Incidental Mutation 'R5580:Myo7a'
| ID |
438394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
043134-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5580 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97722367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 1186
(L1186H)
|
| 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: L1186H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: L1186H
| 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: L1192H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: L1192H
| 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: L1197H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: L1197H
| 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: L1197H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: L1197H
| 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: L1186H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
A |
G |
7: 43,900,664 (GRCm39) |
T73A |
possibly damaging |
Het |
| A1bg |
A |
T |
15: 60,790,881 (GRCm39) |
V365E |
probably benign |
Het |
| Abcg5 |
A |
C |
17: 84,967,582 (GRCm39) |
V406G |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,152,086 (GRCm39) |
Y192C |
probably benign |
Het |
| Add3 |
C |
T |
19: 53,233,642 (GRCm39) |
S649L |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,286,228 (GRCm39) |
C1129* |
probably null |
Het |
| Arsb |
T |
A |
13: 93,944,053 (GRCm39) |
V248D |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,472,922 (GRCm39) |
N39I |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,540,566 (GRCm39) |
I1383N |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,760,232 (GRCm39) |
V625D |
possibly damaging |
Het |
| Cd9 |
A |
G |
6: 125,441,420 (GRCm39) |
L67P |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,852,126 (GRCm39) |
Y80* |
probably null |
Het |
| Csf2ra |
A |
G |
19: 61,214,655 (GRCm39) |
L223P |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,094 (GRCm39) |
K421E |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,098 (GRCm39) |
R223G |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,582,225 (GRCm39) |
V167A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,788,919 (GRCm39) |
T81A |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,897,755 (GRCm39) |
M1V |
probably null |
Het |
| Evpl |
C |
A |
11: 116,125,058 (GRCm39) |
A135S |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,578,132 (GRCm39) |
I209V |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,350,168 (GRCm39) |
C253* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,424,539 (GRCm39) |
Y305* |
probably null |
Het |
| Fzd2 |
A |
C |
11: 102,496,665 (GRCm39) |
I370L |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 30,737,242 (GRCm39) |
K212R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,790,179 (GRCm39) |
L207P |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,538,818 (GRCm39) |
F155I |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,659,739 (GRCm39) |
G500S |
probably benign |
Het |
| Gucd1 |
C |
A |
10: 75,346,968 (GRCm39) |
G55V |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,517,503 (GRCm39) |
I287K |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,453,290 (GRCm39) |
P5342S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,788,092 (GRCm39) |
S577P |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,040,882 (GRCm39) |
I113F |
possibly damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,469,511 (GRCm39) |
P396S |
probably damaging |
Het |
| Igkv4-86 |
T |
A |
6: 68,887,990 (GRCm39) |
|
probably benign |
Het |
| Ipo11 |
A |
G |
13: 107,037,255 (GRCm39) |
V196A |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,128,287 (GRCm39) |
E138G |
probably damaging |
Het |
| Kidins220 |
T |
G |
12: 25,097,896 (GRCm39) |
C1179G |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,128 (GRCm39) |
|
probably null |
Het |
| Klk1 |
T |
A |
7: 43,878,238 (GRCm39) |
Y63N |
probably benign |
Het |
| L3mbtl3 |
T |
G |
10: 26,179,604 (GRCm39) |
D517A |
unknown |
Het |
| Lars1 |
G |
T |
18: 42,347,916 (GRCm39) |
P969H |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,424,389 (GRCm39) |
V766I |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,755,553 (GRCm39) |
I443V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,387,985 (GRCm39) |
M439V |
probably null |
Het |
| Magi2 |
T |
A |
5: 20,420,422 (GRCm39) |
M286K |
probably benign |
Het |
| Med11 |
T |
C |
11: 70,342,891 (GRCm39) |
|
probably null |
Het |
| Med13l |
A |
G |
5: 118,889,695 (GRCm39) |
K1819E |
possibly damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,590 (GRCm39) |
Q656L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,084 (GRCm39) |
T2677A |
possibly damaging |
Het |
| Naca |
C |
A |
10: 127,876,462 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,281,761 (GRCm39) |
I828T |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,280,604 (GRCm39) |
C75* |
probably null |
Het |
| Nepn |
A |
C |
10: 52,280,398 (GRCm39) |
S497R |
probably damaging |
Het |
| Nf2 |
A |
G |
11: 4,753,689 (GRCm39) |
F222L |
probably damaging |
Het |
| Nlrp9b |
A |
C |
7: 19,757,089 (GRCm39) |
T109P |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,302 (GRCm39) |
F22I |
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,306,337 (GRCm39) |
Y178C |
probably damaging |
Het |
| Or1e22 |
G |
T |
11: 73,377,036 (GRCm39) |
P205T |
probably benign |
Het |
| Or4b12 |
C |
A |
2: 90,096,694 (GRCm39) |
V27L |
probably benign |
Het |
| Or5b119 |
T |
A |
19: 13,456,791 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or5b21 |
G |
A |
19: 12,839,168 (GRCm39) |
V10M |
possibly damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,668 (GRCm39) |
M100K |
possibly damaging |
Het |
| Osr1 |
G |
A |
12: 9,629,325 (GRCm39) |
R66Q |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,098,951 (GRCm39) |
S1978P |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,603,531 (GRCm39) |
Q239L |
probably damaging |
Het |
| Pin1rt1 |
A |
G |
2: 104,544,670 (GRCm39) |
I154T |
probably damaging |
Het |
| Pkdcc |
A |
G |
17: 83,527,511 (GRCm39) |
T230A |
probably damaging |
Het |
| Por |
A |
T |
5: 135,762,675 (GRCm39) |
I430F |
probably damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,432 (GRCm39) |
N262S |
unknown |
Het |
| Prkcsh |
T |
A |
9: 21,922,551 (GRCm39) |
|
probably null |
Het |
| Pros1 |
A |
G |
16: 62,746,689 (GRCm39) |
|
probably null |
Het |
| Pus10 |
T |
A |
11: 23,622,556 (GRCm39) |
L59I |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,431,542 (GRCm39) |
V67A |
possibly damaging |
Het |
| Rab3gap1 |
C |
A |
1: 127,858,727 (GRCm39) |
A612E |
probably benign |
Het |
| Rpap2 |
A |
G |
5: 107,768,011 (GRCm39) |
E206G |
probably benign |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,672,293 (GRCm39) |
G1393R |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,968,528 (GRCm39) |
M267T |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,575,031 (GRCm39) |
I380F |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,279 (GRCm39) |
S180P |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,966,922 (GRCm39) |
K536R |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,748,125 (GRCm39) |
|
probably benign |
Het |
| Spata31d1e |
A |
T |
13: 59,890,070 (GRCm39) |
D583E |
probably benign |
Het |
| Strc |
T |
C |
2: 121,205,493 (GRCm39) |
K879R |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,260,206 (GRCm39) |
E731G |
probably benign |
Het |
| Syngap1 |
G |
A |
17: 27,181,305 (GRCm39) |
A9T |
probably damaging |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,149 (GRCm39) |
I937V |
possibly damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,350 (GRCm39) |
Y58H |
probably damaging |
Het |
| Tsen2 |
A |
T |
6: 115,554,941 (GRCm39) |
D458V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,748,146 (GRCm39) |
D4301V |
probably benign |
Het |
| Txk |
C |
A |
5: 72,864,932 (GRCm39) |
L314F |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,460,187 (GRCm39) |
M641V |
probably damaging |
Het |
| Usp4 |
C |
T |
9: 108,243,058 (GRCm39) |
T242I |
probably benign |
Het |
| Usp53 |
A |
G |
3: 122,727,883 (GRCm39) |
S900P |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,101 (GRCm39) |
Y181H |
probably damaging |
Het |
| Vmn1r83 |
T |
A |
7: 12,055,800 (GRCm39) |
I86L |
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,596,802 (GRCm39) |
I84M |
probably damaging |
Het |
| Vstm2b |
A |
G |
7: 40,552,050 (GRCm39) |
H126R |
probably damaging |
Het |
| Zfp524 |
A |
T |
7: 5,021,416 (GRCm39) |
I315F |
probably benign |
Het |
| Zfp975 |
A |
T |
7: 42,314,513 (GRCm39) |
L20* |
probably null |
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 |
|
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'- GGATTCCAGAACTCGAGAAGTCC -3'
(R):5'- TAAAGCAAGACCCTCTGCTCAG -3'
Sequencing Primer
(F):5'- TCGAGAAGTCCCAGAGTCC -3'
(R):5'- GTCTCTGTCTCCTGGGAAGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation