Incidental Mutation 'R0242:Myo5b'
| ID |
59618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5b
|
| Ensembl Gene |
ENSMUSG00000025885 |
| Gene Name |
myosin VB |
| Synonyms |
|
| MMRRC Submission |
038480-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
R0242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74575435-74905769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74794787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 552
(H552R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074157]
[ENSMUST00000121875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074157
AA Change: H552R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: H552R
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
763 |
N/A |
SMART |
|
IQ
|
764 |
786 |
2.41e-4 |
SMART |
|
IQ
|
787 |
809 |
7.7e-3 |
SMART |
|
IQ
|
812 |
834 |
2.18e-2 |
SMART |
|
IQ
|
835 |
857 |
1.72e0 |
SMART |
|
IQ
|
860 |
882 |
7.52e-6 |
SMART |
|
IQ
|
883 |
905 |
4.12e-3 |
SMART |
|
low complexity region
|
1053 |
1065 |
N/A |
INTRINSIC |
|
coiled coil region
|
1140 |
1261 |
N/A |
INTRINSIC |
|
coiled coil region
|
1311 |
1415 |
N/A |
INTRINSIC |
|
DIL
|
1650 |
1755 |
7.48e-51 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120161
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121875
AA Change: H552R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: H552R
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
63 |
763 |
N/A |
SMART |
|
IQ
|
764 |
786 |
2.41e-4 |
SMART |
|
IQ
|
787 |
809 |
7.7e-3 |
SMART |
|
IQ
|
812 |
834 |
2.18e-2 |
SMART |
|
IQ
|
835 |
857 |
1.72e0 |
SMART |
|
IQ
|
860 |
882 |
7.52e-6 |
SMART |
|
IQ
|
883 |
905 |
4.12e-3 |
SMART |
|
low complexity region
|
1053 |
1065 |
N/A |
INTRINSIC |
|
coiled coil region
|
1140 |
1261 |
N/A |
INTRINSIC |
|
coiled coil region
|
1332 |
1441 |
N/A |
INTRINSIC |
|
DIL
|
1676 |
1781 |
7.48e-51 |
SMART |
|
| Meta Mutation Damage Score |
0.9722 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (110/113) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,676 (GRCm39) |
D230G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 10,037,561 (GRCm39) |
I53V |
probably benign |
Het |
| Adgrl2 |
A |
C |
3: 148,544,821 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,794,088 (GRCm39) |
A596V |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,029,414 (GRCm39) |
Y262* |
probably null |
Het |
| Ambn |
A |
G |
5: 88,615,831 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,750,344 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,165,407 (GRCm39) |
H430Q |
probably benign |
Het |
| Arhgef25 |
C |
T |
10: 127,019,933 (GRCm39) |
G435E |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,751,366 (GRCm39) |
D120V |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,738 (GRCm39) |
E576K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,776 (GRCm39) |
E141G |
probably benign |
Het |
| Bmpr1b |
G |
A |
3: 141,546,437 (GRCm39) |
T483M |
probably damaging |
Het |
| Caprin2 |
C |
T |
6: 148,744,452 (GRCm39) |
S991N |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,892,129 (GRCm39) |
I286M |
possibly damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,009,237 (GRCm39) |
F480L |
probably benign |
Het |
| Celf5 |
T |
C |
10: 81,300,243 (GRCm39) |
T258A |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,628,939 (GRCm39) |
V577A |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,547,226 (GRCm39) |
S304P |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,232,108 (GRCm39) |
H993Q |
probably benign |
Het |
| Cnbp |
A |
T |
6: 87,822,746 (GRCm39) |
C6S |
probably damaging |
Het |
| Col14a1 |
C |
T |
15: 55,360,907 (GRCm39) |
R1605W |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,941,817 (GRCm39) |
N11S |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,448,042 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
T |
C |
6: 53,909,485 (GRCm39) |
H217R |
possibly damaging |
Het |
| Cuedc1 |
T |
C |
11: 88,075,447 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,369 (GRCm39) |
Y68C |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,710 (GRCm39) |
T1324M |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,777,562 (GRCm39) |
D268G |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,207,001 (GRCm39) |
M535L |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,850,517 (GRCm39) |
F1575Y |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,326,275 (GRCm39) |
H403L |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,616,285 (GRCm39) |
D3112G |
possibly damaging |
Het |
| Eno3 |
A |
G |
11: 70,548,761 (GRCm39) |
E21G |
probably null |
Het |
| Fam120b |
T |
A |
17: 15,643,186 (GRCm39) |
V655D |
probably damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,647,426 (GRCm39) |
D136E |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,573 (GRCm39) |
Y179* |
probably null |
Het |
| Gfer |
A |
G |
17: 24,913,277 (GRCm39) |
W192R |
probably damaging |
Het |
| Gm4782 |
A |
G |
6: 50,586,838 (GRCm39) |
T408A |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,695,992 (GRCm39) |
Q164* |
probably null |
Het |
| Gpnmb |
A |
G |
6: 49,024,276 (GRCm39) |
N197S |
probably damaging |
Het |
| Gtf2f1 |
G |
A |
17: 57,310,802 (GRCm39) |
T414M |
probably benign |
Het |
| Hc |
A |
G |
2: 34,926,166 (GRCm39) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,992,035 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,872,223 (GRCm39) |
R2539Q |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,988,160 (GRCm39) |
I19F |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,871,114 (GRCm39) |
T172A |
unknown |
Het |
| Jmy |
A |
G |
13: 93,578,126 (GRCm39) |
Y681H |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,508 (GRCm39) |
T36A |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,525 (GRCm39) |
D267G |
probably damaging |
Het |
| Krt34 |
C |
T |
11: 99,932,157 (GRCm39) |
E56K |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,429,568 (GRCm39) |
E335D |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,454 (GRCm39) |
Y282* |
probably null |
Het |
| Lgi3 |
C |
T |
14: 70,772,255 (GRCm39) |
R267* |
probably null |
Het |
| Lnpk |
A |
G |
2: 74,367,633 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,195 (GRCm39) |
H2355L |
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,285,401 (GRCm39) |
R542H |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,155,642 (GRCm39) |
Y452H |
probably damaging |
Het |
| Mmachc |
C |
T |
4: 116,561,738 (GRCm39) |
R132Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,440,882 (GRCm39) |
N356K |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,967 (GRCm39) |
D884G |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,273,753 (GRCm39) |
V96A |
probably benign |
Het |
| Nr1d2 |
T |
A |
14: 18,211,933 (GRCm38) |
D390V |
possibly damaging |
Het |
| Oas1e |
A |
T |
5: 120,929,839 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,211,516 (GRCm39) |
V786D |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,874,538 (GRCm39) |
S299G |
probably benign |
Het |
| Or6c1b |
T |
A |
10: 129,273,217 (GRCm39) |
Y179N |
probably damaging |
Het |
| Otog |
G |
T |
7: 45,916,805 (GRCm39) |
C914F |
probably damaging |
Het |
| Pank2 |
G |
T |
2: 131,122,117 (GRCm39) |
C214F |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,788 (GRCm39) |
S580T |
probably benign |
Het |
| Pdia3 |
T |
C |
2: 121,244,592 (GRCm39) |
S2P |
probably damaging |
Het |
| Peli1 |
G |
T |
11: 21,092,602 (GRCm39) |
R83L |
probably damaging |
Het |
| Pla2g3 |
T |
A |
11: 3,441,935 (GRCm39) |
C366* |
probably null |
Het |
| Pon3 |
T |
A |
6: 5,240,860 (GRCm39) |
D107V |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,816 (GRCm39) |
C532R |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,953,608 (GRCm39) |
D174V |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,210,738 (GRCm39) |
M270T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,400,155 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
A |
T |
5: 110,927,664 (GRCm39) |
H30Q |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,070,092 (GRCm39) |
S354P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,982,114 (GRCm39) |
V87E |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,628,907 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,147,595 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
A |
G |
13: 51,572,938 (GRCm39) |
T40A |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,677 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
A |
16: 55,999,884 (GRCm39) |
I853N |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,083,230 (GRCm39) |
|
probably benign |
Het |
| Shroom1 |
T |
G |
11: 53,356,312 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
T |
C |
2: 145,448,584 (GRCm39) |
I376T |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,359,493 (GRCm39) |
I375T |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,666,733 (GRCm39) |
F527S |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,674,286 (GRCm39) |
I924N |
probably damaging |
Het |
| Slx4 |
T |
A |
16: 3,804,816 (GRCm39) |
E666V |
probably damaging |
Het |
| Snrnp27 |
G |
A |
6: 86,652,575 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,216,659 (GRCm39) |
G640E |
probably damaging |
Het |
| Spmap2l |
G |
T |
5: 77,164,152 (GRCm39) |
E52* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,908,413 (GRCm39) |
M1725L |
probably benign |
Het |
| Sync |
G |
A |
4: 129,187,514 (GRCm39) |
R182K |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,144,808 (GRCm39) |
G1586S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,768 (GRCm39) |
T522K |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,410,781 (GRCm39) |
K414* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,644,929 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,503,915 (GRCm39) |
T413I |
probably benign |
Het |
| Tm9sf1 |
C |
T |
14: 55,875,392 (GRCm39) |
A451T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,656,496 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,054 (GRCm39) |
I140V |
possibly damaging |
Het |
| Ushbp1 |
C |
A |
8: 71,842,762 (GRCm39) |
G361* |
probably null |
Het |
| Wbp2nl |
C |
T |
15: 82,197,988 (GRCm39) |
A175V |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,738,330 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,031 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Myo5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00798:Myo5b
|
APN |
18 |
74,787,147 (GRCm39) |
splice site |
probably benign |
|
|
IGL01083:Myo5b
|
APN |
18 |
74,866,974 (GRCm39) |
splice site |
probably benign |
|
|
IGL01448:Myo5b
|
APN |
18 |
74,777,161 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01516:Myo5b
|
APN |
18 |
74,760,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01525:Myo5b
|
APN |
18 |
74,873,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01873:Myo5b
|
APN |
18 |
74,713,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01887:Myo5b
|
APN |
18 |
74,848,007 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01953:Myo5b
|
APN |
18 |
74,702,838 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01976:Myo5b
|
APN |
18 |
74,831,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Myo5b
|
APN |
18 |
74,850,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Myo5b
|
APN |
18 |
74,771,111 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02624:Myo5b
|
APN |
18 |
74,848,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02707:Myo5b
|
APN |
18 |
74,828,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL02806:Myo5b
|
APN |
18 |
74,750,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03009:Myo5b
|
APN |
18 |
74,894,039 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03061:Myo5b
|
APN |
18 |
74,713,615 (GRCm39) |
splice site |
probably benign |
|
|
IGL03061:Myo5b
|
APN |
18 |
74,767,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
unrat
|
UTSW |
18 |
74,786,432 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB007:Myo5b
|
UTSW |
18 |
74,864,825 (GRCm39) |
missense |
probably benign |
|
|
BB017:Myo5b
|
UTSW |
18 |
74,864,825 (GRCm39) |
missense |
probably benign |
|
|
R0085:Myo5b
|
UTSW |
18 |
74,834,751 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0114:Myo5b
|
UTSW |
18 |
74,875,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0226:Myo5b
|
UTSW |
18 |
74,875,251 (GRCm39) |
missense |
probably benign |
|
|
R0242:Myo5b
|
UTSW |
18 |
74,794,787 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0471:Myo5b
|
UTSW |
18 |
74,862,025 (GRCm39) |
splice site |
probably benign |
|
|
R0494:Myo5b
|
UTSW |
18 |
74,787,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Myo5b
|
UTSW |
18 |
74,758,712 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1144:Myo5b
|
UTSW |
18 |
74,758,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Myo5b
|
UTSW |
18 |
74,777,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Myo5b
|
UTSW |
18 |
74,777,272 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Myo5b
|
UTSW |
18 |
74,873,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Myo5b
|
UTSW |
18 |
74,873,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1555:Myo5b
|
UTSW |
18 |
74,702,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Myo5b
|
UTSW |
18 |
74,867,061 (GRCm39) |
missense |
probably benign |
|
|
R1600:Myo5b
|
UTSW |
18 |
74,846,611 (GRCm39) |
unclassified |
probably benign |
|
|
R1639:Myo5b
|
UTSW |
18 |
74,840,987 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1779:Myo5b
|
UTSW |
18 |
74,875,218 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1806:Myo5b
|
UTSW |
18 |
74,710,680 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1929:Myo5b
|
UTSW |
18 |
74,866,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2046:Myo5b
|
UTSW |
18 |
74,710,526 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2093:Myo5b
|
UTSW |
18 |
74,892,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2270:Myo5b
|
UTSW |
18 |
74,866,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2272:Myo5b
|
UTSW |
18 |
74,866,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2298:Myo5b
|
UTSW |
18 |
74,758,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2433:Myo5b
|
UTSW |
18 |
74,892,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Myo5b
|
UTSW |
18 |
74,895,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Myo5b
|
UTSW |
18 |
74,794,726 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3937:Myo5b
|
UTSW |
18 |
74,849,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3938:Myo5b
|
UTSW |
18 |
74,849,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3947:Myo5b
|
UTSW |
18 |
74,828,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3971:Myo5b
|
UTSW |
18 |
74,873,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Myo5b
|
UTSW |
18 |
74,873,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Myo5b
|
UTSW |
18 |
74,767,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Myo5b
|
UTSW |
18 |
74,892,311 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4080:Myo5b
|
UTSW |
18 |
74,873,559 (GRCm39) |
missense |
probably benign |
|
|
R4285:Myo5b
|
UTSW |
18 |
74,847,920 (GRCm39) |
missense |
probably benign |
|
|
R4308:Myo5b
|
UTSW |
18 |
74,864,811 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4411:Myo5b
|
UTSW |
18 |
74,831,345 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4415:Myo5b
|
UTSW |
18 |
74,713,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4516:Myo5b
|
UTSW |
18 |
74,758,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Myo5b
|
UTSW |
18 |
74,855,533 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4781:Myo5b
|
UTSW |
18 |
74,877,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4786:Myo5b
|
UTSW |
18 |
74,828,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Myo5b
|
UTSW |
18 |
74,877,701 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4924:Myo5b
|
UTSW |
18 |
74,828,455 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4972:Myo5b
|
UTSW |
18 |
74,760,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5004:Myo5b
|
UTSW |
18 |
74,877,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5024:Myo5b
|
UTSW |
18 |
74,849,105 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5043:Myo5b
|
UTSW |
18 |
74,771,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5187:Myo5b
|
UTSW |
18 |
74,834,745 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5232:Myo5b
|
UTSW |
18 |
74,848,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Myo5b
|
UTSW |
18 |
74,833,677 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5255:Myo5b
|
UTSW |
18 |
74,795,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5715:Myo5b
|
UTSW |
18 |
74,875,246 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5733:Myo5b
|
UTSW |
18 |
74,787,128 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5797:Myo5b
|
UTSW |
18 |
74,834,592 (GRCm39) |
missense |
probably benign |
|
|
R5875:Myo5b
|
UTSW |
18 |
74,840,973 (GRCm39) |
splice site |
probably null |
|
|
R6088:Myo5b
|
UTSW |
18 |
74,853,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6104:Myo5b
|
UTSW |
18 |
74,833,750 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6237:Myo5b
|
UTSW |
18 |
74,875,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Myo5b
|
UTSW |
18 |
74,710,511 (GRCm39) |
splice site |
probably null |
|
|
R6267:Myo5b
|
UTSW |
18 |
74,750,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Myo5b
|
UTSW |
18 |
74,750,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Myo5b
|
UTSW |
18 |
74,750,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Myo5b
|
UTSW |
18 |
74,750,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Myo5b
|
UTSW |
18 |
74,903,456 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6479:Myo5b
|
UTSW |
18 |
74,750,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6748:Myo5b
|
UTSW |
18 |
74,834,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6749:Myo5b
|
UTSW |
18 |
74,834,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6750:Myo5b
|
UTSW |
18 |
74,750,106 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6833:Myo5b
|
UTSW |
18 |
74,903,396 (GRCm39) |
missense |
probably benign |
|
|
R6876:Myo5b
|
UTSW |
18 |
74,841,026 (GRCm39) |
missense |
probably benign |
|
|
R6880:Myo5b
|
UTSW |
18 |
74,855,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6902:Myo5b
|
UTSW |
18 |
74,809,756 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6985:Myo5b
|
UTSW |
18 |
74,786,432 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7039:Myo5b
|
UTSW |
18 |
74,834,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7162:Myo5b
|
UTSW |
18 |
74,828,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7345:Myo5b
|
UTSW |
18 |
74,841,095 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7530:Myo5b
|
UTSW |
18 |
74,864,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7564:Myo5b
|
UTSW |
18 |
74,767,582 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7629:Myo5b
|
UTSW |
18 |
74,760,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7635:Myo5b
|
UTSW |
18 |
74,713,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Myo5b
|
UTSW |
18 |
74,834,517 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7754:Myo5b
|
UTSW |
18 |
74,767,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7930:Myo5b
|
UTSW |
18 |
74,864,825 (GRCm39) |
missense |
probably benign |
|
|
R8013:Myo5b
|
UTSW |
18 |
74,893,970 (GRCm39) |
nonsense |
probably null |
|
|
R8271:Myo5b
|
UTSW |
18 |
74,760,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Myo5b
|
UTSW |
18 |
74,867,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Myo5b
|
UTSW |
18 |
74,777,049 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8384:Myo5b
|
UTSW |
18 |
74,875,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Myo5b
|
UTSW |
18 |
74,903,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Myo5b
|
UTSW |
18 |
74,892,169 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8846:Myo5b
|
UTSW |
18 |
74,841,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9236:Myo5b
|
UTSW |
18 |
74,853,934 (GRCm39) |
missense |
probably benign |
|
|
R9283:Myo5b
|
UTSW |
18 |
74,777,149 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9370:Myo5b
|
UTSW |
18 |
74,760,246 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9506:Myo5b
|
UTSW |
18 |
74,877,831 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9523:Myo5b
|
UTSW |
18 |
74,861,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9622:Myo5b
|
UTSW |
18 |
74,848,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9676:Myo5b
|
UTSW |
18 |
74,892,231 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9725:Myo5b
|
UTSW |
18 |
74,856,841 (GRCm39) |
missense |
probably benign |
|
|
RF009:Myo5b
|
UTSW |
18 |
74,777,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Myo5b
|
UTSW |
18 |
74,877,820 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Myo5b
|
UTSW |
18 |
74,750,088 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCCTCTGTCTACCAGGATGC -3'
(R):5'- GGCTGCTCCAGAAGGAATCCAAAC -3'
Sequencing Primer
(F):5'- ACCAGGATGCTTCCCTGC -3'
(R):5'- TACTGCTATTGGAGAGCAGCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation