Incidental Mutation 'R0494:Myo5b'
ID |
42701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo5b
|
Ensembl Gene |
ENSMUSG00000025885 |
Gene Name |
myosin VB |
Synonyms |
|
MMRRC Submission |
038691-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R0494 (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 74787038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 481
(E481G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074157]
[ENSMUST00000121875]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074157
AA Change: E481G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073790 Gene: ENSMUSG00000025885 AA Change: E481G
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 |
probably damaging
Transcript: ENSMUST00000121875
AA Change: E481G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112728 Gene: ENSMUSG00000025885 AA Change: E481G
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 |
0.9569 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
97% (109/112) |
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: 108 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,402,339 (GRCm39) |
I116V |
probably benign |
Het |
Abhd18 |
T |
C |
3: 40,871,123 (GRCm39) |
F94S |
probably damaging |
Het |
Adam28 |
T |
A |
14: 68,868,241 (GRCm39) |
|
probably benign |
Het |
Afg2a |
G |
C |
3: 37,486,312 (GRCm39) |
D345H |
possibly damaging |
Het |
Amn1 |
A |
T |
6: 149,086,634 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,170,199 (GRCm39) |
V993A |
probably damaging |
Het |
Arhgap33 |
A |
T |
7: 30,223,921 (GRCm39) |
S703T |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,618,785 (GRCm39) |
|
probably benign |
Het |
Atg2a |
A |
G |
19: 6,303,407 (GRCm39) |
Y1083C |
probably damaging |
Het |
Atp2a3 |
T |
C |
11: 72,872,731 (GRCm39) |
F760L |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,403,271 (GRCm39) |
|
probably benign |
Het |
Batf |
C |
T |
12: 85,733,636 (GRCm39) |
|
probably benign |
Het |
BC051019 |
T |
A |
7: 109,317,182 (GRCm39) |
Y170F |
probably benign |
Het |
Bphl |
T |
C |
13: 34,221,754 (GRCm39) |
*37Q |
probably null |
Het |
Cab39l |
T |
C |
14: 59,737,008 (GRCm39) |
S43P |
probably damaging |
Het |
Cad |
A |
G |
5: 31,234,856 (GRCm39) |
|
probably benign |
Het |
Cct4 |
T |
G |
11: 22,946,014 (GRCm39) |
S119A |
probably benign |
Het |
Cd163 |
G |
A |
6: 124,288,408 (GRCm39) |
V280M |
probably damaging |
Het |
Cd86 |
A |
G |
16: 36,438,999 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,152,375 (GRCm39) |
|
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,852,431 (GRCm39) |
F145S |
probably damaging |
Het |
Cdt1 |
T |
C |
8: 123,298,799 (GRCm39) |
S479P |
possibly damaging |
Het |
Ces2g |
T |
C |
8: 105,693,199 (GRCm39) |
V372A |
probably benign |
Het |
Chrna3 |
T |
C |
9: 54,929,562 (GRCm39) |
D92G |
probably damaging |
Het |
Cndp1 |
A |
G |
18: 84,637,658 (GRCm39) |
S359P |
probably benign |
Het |
Cops4 |
A |
G |
5: 100,676,528 (GRCm39) |
Q93R |
probably damaging |
Het |
Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
Dmp1 |
A |
T |
5: 104,360,074 (GRCm39) |
D250V |
probably damaging |
Het |
Dnajb2 |
C |
T |
1: 75,216,278 (GRCm39) |
|
probably benign |
Het |
Dock9 |
T |
C |
14: 121,899,996 (GRCm39) |
T113A |
possibly damaging |
Het |
Egln3 |
T |
A |
12: 54,250,107 (GRCm39) |
I81F |
probably benign |
Het |
Elapor2 |
G |
A |
5: 9,470,723 (GRCm39) |
|
probably null |
Het |
Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,594,940 (GRCm39) |
N115K |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,403,579 (GRCm39) |
N110I |
probably damaging |
Het |
Fezf1 |
T |
A |
6: 23,246,054 (GRCm39) |
K370N |
probably damaging |
Het |
Galnt18 |
T |
A |
7: 111,153,771 (GRCm39) |
K284N |
probably damaging |
Het |
Glt8d1 |
C |
A |
14: 30,733,580 (GRCm39) |
T355K |
possibly damaging |
Het |
Gm17455 |
G |
A |
10: 60,239,014 (GRCm39) |
R93H |
possibly damaging |
Het |
Gng8 |
T |
A |
7: 16,629,213 (GRCm39) |
D46E |
probably benign |
Het |
Gpx4 |
T |
C |
10: 79,892,011 (GRCm39) |
|
probably benign |
Het |
Grk2 |
A |
T |
19: 4,341,347 (GRCm39) |
N189K |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,779,989 (GRCm39) |
V1143A |
probably benign |
Het |
Hibch |
A |
G |
1: 52,942,055 (GRCm39) |
E237G |
possibly damaging |
Het |
Hipk2 |
C |
T |
6: 38,706,924 (GRCm39) |
A682T |
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,608,543 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 34,979,188 (GRCm39) |
D857G |
possibly damaging |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Igsf8 |
A |
G |
1: 172,146,265 (GRCm39) |
E421G |
probably benign |
Het |
Kif26a |
T |
A |
12: 112,145,905 (GRCm39) |
|
probably null |
Het |
Klhl26 |
T |
C |
8: 70,904,251 (GRCm39) |
Y519C |
probably damaging |
Het |
Lamc1 |
A |
C |
1: 153,122,682 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,936,162 (GRCm39) |
S1455T |
possibly damaging |
Het |
Mitf |
G |
A |
6: 97,971,390 (GRCm39) |
G186S |
probably benign |
Het |
Ms4a15 |
G |
A |
19: 10,958,722 (GRCm39) |
|
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Nbeal2 |
C |
A |
9: 110,456,255 (GRCm39) |
V1686L |
probably damaging |
Het |
Nedd4l |
T |
G |
18: 65,306,092 (GRCm39) |
S335A |
possibly damaging |
Het |
Nos1 |
A |
T |
5: 118,043,539 (GRCm39) |
N605Y |
probably damaging |
Het |
Nyx |
C |
A |
X: 13,353,508 (GRCm39) |
T454K |
probably benign |
Het |
Or52n2 |
A |
G |
7: 104,542,478 (GRCm39) |
L119P |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,784,698 (GRCm39) |
N42K |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,571,148 (GRCm39) |
F765I |
probably benign |
Het |
Pex3 |
C |
T |
10: 13,403,532 (GRCm39) |
G330R |
probably damaging |
Het |
Pfkfb1 |
T |
C |
X: 149,417,609 (GRCm39) |
Y339H |
probably damaging |
Het |
Pias1 |
G |
A |
9: 62,794,593 (GRCm39) |
Q26* |
probably null |
Het |
Pik3cg |
C |
A |
12: 32,254,545 (GRCm39) |
V481L |
possibly damaging |
Het |
Plcg2 |
C |
T |
8: 118,282,843 (GRCm39) |
T108M |
probably damaging |
Het |
Pon2 |
G |
A |
6: 5,267,059 (GRCm39) |
|
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,400,952 (GRCm39) |
|
probably benign |
Het |
Pramel21 |
G |
T |
4: 143,342,726 (GRCm39) |
V278F |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,767,771 (GRCm39) |
K18E |
probably damaging |
Het |
Pum2 |
C |
T |
12: 8,771,736 (GRCm39) |
Q360* |
probably null |
Het |
Rab10 |
A |
C |
12: 3,302,723 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
G |
10: 58,303,254 (GRCm39) |
S809A |
possibly damaging |
Het |
Rbms2 |
A |
G |
10: 127,969,539 (GRCm39) |
V348A |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,316,838 (GRCm39) |
E988G |
possibly damaging |
Het |
Rnf213 |
A |
T |
11: 119,333,946 (GRCm39) |
M3052L |
probably damaging |
Het |
Rpl14 |
C |
A |
9: 120,403,428 (GRCm39) |
|
probably benign |
Het |
Rplp0 |
A |
G |
5: 115,697,931 (GRCm39) |
Y13C |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,703,218 (GRCm39) |
|
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,324 (GRCm39) |
E98G |
probably damaging |
Het |
Scn10a |
T |
A |
9: 119,453,166 (GRCm39) |
D1242V |
probably damaging |
Het |
Scnn1b |
T |
C |
7: 121,498,681 (GRCm39) |
Y74H |
probably damaging |
Het |
Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
Sf3b4 |
C |
A |
3: 96,081,017 (GRCm39) |
D108E |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,032,935 (GRCm39) |
V307A |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,781,426 (GRCm39) |
D458G |
probably benign |
Het |
Strc |
T |
C |
2: 121,210,014 (GRCm39) |
D103G |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,910,369 (GRCm39) |
I923T |
probably benign |
Het |
Tango6 |
G |
T |
8: 107,462,314 (GRCm39) |
|
probably benign |
Het |
Tas2r106 |
A |
G |
6: 131,655,539 (GRCm39) |
L104P |
probably damaging |
Het |
Tat |
C |
T |
8: 110,718,316 (GRCm39) |
P67L |
probably damaging |
Het |
Tln2 |
A |
C |
9: 67,262,479 (GRCm39) |
S593A |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,685,607 (GRCm39) |
|
probably null |
Het |
Tppp3 |
G |
A |
8: 106,194,804 (GRCm39) |
A109V |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,220,361 (GRCm39) |
F2366S |
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,264,392 (GRCm39) |
Y155F |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,151,268 (GRCm39) |
T451A |
probably benign |
Het |
Ttc9 |
C |
A |
12: 81,678,423 (GRCm39) |
A82E |
probably damaging |
Het |
Ttll11 |
T |
A |
2: 35,834,886 (GRCm39) |
N180I |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,566,743 (GRCm39) |
N28050S |
possibly damaging |
Het |
Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Wnt3 |
G |
A |
11: 103,703,141 (GRCm39) |
C208Y |
probably damaging |
Het |
Zfp521 |
C |
A |
18: 13,978,325 (GRCm39) |
C696F |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,979,927 (GRCm39) |
D162G |
probably damaging |
Het |
Zfp869 |
A |
T |
8: 70,159,054 (GRCm39) |
H506Q |
probably damaging |
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 |
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 |
|
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'- AGTCCAGACCTTCTGTGGCACTTAG -3'
(R):5'- TGCGGATGCTTCTTCCAGACAATC -3'
Sequencing Primer
(F):5'- GTGGCACTTAGCTGCCATC -3'
(R):5'- CAGCTAGGAGACTTCACTGGTTC -3'
|
Posted On |
2013-05-23 |