Incidental Mutation 'R9513:Myo7a'
| ID |
718297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 97746818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084979]
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000138627]
[ENSMUST00000205746]
|
| AlphaFold |
P97479 |
| Predicted Effect |
probably null
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 null
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 |
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 |
probably benign
Transcript: ENSMUST00000205746
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Accsl |
T |
C |
2: 93,699,498 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,530,472 (GRCm39) |
K5867N |
possibly damaging |
Het |
| Adh1 |
T |
A |
3: 137,988,571 (GRCm39) |
Y181* |
probably null |
Het |
| Agbl2 |
T |
C |
2: 90,631,458 (GRCm39) |
V272A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,354,275 (GRCm39) |
Y80H |
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,526,063 (GRCm39) |
S6T |
probably benign |
Het |
| Bicd1 |
T |
A |
6: 149,414,391 (GRCm39) |
V368E |
probably damaging |
Het |
| Brinp2 |
G |
A |
1: 158,074,273 (GRCm39) |
T616I |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,802 (GRCm39) |
V391E |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,318,033 (GRCm39) |
I1450F |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,088,607 (GRCm39) |
|
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,826,875 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,166,995 (GRCm39) |
A1884T |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,282,462 (GRCm39) |
I510T |
probably damaging |
Het |
| Copb1 |
A |
T |
7: 113,831,432 (GRCm39) |
V572D |
probably benign |
Het |
| Ctf1 |
AGCAAC |
A |
7: 127,316,180 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,354,179 (GRCm39) |
L3053Q |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,361,564 (GRCm39) |
H531Q |
possibly damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,790 (GRCm39) |
C377* |
probably null |
Het |
| Frmd4a |
T |
C |
2: 4,608,711 (GRCm39) |
F860L |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,091 (GRCm39) |
N519D |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,795,083 (GRCm39) |
S468P |
possibly damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,185,089 (GRCm39) |
Y916H |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,816,079 (GRCm39) |
D1336G |
possibly damaging |
Het |
| Herc2 |
G |
T |
7: 55,762,848 (GRCm39) |
G859V |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,322,114 (GRCm39) |
D4589N |
probably damaging |
Het |
| Itfg1 |
A |
T |
8: 86,490,875 (GRCm39) |
N351K |
possibly damaging |
Het |
| Kcnd3 |
G |
A |
3: 105,572,863 (GRCm39) |
|
probably null |
Het |
| Krt77 |
A |
T |
15: 101,769,779 (GRCm39) |
Y364N |
probably damaging |
Het |
| Lcn4 |
C |
T |
2: 26,560,613 (GRCm39) |
|
probably null |
Het |
| Lrrn1 |
T |
A |
6: 107,545,505 (GRCm39) |
H434Q |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,346,687 (GRCm39) |
I205T |
probably damaging |
Het |
| Mepce |
G |
C |
5: 137,783,759 (GRCm39) |
P189R |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,330,084 (GRCm39) |
K221E |
probably benign |
Het |
| Ncbp3 |
T |
C |
11: 72,938,727 (GRCm39) |
M1T |
probably null |
Het |
| Nck1 |
A |
T |
9: 100,379,369 (GRCm39) |
M294K |
probably benign |
Het |
| Nr2f2 |
A |
T |
7: 70,010,056 (GRCm39) |
W8R |
probably damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,187 (GRCm39) |
S8T |
possibly damaging |
Het |
| Or1e20-ps1 |
T |
A |
11: 73,324,818 (GRCm39) |
Q78L |
unknown |
Het |
| Or4c12b |
A |
T |
2: 89,647,553 (GRCm39) |
R288S |
probably damaging |
Het |
| Or6ae1 |
T |
A |
7: 139,742,822 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,816 (GRCm39) |
L33P |
possibly damaging |
Het |
| Or8g18 |
T |
C |
9: 39,149,625 (GRCm39) |
T32A |
probably benign |
Het |
| Or8j3c |
A |
T |
2: 86,253,707 (GRCm39) |
F104L |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,286 (GRCm39) |
K650R |
probably benign |
Het |
| Pgm1 |
T |
A |
4: 99,841,242 (GRCm39) |
I532N |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,939,321 (GRCm39) |
K1672N |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,552,835 (GRCm39) |
G446S |
probably benign |
Het |
| Ppm1j |
T |
C |
3: 104,693,134 (GRCm39) |
I497T |
probably damaging |
Het |
| Pprc1 |
C |
T |
19: 46,056,500 (GRCm39) |
Q1202* |
probably null |
Het |
| Pramel30 |
T |
A |
4: 144,059,678 (GRCm39) |
I463N |
possibly damaging |
Het |
| Prdm15 |
T |
C |
16: 97,607,704 (GRCm39) |
N713S |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,138,142 (GRCm39) |
T62A |
probably benign |
Het |
| Rabl2 |
T |
A |
15: 89,474,631 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
T |
15: 9,037,176 (GRCm39) |
R149* |
probably null |
Het |
| Resf1 |
T |
A |
6: 149,229,793 (GRCm39) |
Y946* |
probably null |
Het |
| Rfx4 |
T |
A |
10: 84,674,050 (GRCm39) |
M1K |
probably null |
Het |
| Ripk4 |
G |
T |
16: 97,547,098 (GRCm39) |
S388* |
probably null |
Het |
| Rnft1 |
T |
G |
11: 86,377,065 (GRCm39) |
I43R |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,899,781 (GRCm39) |
F1295L |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,865,409 (GRCm39) |
D682G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,812,734 (GRCm39) |
|
probably null |
Het |
| Slc7a5 |
G |
T |
8: 122,613,616 (GRCm39) |
T312K |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,799,643 (GRCm39) |
N64K |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,929,849 (GRCm39) |
T469I |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,687,754 (GRCm39) |
N440I |
probably benign |
Het |
| Tas2r114 |
T |
A |
6: 131,666,746 (GRCm39) |
Q94L |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,186,271 (GRCm39) |
C823* |
probably null |
Het |
| Tfr2 |
A |
G |
5: 137,575,769 (GRCm39) |
D295G |
possibly damaging |
Het |
| Thap7 |
A |
G |
16: 17,348,152 (GRCm39) |
Y60H |
probably damaging |
Het |
| Tjap1 |
G |
T |
17: 46,569,733 (GRCm39) |
P409H |
probably damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,209,204 (GRCm39) |
A147V |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,017,648 (GRCm39) |
S751T |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,221 (GRCm39) |
V193A |
probably benign |
Het |
| Trafd1 |
T |
C |
5: 121,516,837 (GRCm39) |
N122S |
possibly damaging |
Het |
| Vmn1r151 |
T |
A |
7: 22,199,096 (GRCm39) |
D3V |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,272,825 (GRCm39) |
Y96C |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,475,573 (GRCm39) |
V880A |
probably benign |
Het |
| Zfp598 |
A |
G |
17: 24,896,568 (GRCm39) |
D215G |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,484 (GRCm39) |
S509P |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,817,635 (GRCm39) |
C785* |
probably null |
Het |
| Zfp985 |
C |
T |
4: 147,667,999 (GRCm39) |
T289I |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,712,795 (GRCm39) |
Y243N |
probably damaging |
Het |
|
| Other mutations in Myo7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Myo7a
|
APN |
7 |
97,751,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Myo7a
|
APN |
7 |
97,703,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00840:Myo7a
|
APN |
7 |
97,700,866 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01362:Myo7a
|
APN |
7 |
97,746,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Myo7a
|
APN |
7 |
97,734,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01673:Myo7a
|
APN |
7 |
97,703,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Myo7a
|
APN |
7 |
97,732,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Myo7a
|
APN |
7 |
97,714,854 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02188:Myo7a
|
APN |
7 |
97,740,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02304:Myo7a
|
APN |
7 |
97,726,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02305:Myo7a
|
APN |
7 |
97,700,836 (GRCm39) |
makesense |
probably null |
|
|
IGL02331:Myo7a
|
APN |
7 |
97,702,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02386:Myo7a
|
APN |
7 |
97,724,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02389:Myo7a
|
APN |
7 |
97,756,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02832:Myo7a
|
APN |
7 |
97,740,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02839:Myo7a
|
APN |
7 |
97,740,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Myo7a
|
APN |
7 |
97,740,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Myo7a
|
APN |
7 |
97,751,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Myo7a
|
APN |
7 |
97,742,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
coward
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Myo7a
|
UTSW |
7 |
97,744,985 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03046:Myo7a
|
UTSW |
7 |
97,728,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Myo7a
|
UTSW |
7 |
97,705,974 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4696001:Myo7a
|
UTSW |
7 |
97,712,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Myo7a
|
UTSW |
7 |
97,714,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0071:Myo7a
|
UTSW |
7 |
97,706,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0267:Myo7a
|
UTSW |
7 |
97,703,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0408:Myo7a
|
UTSW |
7 |
97,705,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Myo7a
|
UTSW |
7 |
97,721,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Myo7a
|
UTSW |
7 |
97,721,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Myo7a
|
UTSW |
7 |
97,761,357 (GRCm39) |
intron |
probably benign |
|
|
R0659:Myo7a
|
UTSW |
7 |
97,703,545 (GRCm39) |
splice site |
probably benign |
|
|
R0735:Myo7a
|
UTSW |
7 |
97,730,387 (GRCm39) |
splice site |
probably benign |
|
|
R0924:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0930:Myo7a
|
UTSW |
7 |
97,747,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1018:Myo7a
|
UTSW |
7 |
97,756,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Myo7a
|
UTSW |
7 |
97,746,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1331:Myo7a
|
UTSW |
7 |
97,756,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1487:Myo7a
|
UTSW |
7 |
97,703,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1676:Myo7a
|
UTSW |
7 |
97,748,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1695:Myo7a
|
UTSW |
7 |
97,741,703 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1770:Myo7a
|
UTSW |
7 |
97,761,813 (GRCm39) |
intron |
probably benign |
|
|
R1781:Myo7a
|
UTSW |
7 |
97,722,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Myo7a
|
UTSW |
7 |
97,756,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1827:Myo7a
|
UTSW |
7 |
97,725,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1864:Myo7a
|
UTSW |
7 |
97,701,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Myo7a
|
UTSW |
7 |
97,704,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Myo7a
|
UTSW |
7 |
97,703,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2229:Myo7a
|
UTSW |
7 |
97,704,117 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2259:Myo7a
|
UTSW |
7 |
97,718,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Myo7a
|
UTSW |
7 |
97,744,976 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2898:Myo7a
|
UTSW |
7 |
97,746,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Myo7a
|
UTSW |
7 |
97,703,631 (GRCm39) |
nonsense |
probably null |
|
|
R3158:Myo7a
|
UTSW |
7 |
97,701,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3408:Myo7a
|
UTSW |
7 |
97,730,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4222:Myo7a
|
UTSW |
7 |
97,722,436 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4255:Myo7a
|
UTSW |
7 |
97,721,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4374:Myo7a
|
UTSW |
7 |
97,751,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Myo7a
|
UTSW |
7 |
97,702,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4445:Myo7a
|
UTSW |
7 |
97,715,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Myo7a
|
UTSW |
7 |
97,722,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Myo7a
|
UTSW |
7 |
97,734,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Myo7a
|
UTSW |
7 |
97,722,425 (GRCm39) |
nonsense |
probably null |
|
|
R5138:Myo7a
|
UTSW |
7 |
97,732,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Myo7a
|
UTSW |
7 |
97,714,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5580:Myo7a
|
UTSW |
7 |
97,722,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6079:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
|
R6138:Myo7a
|
UTSW |
7 |
97,714,997 (GRCm39) |
nonsense |
probably null |
|
|
R6451:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6453:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6454:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Myo7a
|
UTSW |
7 |
97,722,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6465:Myo7a
|
UTSW |
7 |
97,711,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6653:Myo7a
|
UTSW |
7 |
97,703,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6709:Myo7a
|
UTSW |
7 |
97,703,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Myo7a
|
UTSW |
7 |
97,744,970 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7313:Myo7a
|
UTSW |
7 |
97,713,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Myo7a
|
UTSW |
7 |
97,728,573 (GRCm39) |
missense |
probably benign |
|
|
R7356:Myo7a
|
UTSW |
7 |
97,751,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7393:Myo7a
|
UTSW |
7 |
97,712,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7422:Myo7a
|
UTSW |
7 |
97,700,833 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AGACACGTGACTTCTCCAGC -3'
(R):5'- ACAACTGCGGCTAGTGTCAC -3'
Sequencing Primer
(F):5'- ACGTGACTTCTCCAGCAGGTATTG -3'
(R):5'- GGCTAGTGTCACAGCCAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation