90T |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,761,987 (GRCm39) |
N444D |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,927,743 (GRCm39) |
Y499H |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,469,661 (GRCm39) |
R83S |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,752,612 (GRCm39) |
V368D |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,017 (GRCm39) |
V368A |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,090 (GRCm39) |
|
probably null |
Het |
| Bdh1 |
A |
T |
16: 31,254,954 (GRCm39) |
|
probably benign |
Het |
| Bmp6 |
A |
T |
13: 38,653,701 (GRCm39) |
Y256F |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,453,657 (GRCm39) |
S496* |
probably null |
Het |
| Capn15 |
C |
T |
17: 26,178,811 (GRCm39) |
R1128H |
probably damaging |
Het |
| Ccnf |
T |
A |
17: 24,450,303 (GRCm39) |
R461* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,547,191 (GRCm39) |
V725I |
unknown |
Het |
| Cp |
T |
C |
3: 20,011,599 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,430,957 (GRCm39) |
V577A |
probably benign |
Het |
| Cux2 |
A |
T |
5: 121,998,716 (GRCm39) |
I1408K |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,630 (GRCm39) |
T130S |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,311,074 (GRCm39) |
T278A |
probably benign |
Het |
| Dchs1 |
T |
G |
7: 105,403,972 (GRCm39) |
T2857P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,180 (GRCm39) |
M1884T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,608,554 (GRCm39) |
S1802G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,537 (GRCm39) |
S691G |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,267 (GRCm39) |
Q332L |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,133,804 (GRCm39) |
Y827C |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,594,051 (GRCm39) |
N706K |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,423 (GRCm39) |
L317S |
probably damaging |
Het |
| Fam120c |
G |
T |
X: 150,219,179 (GRCm39) |
G696W |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,536,125 (GRCm39) |
|
probably null |
Het |
| Fancl |
G |
T |
11: 26,418,423 (GRCm39) |
|
probably null |
Het |
| Fbxo30 |
T |
A |
10: 11,165,293 (GRCm39) |
V5E |
probably benign |
Het |
| Foxn4 |
A |
T |
5: 114,394,886 (GRCm39) |
I347N |
possibly damaging |
Het |
| Galr2 |
A |
T |
11: 116,172,325 (GRCm39) |
D5V |
probably benign |
Het |
| Gm4845 |
T |
G |
1: 141,184,865 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,693,532 (GRCm39) |
Q73L |
probably damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,241 (GRCm39) |
|
probably null |
Het |
| H2-T5 |
C |
T |
17: 36,472,649 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,791,356 (GRCm39) |
M2594T |
probably damaging |
Het |
| Hint3 |
T |
C |
10: 30,486,428 (GRCm39) |
H117R |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,541 (GRCm39) |
F253L |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,466 (GRCm39) |
D313G |
possibly damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,893 (GRCm39) |
D614E |
probably damaging |
Het |
| Ksr2 |
A |
T |
5: 117,894,335 (GRCm39) |
I825F |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 69,071,635 (GRCm39) |
S521C |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,123,015 (GRCm39) |
N725S |
probably damaging |
Het |
| Med1 |
T |
G |
11: 98,049,248 (GRCm39) |
E516A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,935,660 (GRCm39) |
V1622E |
probably benign |
Het |
| Miip |
G |
A |
4: 147,945,518 (GRCm39) |
P373S |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,340,474 (GRCm39) |
D781E |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,359,583 (GRCm39) |
V1407E |
probably damaging |
Het |
| Opalin |
A |
G |
19: 41,056,196 (GRCm39) |
L33P |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,458 (GRCm39) |
I162F |
probably benign |
Het |
| Or2n1b |
G |
C |
17: 38,460,296 (GRCm39) |
K272N |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,488 (GRCm39) |
I307V |
probably benign |
Het |
| Or8b12i |
G |
T |
9: 20,082,410 (GRCm39) |
S152R |
probably damaging |
Het |
| Or8k28 |
T |
C |
2: 86,285,859 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or8s10 |
A |
T |
15: 98,335,560 (GRCm39) |
D70V |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,168 (GRCm39) |
N23K |
probably damaging |
Het |
| Pdap1 |
A |
G |
5: 145,073,691 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,670,197 (GRCm39) |
E395G |
probably damaging |
Het |
| Pex1 |
C |
A |
5: 3,668,880 (GRCm39) |
R624S |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,608,261 (GRCm39) |
V329I |
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,515,970 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,082 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
G |
T |
12: 73,335,298 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
A |
4: 111,750,384 (GRCm39) |
Y158F |
probably damaging |
Het |
| Spata3 |
T |
A |
1: 85,954,175 (GRCm39) |
V114E |
probably damaging |
Het |
| Tbcb |
T |
A |
7: 29,931,019 (GRCm39) |
I34F |
possibly damaging |
Het |
| Tek |
T |
A |
4: 94,751,903 (GRCm39) |
Y1014* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,014,681 (GRCm39) |
C644F |
probably damaging |
Het |
| Trim56 |
A |
C |
5: 137,142,918 (GRCm39) |
D199E |
possibly damaging |
Het |
| Tssk3 |
A |
T |
4: 129,383,110 (GRCm39) |
D187E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,147 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,025 (GRCm39) |
R126Q |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,838 (GRCm39) |
M212T |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,772 (GRCm39) |
F35I |
possibly damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,915 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,143 (GRCm39) |
Y186N |
probably damaging |
Het |
| Zfp524 |
G |
A |
7: 5,021,347 (GRCm39) |
V292I |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,018 (GRCm39) |
I56S |
probably benign |
Het |
|
| Other mutations in Myo7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Myo7a
|
APN |
7 |
97,751,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Myo7a
|
APN |
7 |
97,703,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00840:Myo7a
|
APN |
7 |
97,700,866 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01362:Myo7a
|
APN |
7 |
97,746,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Myo7a
|
APN |
7 |
97,734,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01673:Myo7a
|
APN |
7 |
97,703,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Myo7a
|
APN |
7 |
97,732,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Myo7a
|
APN |
7 |
97,714,854 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02188:Myo7a
|
APN |
7 |
97,740,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02304:Myo7a
|
APN |
7 |
97,726,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02305:Myo7a
|
APN |
7 |
97,700,836 (GRCm39) |
makesense |
probably null |
|
|
IGL02331:Myo7a
|
APN |
7 |
97,702,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02386:Myo7a
|
APN |
7 |
97,724,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02389:Myo7a
|
APN |
7 |
97,756,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02832:Myo7a
|
APN |
7 |
97,740,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02839:Myo7a
|
APN |
7 |
97,740,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Myo7a
|
APN |
7 |
97,740,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Myo7a
|
APN |
7 |
97,751,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Myo7a
|
APN |
7 |
97,742,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
coward
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Myo7a
|
UTSW |
7 |
97,744,985 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03046:Myo7a
|
UTSW |
7 |
97,728,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Myo7a
|
UTSW |
7 |
97,705,974 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4696001:Myo7a
|
UTSW |
7 |
97,712,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0267:Myo7a
|
UTSW |
7 |
97,703,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0408:Myo7a
|
UTSW |
7 |
97,705,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Myo7a
|
UTSW |
7 |
97,721,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Myo7a
|
UTSW |
7 |
97,761,357 (GRCm39) |
intron |
probably benign |
|
|
R0659:Myo7a
|
UTSW |
7 |
97,703,545 (GRCm39) |
splice site |
probably benign |
|
|
R0735:Myo7a
|
UTSW |
7 |
97,730,387 (GRCm39) |
splice site |
probably benign |
|
|
R0924:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0930:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1018:Myo7a
|
UTSW |
7 |
97,756,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Myo7a
|
UTSW |
7 |
97,746,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1331:Myo7a
|
UTSW |
7 |
97,756,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1487:Myo7a
|
UTSW |
7 |
97,703,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1676:Myo7a
|
UTSW |
7 |
97,748,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1695:Myo7a
|
UTSW |
7 |
97,741,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1770:Myo7a
|
UTSW |
7 |
97,761,813 (GRCm39) |
intron |
probably benign |
|
|
R1781:Myo7a
|
UTSW |
7 |
97,722,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Myo7a
|
UTSW |
7 |
97,756,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- ATTCCAGAACTCGAGAAGTCCC -3'
(R):5'- TCTAAAGCAAGACCCTCTGCTC -3'
Sequencing Primer
(F):5'- CAGAGTCCCACATGAGGACTATTTG -3'
(R):5'- AAGACCCTCTGCTCAGCCTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation