Incidental Mutation 'R1929:Myo5b'
| ID |
215230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5b
|
| Ensembl Gene |
ENSMUSG00000025885 |
| Gene Name |
myosin VB |
| Synonyms |
|
| MMRRC Submission |
039947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R1929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74575435-74905769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74866996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1382
(L1382F)
|
| 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: L1382F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: L1382F
| 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: L1408F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: L1408F
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (107/109) |
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,376,860 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
C |
12: 86,749,093 (GRCm39) |
L656V |
probably damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,293,681 (GRCm39) |
S584L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,464,958 (GRCm39) |
N679Y |
probably benign |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,900,401 (GRCm39) |
S611C |
probably damaging |
Het |
| Bnip3 |
T |
G |
7: 138,496,359 (GRCm39) |
|
silent |
Het |
| Btc |
T |
C |
5: 91,510,260 (GRCm39) |
Y111C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Ccdc83 |
C |
T |
7: 89,873,285 (GRCm39) |
V357I |
probably damaging |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,050 (GRCm39) |
D324G |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,208,451 (GRCm39) |
T216A |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,059 (GRCm39) |
E230G |
probably benign |
Het |
| Chst11 |
T |
C |
10: 83,027,004 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
| Cyp27b1 |
T |
A |
10: 126,884,181 (GRCm39) |
V11D |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Des |
T |
G |
1: 75,340,137 (GRCm39) |
M348R |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,238,165 (GRCm39) |
D109V |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,574,352 (GRCm39) |
I2136F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,867,224 (GRCm39) |
S2785G |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,376,471 (GRCm39) |
V235G |
probably damaging |
Het |
| Dtx3l |
A |
T |
16: 35,754,059 (GRCm39) |
D182E |
possibly damaging |
Het |
| Efcab6 |
A |
G |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,870,015 (GRCm39) |
S27T |
probably benign |
Het |
| Emsy |
T |
G |
7: 98,275,830 (GRCm39) |
K352N |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,238,047 (GRCm39) |
N814S |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,868 (GRCm39) |
V574A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,212 (GRCm39) |
E469G |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably damaging |
Het |
| Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,260,449 (GRCm39) |
N902D |
unknown |
Het |
| Focad |
A |
G |
4: 88,315,416 (GRCm39) |
S1525G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,815,296 (GRCm39) |
W1338R |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10076 |
T |
G |
14: 105,919,304 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5698 |
T |
G |
1: 31,017,042 (GRCm39) |
D3A |
probably damaging |
Het |
| Gngt2 |
C |
T |
11: 95,735,972 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,562,193 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
T |
5: 124,740,262 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,253,677 (GRCm39) |
T35A |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,180 (GRCm39) |
S679G |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk16 |
A |
G |
14: 20,315,347 (GRCm39) |
V72A |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Matr3 |
T |
A |
18: 35,721,378 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
G |
5: 118,866,898 (GRCm39) |
F651V |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,764,740 (GRCm39) |
V388A |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,299,794 (GRCm39) |
V1747I |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,535,936 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,263,366 (GRCm39) |
I154T |
probably benign |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Ntrk3 |
A |
C |
7: 78,166,471 (GRCm39) |
|
probably null |
Het |
| Or1e1c |
T |
A |
11: 73,266,427 (GRCm39) |
V287E |
probably damaging |
Het |
| Or4a15 |
A |
G |
2: 89,193,353 (GRCm39) |
V140A |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,206,859 (GRCm39) |
E523G |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,774,399 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,786,197 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,651,956 (GRCm39) |
K378N |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,931,776 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,595 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
A |
G |
4: 62,620,384 (GRCm39) |
I537V |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,033,893 (GRCm39) |
D444A |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,190,956 (GRCm39) |
S314P |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,500,302 (GRCm39) |
C565* |
probably null |
Het |
| Samd3 |
A |
G |
10: 26,139,884 (GRCm39) |
|
probably benign |
Het |
| Sec61a2 |
A |
G |
2: 5,878,547 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
G |
A |
12: 104,355,581 (GRCm39) |
A83T |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,756 (GRCm39) |
I251L |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,863,758 (GRCm39) |
T439I |
probably damaging |
Het |
| Shc1 |
G |
A |
3: 89,330,849 (GRCm39) |
G91S |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
| Specc1l |
C |
T |
10: 75,081,438 (GRCm39) |
S278F |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,688 (GRCm39) |
V2044M |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Suclg2 |
T |
C |
6: 95,566,075 (GRCm39) |
|
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,681 (GRCm39) |
H158L |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,851,352 (GRCm39) |
V966A |
possibly damaging |
Het |
| Tram1l1 |
T |
A |
3: 124,115,635 (GRCm39) |
I265N |
probably damaging |
Het |
| Trim58 |
T |
A |
11: 58,531,493 (GRCm39) |
F67Y |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,172,650 (GRCm39) |
Q74R |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,124 (GRCm39) |
Y115C |
possibly damaging |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,821,274 (GRCm39) |
F151L |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,822,937 (GRCm39) |
P99S |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,040,777 (GRCm39) |
Y58H |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,819,748 (GRCm39) |
V1069A |
probably benign |
Het |
| Zfp938 |
C |
T |
10: 82,061,381 (GRCm39) |
G413D |
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 |
|
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 |
|
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'- TTATTGCTGGCAGAATGAACTCTG -3'
(R):5'- CTGCCAGCAGCTAAATTCTCC -3'
Sequencing Primer
(F):5'- GCAGAATGAACTCTGACTTGTCGC -3'
(R):5'- GCAGCTAAATTCTCCCATGACATG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation