Incidental Mutation 'R5004:Myo5b'
| ID |
390121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo5b
|
| Ensembl Gene |
ENSMUSG00000025885 |
| Gene Name |
myosin VB |
| Synonyms |
|
| MMRRC Submission |
042597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
R5004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
74575435-74905769 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 74877844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074157]
[ENSMUST00000121875]
[ENSMUST00000121875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074157
|
| SMART Domains |
Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
| 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 null
Transcript: ENSMUST00000121875
|
| SMART Domains |
Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
| 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 |
probably null
Transcript: ENSMUST00000121875
|
| SMART Domains |
Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
A |
C |
8: 13,605,927 (GRCm39) |
D189E |
possibly damaging |
Het |
| Abca5 |
C |
T |
11: 110,170,202 (GRCm39) |
E1298K |
probably damaging |
Het |
| Actg1 |
C |
A |
11: 120,238,986 (GRCm39) |
|
probably benign |
Het |
| Add2 |
A |
G |
6: 86,073,728 (GRCm39) |
T206A |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,212,330 (GRCm39) |
V116A |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,307,800 (GRCm39) |
D346E |
probably damaging |
Het |
| Arfgap3 |
T |
A |
15: 83,194,497 (GRCm39) |
S391C |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Cars2 |
C |
T |
8: 11,568,956 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
G |
6: 112,436,885 (GRCm39) |
K38R |
probably damaging |
Het |
| Ccdc159 |
G |
A |
9: 21,844,241 (GRCm39) |
R101H |
probably damaging |
Het |
| Cops7b |
A |
G |
1: 86,515,132 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
C |
T |
4: 115,295,310 (GRCm39) |
T472I |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,458,238 (GRCm39) |
S23P |
probably damaging |
Het |
| Cyp4f13 |
T |
G |
17: 33,144,760 (GRCm39) |
I275L |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,025,222 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
T |
10: 63,222,486 (GRCm39) |
I4L |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,010 (GRCm39) |
D739V |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,234,100 (GRCm39) |
Y124C |
probably damaging |
Het |
| Fbln5 |
T |
A |
12: 101,727,080 (GRCm39) |
N303I |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,160,399 (GRCm39) |
E352G |
probably benign |
Het |
| Fhad1 |
T |
G |
4: 141,729,910 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,063,577 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,789 (GRCm39) |
T79M |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,357,069 (GRCm39) |
Q1872R |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,709,837 (GRCm39) |
H336R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr15lg |
A |
T |
14: 36,824,622 (GRCm39) |
C60S |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,340,996 (GRCm39) |
C346F |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,466,262 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,467,628 (GRCm39) |
P2526S |
possibly damaging |
Het |
| Il3ra |
A |
T |
14: 14,355,381 (GRCm38) |
E289D |
probably benign |
Het |
| Itih4 |
T |
G |
14: 30,614,629 (GRCm39) |
L497R |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,124,383 (GRCm39) |
K91* |
probably null |
Het |
| Kiz |
C |
G |
2: 146,811,899 (GRCm39) |
D669E |
possibly damaging |
Het |
| Klhl30 |
T |
A |
1: 91,287,046 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
A |
7: 139,512,792 (GRCm39) |
C1514* |
probably null |
Het |
| Lipo2 |
A |
G |
19: 33,699,076 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,279,268 (GRCm39) |
D5921G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,478,537 (GRCm39) |
Y394H |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 76,789,923 (GRCm39) |
S50R |
possibly damaging |
Het |
| Mllt10 |
T |
C |
2: 18,175,079 (GRCm39) |
Y3H |
probably damaging |
Het |
| Mon1b |
T |
C |
8: 114,365,859 (GRCm39) |
S396P |
probably damaging |
Het |
| Mrgpra4 |
A |
C |
7: 47,631,535 (GRCm39) |
L22R |
probably benign |
Het |
| Msln |
T |
G |
17: 25,973,193 (GRCm39) |
M1L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,952,411 (GRCm39) |
I827N |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,209,140 (GRCm39) |
D1866G |
probably damaging |
Het |
| Nlrc5 |
T |
G |
8: 95,247,844 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,472 (GRCm39) |
R1082* |
probably null |
Het |
| Or12k7 |
A |
G |
2: 36,958,422 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4f4b |
G |
A |
2: 111,314,005 (GRCm39) |
V105I |
possibly damaging |
Het |
| Or5p63 |
T |
A |
7: 107,811,323 (GRCm39) |
K138* |
probably null |
Het |
| Or7e169 |
T |
C |
9: 19,757,398 (GRCm39) |
I172M |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,195,033 (GRCm39) |
C122S |
probably damaging |
Het |
| Pkd2l1 |
G |
T |
19: 44,138,016 (GRCm39) |
A690E |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,380,706 (GRCm39) |
Q439R |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,393,736 (GRCm39) |
D312E |
probably benign |
Het |
| Prrc2a |
T |
A |
17: 35,368,974 (GRCm39) |
N2021Y |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,350,836 (GRCm39) |
Y218C |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,414,837 (GRCm39) |
T350A |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,667 (GRCm38) |
I1235F |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,462,059 (GRCm39) |
D1181E |
possibly damaging |
Het |
| Rcc2 |
T |
A |
4: 140,444,977 (GRCm39) |
S415T |
possibly damaging |
Het |
| Ripor1 |
CAA |
CA |
8: 106,345,452 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
C |
14: 55,829,639 (GRCm39) |
L68P |
probably damaging |
Het |
| Rsph6a |
A |
T |
7: 18,791,665 (GRCm39) |
E278V |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,269,617 (GRCm39) |
Q92* |
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,491,777 (GRCm39) |
R580G |
probably benign |
Het |
| Sec31a |
A |
T |
5: 100,516,192 (GRCm39) |
N967K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,866,093 (GRCm39) |
T154N |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,770,040 (GRCm39) |
I219F |
possibly damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,334,338 (GRCm39) |
S235T |
probably benign |
Het |
| Setd4 |
G |
T |
16: 93,388,133 (GRCm39) |
H118N |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,911,789 (GRCm39) |
V1697M |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,915,331 (GRCm39) |
L1420Q |
possibly damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,546 (GRCm39) |
H402Q |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,633 (GRCm39) |
V666D |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,578,413 (GRCm39) |
S1704R |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,936,806 (GRCm39) |
W100R |
possibly damaging |
Het |
| Steap1 |
G |
T |
5: 5,792,829 (GRCm39) |
Y27* |
probably null |
Het |
| Svep1 |
G |
T |
4: 58,087,751 (GRCm39) |
T1776K |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,440 (GRCm39) |
T115S |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,193,140 (GRCm39) |
H431Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,611,872 (GRCm39) |
V170G |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,630 (GRCm39) |
L99P |
probably damaging |
Het |
| Trim11 |
C |
A |
11: 58,872,164 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,755,264 (GRCm39) |
K955R |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,452,146 (GRCm39) |
T371I |
probably damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,884 (GRCm39) |
M13I |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,965,158 (GRCm39) |
M334V |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,414,586 (GRCm39) |
Y2843C |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,135 (GRCm39) |
I2674N |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,368,246 (GRCm39) |
T249P |
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,247,848 (GRCm39) |
F772I |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,821,932 (GRCm39) |
E584D |
probably benign |
Het |
| Zbtb22 |
G |
T |
17: 34,136,217 (GRCm39) |
A121S |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,673 (GRCm39) |
H267L |
probably damaging |
Het |
| Zkscan2 |
C |
T |
7: 123,089,267 (GRCm39) |
V335M |
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 |
|
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 |
|
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'- AGAAGGTTATTCACGCACGCC -3'
(R):5'- TAAGGAAAGCCACCTCACTCTG -3'
Sequencing Primer
(F):5'- GGTTATTCACGCACGCCTTTCC -3'
(R):5'- TCACTCTGCTGGCGTCGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation