Incidental Mutation 'R1468:Myo5b'
| ID |
197776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5b
|
| Ensembl Gene |
ENSMUSG00000025885 |
| Gene Name |
myosin VB |
| Synonyms |
|
| MMRRC Submission |
039521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R1468 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74575435-74905769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74873574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1467
(V1467L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073790
(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: V1467L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: V1467L
| 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 |
probably damaging
Transcript: ENSMUST00000121875
AA Change: V1493L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: V1493L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154986
|
| Meta Mutation Damage Score |
0.1271 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.1%
|
| Validation Efficiency |
98% (106/108) |
| 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: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
G |
7: 12,246,507 (GRCm39) |
M1R |
probably null |
Het |
| 4933440N22Rik |
C |
A |
6: 117,884,540 (GRCm39) |
|
probably benign |
Het |
| 5031439G07Rik |
G |
T |
15: 84,837,345 (GRCm39) |
P280T |
probably damaging |
Het |
| Abca2 |
C |
T |
2: 25,331,308 (GRCm39) |
S1267L |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,684,126 (GRCm39) |
R719S |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,657,839 (GRCm39) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,070,851 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,407,227 (GRCm39) |
|
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,544 (GRCm39) |
E89G |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,525,752 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ankrd65 |
G |
A |
4: 155,877,362 (GRCm39) |
R291Q |
probably benign |
Het |
| Ano2 |
C |
T |
6: 125,773,227 (GRCm39) |
R287W |
probably damaging |
Het |
| Ap1ar |
A |
G |
3: 127,606,215 (GRCm39) |
I125T |
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,293,197 (GRCm39) |
D705G |
probably damaging |
Het |
| Asb18 |
T |
A |
1: 89,924,005 (GRCm39) |
N86I |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,135,519 (GRCm39) |
S564T |
probably benign |
Het |
| Bpifa6 |
A |
G |
2: 153,831,192 (GRCm39) |
M253V |
probably benign |
Het |
| Braf |
T |
C |
6: 39,642,017 (GRCm39) |
D194G |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,777,700 (GRCm39) |
P716T |
probably benign |
Het |
| C7 |
T |
A |
15: 5,041,631 (GRCm39) |
Y425F |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,632,714 (GRCm39) |
K421R |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,120,388 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
T |
2: 132,634,720 (GRCm39) |
M221L |
probably benign |
Het |
| Chst14 |
A |
G |
2: 118,758,145 (GRCm39) |
Y313C |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,331,152 (GRCm39) |
|
probably null |
Het |
| Clec12b |
A |
T |
6: 129,357,603 (GRCm39) |
I85N |
probably damaging |
Het |
| Clec2e |
G |
T |
6: 129,070,459 (GRCm39) |
Y187* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,767,804 (GRCm39) |
K229E |
probably benign |
Het |
| Ctdspl2 |
A |
T |
2: 121,811,762 (GRCm39) |
Q201L |
probably benign |
Het |
| Ctrb1 |
G |
T |
8: 112,416,041 (GRCm39) |
|
probably benign |
Het |
| Cyp2c55 |
T |
A |
19: 38,999,525 (GRCm39) |
V77E |
probably damaging |
Het |
| Cyp2c69 |
A |
C |
19: 39,837,839 (GRCm39) |
D414E |
probably damaging |
Het |
| Ddx47 |
T |
C |
6: 134,988,703 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,661,640 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
A |
15: 28,230,609 (GRCm39) |
S169* |
probably null |
Het |
| Dock4 |
C |
A |
12: 40,805,809 (GRCm39) |
T927K |
probably benign |
Het |
| Esrp2 |
T |
G |
8: 106,860,453 (GRCm39) |
D259A |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,255,038 (GRCm39) |
K418R |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,146,067 (GRCm39) |
I597F |
probably damaging |
Het |
| Fastkd2 |
G |
T |
1: 63,771,385 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,463,582 (GRCm39) |
V1375M |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,753,464 (GRCm39) |
D486V |
probably damaging |
Het |
| Fech |
C |
T |
18: 64,603,744 (GRCm39) |
|
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Foxp1 |
T |
A |
6: 98,955,181 (GRCm39) |
H195L |
possibly damaging |
Het |
| Gfra1 |
T |
A |
19: 58,440,407 (GRCm39) |
I138L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,806,501 (GRCm39) |
D230G |
possibly damaging |
Het |
| Gm14403 |
T |
A |
2: 177,199,024 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
A |
C |
2: 57,245,786 (GRCm39) |
T439P |
probably damaging |
Het |
| Gpm6a |
A |
T |
8: 55,490,385 (GRCm39) |
K20N |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hectd4 |
A |
T |
5: 121,487,235 (GRCm39) |
D3410V |
possibly damaging |
Het |
| Il17b |
G |
A |
18: 61,823,483 (GRCm39) |
|
probably null |
Het |
| Irx4 |
G |
T |
13: 73,413,695 (GRCm39) |
R55L |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,596,245 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,574,164 (GRCm39) |
V582A |
probably benign |
Het |
| Ldhd |
G |
T |
8: 112,353,925 (GRCm39) |
A425E |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,817,841 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,670,191 (GRCm39) |
T638A |
possibly damaging |
Het |
| Lrrk1 |
A |
C |
7: 65,909,722 (GRCm39) |
F1996C |
probably damaging |
Het |
| Ly6h |
G |
A |
15: 75,437,986 (GRCm39) |
S21L |
probably benign |
Het |
| Mctp1 |
T |
C |
13: 76,973,392 (GRCm39) |
V431A |
probably benign |
Het |
| Metap2 |
C |
T |
10: 93,707,345 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
T |
A |
12: 4,920,536 (GRCm39) |
K94* |
probably null |
Het |
| Micall2 |
A |
G |
5: 139,705,097 (GRCm39) |
L79P |
probably damaging |
Het |
| Mucl2 |
T |
C |
15: 103,927,673 (GRCm39) |
T95A |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
| Nfic |
G |
T |
10: 81,256,414 (GRCm39) |
D105E |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,873,865 (GRCm39) |
F227Y |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,777,458 (GRCm39) |
I88F |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,530,887 (GRCm39) |
H515L |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,202,917 (GRCm39) |
|
probably null |
Het |
| Oas1g |
G |
A |
5: 121,020,069 (GRCm39) |
T179I |
probably benign |
Het |
| Ogfr |
A |
T |
2: 180,236,543 (GRCm39) |
E376V |
probably damaging |
Het |
| Or2l13 |
T |
G |
16: 19,306,378 (GRCm39) |
S263R |
probably benign |
Het |
| Or4a69 |
A |
T |
2: 89,312,855 (GRCm39) |
V208D |
possibly damaging |
Het |
| Or4c107 |
T |
G |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
| Or52d1 |
G |
T |
7: 103,755,896 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or5p6 |
C |
T |
7: 107,631,595 (GRCm39) |
|
probably null |
Het |
| Pard3b |
T |
C |
1: 62,384,188 (GRCm39) |
V851A |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,142 (GRCm39) |
Y34F |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,290,825 (GRCm39) |
Y1215H |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,565 (GRCm39) |
V1516E |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,763,344 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,190,767 (GRCm38) |
I818F |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,304,173 (GRCm39) |
E644G |
possibly damaging |
Het |
| Rbm45 |
A |
G |
2: 76,202,459 (GRCm39) |
I127M |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,220 (GRCm39) |
Y157C |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,564,771 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,006 (GRCm39) |
Y329N |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,239,646 (GRCm39) |
|
probably null |
Het |
| Shkbp1 |
A |
T |
7: 27,044,751 (GRCm39) |
C447S |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,021,685 (GRCm39) |
S689P |
possibly damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,970,656 (GRCm39) |
S332P |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,596,823 (GRCm39) |
C1092F |
probably damaging |
Het |
| Slx9 |
A |
G |
10: 77,333,360 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,533,678 (GRCm39) |
I619V |
possibly damaging |
Het |
| Sycp3 |
T |
C |
10: 88,305,454 (GRCm39) |
V185A |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,382 (GRCm39) |
N17K |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,039,814 (GRCm39) |
E102G |
probably damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,834 (GRCm39) |
N248D |
probably benign |
Het |
| Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
| Tnpo1 |
C |
T |
13: 98,986,665 (GRCm39) |
V781I |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,520,761 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,721,463 (GRCm39) |
K984R |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,391,171 (GRCm39) |
E2263G |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,596,847 (GRCm39) |
K875E |
probably damaging |
Het |
| Vapb |
C |
T |
2: 173,603,905 (GRCm39) |
|
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,038 (GRCm39) |
I211V |
possibly damaging |
Het |
| Vmn2r81 |
G |
A |
10: 79,129,496 (GRCm39) |
V796I |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,073,027 (GRCm39) |
V856D |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,235,571 (GRCm39) |
T615S |
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 |
|
|
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 |
|
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'- TCCTTGTTCAAGCCCTGTGAGGAG -3'
(R):5'- ATCTTAGCGGGCAGACAGGCTTTC -3'
Sequencing Primer
(F):5'- GAGTAGATTCCTAGATGAGCCAC -3'
(R):5'- GGCATCCCAGATAACTGGCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation