Incidental Mutation 'R1864:Myo7a'
| ID |
208500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo7a
|
| Ensembl Gene |
ENSMUSG00000030761 |
| Gene Name |
myosin VIIA |
| Synonyms |
nmf371, USH1B, polka, Hdb, Myo7 |
| MMRRC Submission |
039887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97700267-97768731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97701463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 2115
(Y2115C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000084979]
[ENSMUST00000107122]
[ENSMUST00000107127]
[ENSMUST00000107128]
[ENSMUST00000156992]
[ENSMUST00000170049]
[ENSMUST00000205746]
|
| AlphaFold |
P97479 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041860
|
| SMART Domains |
Protein: ENSMUSP00000036772
Gene: ENSMUSG00000035582
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
281 |
440 |
1.4e-19 |
PFAM |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084979
AA Change: Y2117C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: Y2117C
| 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: Y2123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: Y2123C
| 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: Y2128C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: Y2128C
| 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: Y2166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: Y2166C
| 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 benign
Transcript: ENSMUST00000170049
|
| SMART Domains |
Protein: ENSMUSP00000131960
Gene: ENSMUSG00000035582
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
281 |
439 |
3.4e-21 |
PFAM |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205746
AA Change: Y2115C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
| 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: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,598,016 (GRCm39) |
Y1198H |
possibly damaging |
Het |
| Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,508,610 (GRCm39) |
N329K |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,253 (GRCm39) |
G741V |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,357,053 (GRCm39) |
D191G |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,149,482 (GRCm39) |
T1512I |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,701,395 (GRCm39) |
C81S |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,640 (GRCm39) |
H399Q |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,919,294 (GRCm39) |
E304G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,446 (GRCm39) |
Y771C |
probably damaging |
Het |
| Birc2 |
G |
T |
9: 7,819,518 (GRCm39) |
Q465K |
probably benign |
Het |
| Btla |
C |
T |
16: 45,070,737 (GRCm39) |
T232I |
probably damaging |
Het |
| Ccl7 |
G |
T |
11: 81,937,378 (GRCm39) |
K37N |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,061,967 (GRCm39) |
V233A |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,329,018 (GRCm39) |
C66R |
probably damaging |
Het |
| Cilp2 |
C |
A |
8: 70,333,973 (GRCm39) |
Q1008H |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,120,113 (GRCm39) |
T269A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,534,385 (GRCm39) |
|
probably null |
Het |
| Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,931,739 (GRCm39) |
D123G |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,045,105 (GRCm39) |
L808Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,342,043 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
| Diaph2 |
G |
A |
X: 128,860,876 (GRCm39) |
R473Q |
probably damaging |
Het |
| Dnd1 |
A |
G |
18: 36,899,057 (GRCm39) |
C11R |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,748,236 (GRCm39) |
D1566A |
probably benign |
Het |
| Drp2 |
A |
G |
X: 133,327,864 (GRCm39) |
I43V |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,849,942 (GRCm39) |
H427L |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,934 (GRCm39) |
E725G |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,935,803 (GRCm39) |
Y487C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,018,246 (GRCm39) |
L919H |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,837 (GRCm39) |
S214T |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,283,869 (GRCm39) |
T521A |
probably benign |
Het |
| Foxi1 |
T |
A |
11: 34,157,531 (GRCm39) |
I165F |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,543,103 (GRCm39) |
K633N |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,098,206 (GRCm39) |
I209T |
probably benign |
Het |
| Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,057,384 (GRCm39) |
D328V |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,660,056 (GRCm39) |
S534P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,573,092 (GRCm39) |
T792A |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,695,870 (GRCm39) |
|
probably null |
Het |
| Hps3 |
T |
A |
3: 20,074,123 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,413 (GRCm39) |
I409T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,853,230 (GRCm39) |
Q108L |
probably damaging |
Het |
| Klc3 |
A |
G |
7: 19,131,966 (GRCm39) |
V137A |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,841,742 (GRCm39) |
F576I |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,837,459 (GRCm39) |
I144V |
possibly damaging |
Het |
| Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
| Mitf |
A |
T |
6: 97,987,383 (GRCm39) |
N159I |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,412,893 (GRCm39) |
I678T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,576,625 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,975,153 (GRCm39) |
I182V |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,272,245 (GRCm39) |
V635A |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,102,772 (GRCm39) |
Y4257* |
probably null |
Het |
| Npr2 |
T |
A |
4: 43,641,258 (GRCm39) |
V428E |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,124 (GRCm39) |
D346G |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,469,753 (GRCm39) |
S1088F |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,081 (GRCm39) |
I163M |
possibly damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,030 (GRCm39) |
N286S |
possibly damaging |
Het |
| Or4c127 |
T |
A |
2: 89,832,825 (GRCm39) |
V25E |
probably benign |
Het |
| Or4k38 |
C |
T |
2: 111,166,052 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,378 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,560 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,204,789 (GRCm39) |
V550I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,185,389 (GRCm39) |
L237* |
probably null |
Het |
| Pla2r1 |
G |
A |
2: 60,259,055 (GRCm39) |
T1111M |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
| Pnp |
G |
C |
14: 51,185,430 (GRCm39) |
A67P |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,707 (GRCm39) |
D203G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,635,153 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
C |
A |
4: 43,421,719 (GRCm39) |
A713D |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,560,673 (GRCm39) |
H3009Q |
possibly damaging |
Het |
| Serpina1d |
C |
A |
12: 103,734,256 (GRCm39) |
C16F |
probably benign |
Het |
| Serpinf2 |
G |
T |
11: 75,328,309 (GRCm39) |
R80S |
possibly damaging |
Het |
| Sh2d4a |
C |
A |
8: 68,781,967 (GRCm39) |
Q192K |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,044,729 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,046 (GRCm39) |
L55Q |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,481,287 (GRCm39) |
D255G |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,483,106 (GRCm39) |
H170Q |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,703,509 (GRCm39) |
Y261C |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,071 (GRCm39) |
N102K |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,152 (GRCm39) |
I307K |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,773,828 (GRCm39) |
S548T |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,694 (GRCm39) |
S524P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,905,699 (GRCm39) |
D152G |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
| Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,917,764 (GRCm39) |
K1258R |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,494,003 (GRCm39) |
V321A |
probably benign |
Het |
| Ube2c |
C |
A |
2: 164,611,943 (GRCm39) |
A15E |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
| Umod |
A |
T |
7: 119,062,478 (GRCm39) |
L631M |
probably damaging |
Het |
| Ush1c |
G |
A |
7: 45,868,816 (GRCm39) |
Q373* |
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Wnt8b |
T |
C |
19: 44,482,029 (GRCm39) |
L14P |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,778,892 (GRCm39) |
A563V |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,348,998 (GRCm39) |
Q145L |
possibly damaging |
Het |
| Zfp608 |
A |
G |
18: 55,030,983 (GRCm39) |
S986P |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,233,373 (GRCm39) |
H228R |
possibly 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 |
|
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'- AGCTGAATGATGGCTCTCTTCC -3'
(R):5'- CTTGGGCAAGGCAAAGCATG -3'
Sequencing Primer
(F):5'- GAATGATGGCTCTCTTCCTCCAC -3'
(R):5'- TGGCAGCTCCACACAGAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation