Incidental Mutation 'R4812:Myo18b'
| ID |
369526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18b
|
| Ensembl Gene |
ENSMUSG00000072720 |
| Gene Name |
myosin XVIIIb |
| Synonyms |
4932408L24Rik, 4933411E19Rik |
| MMRRC Submission |
042431-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4812 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112836742-113044228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112957584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1460
(K1460E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086617]
|
| AlphaFold |
E9PV66 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086617
AA Change: K1460E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: K1460E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
419 |
N/A |
INTRINSIC |
|
MYSc
|
605 |
1374 |
8.78e-30 |
SMART |
|
IQ
|
1375 |
1397 |
5.92e-4 |
SMART |
|
Pfam:Myosin_tail_1
|
1423 |
1875 |
5e-12 |
PFAM |
|
low complexity region
|
1965 |
1985 |
N/A |
INTRINSIC |
|
coiled coil region
|
2052 |
2126 |
N/A |
INTRINSIC |
|
low complexity region
|
2184 |
2199 |
N/A |
INTRINSIC |
|
low complexity region
|
2325 |
2336 |
N/A |
INTRINSIC |
|
low complexity region
|
2408 |
2424 |
N/A |
INTRINSIC |
|
low complexity region
|
2544 |
2558 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183029
|
| Meta Mutation Damage Score |
0.0976 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (124/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 128 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
C |
T |
3: 40,575,633 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
T |
C |
11: 110,192,647 (GRCm39) |
D681G |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,808,329 (GRCm39) |
V884A |
probably damaging |
Het |
| Akr1c14 |
G |
A |
13: 4,129,165 (GRCm39) |
V187M |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,232 (GRCm39) |
N126K |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,677,799 (GRCm39) |
R12S |
unknown |
Het |
| Btrc |
G |
A |
19: 45,411,603 (GRCm39) |
C9Y |
possibly damaging |
Het |
| C5ar1 |
A |
C |
7: 15,982,258 (GRCm39) |
|
probably null |
Het |
| C8a |
C |
T |
4: 104,719,788 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
A |
G |
10: 75,482,428 (GRCm39) |
S2172P |
possibly damaging |
Het |
| Calcoco2 |
T |
C |
11: 95,998,276 (GRCm39) |
D49G |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,215,999 (GRCm39) |
D974N |
probably null |
Het |
| Car6 |
T |
C |
4: 150,281,872 (GRCm39) |
E47G |
probably damaging |
Het |
| Ccnd3 |
G |
A |
17: 47,908,505 (GRCm39) |
|
probably null |
Het |
| Celf5 |
A |
T |
10: 81,306,573 (GRCm39) |
V30E |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,425,368 (GRCm39) |
V776I |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,215,916 (GRCm39) |
D1513V |
probably damaging |
Het |
| Cinp |
T |
C |
12: 110,846,174 (GRCm39) |
Y84C |
probably damaging |
Het |
| Cnih1 |
A |
G |
14: 47,014,001 (GRCm39) |
I154T |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,262,479 (GRCm39) |
P511L |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,439,874 (GRCm39) |
V1364M |
unknown |
Het |
| Cplane1 |
T |
G |
15: 8,230,607 (GRCm39) |
|
probably null |
Het |
| Crtam |
A |
G |
9: 40,895,621 (GRCm39) |
L38P |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,372,530 (GRCm39) |
V495D |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,463,887 (GRCm39) |
Y606C |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
| Dctn1 |
A |
T |
6: 83,166,919 (GRCm39) |
M160L |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,687,166 (GRCm39) |
C366* |
probably null |
Het |
| Dnajc2 |
G |
A |
5: 21,968,484 (GRCm39) |
S401L |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,893,128 (GRCm39) |
I302V |
probably benign |
Het |
| Dvl2 |
T |
C |
11: 69,902,119 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
G |
13: 42,457,116 (GRCm39) |
S50A |
probably benign |
Het |
| Efhc1 |
A |
T |
1: 21,060,871 (GRCm39) |
R636W |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,399 (GRCm39) |
H1047Q |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,287 (GRCm39) |
V371G |
probably damaging |
Het |
| Fap |
T |
A |
2: 62,349,365 (GRCm39) |
I475F |
probably damaging |
Het |
| Fbxw15 |
T |
C |
9: 109,388,990 (GRCm39) |
I140V |
probably benign |
Het |
| Fer |
A |
G |
17: 64,241,292 (GRCm39) |
T311A |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,429,025 (GRCm39) |
W497R |
probably damaging |
Het |
| Flot2 |
T |
A |
11: 77,944,191 (GRCm39) |
L45Q |
probably damaging |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,089,390 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
G |
A |
7: 4,762,071 (GRCm39) |
T295M |
probably damaging |
Het |
| Ggta1 |
C |
T |
2: 35,292,735 (GRCm39) |
V203I |
probably benign |
Het |
| Gm19345 |
C |
T |
7: 19,591,798 (GRCm39) |
V204M |
probably damaging |
Het |
| Gm4204 |
T |
A |
1: 135,160,227 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6124 |
C |
G |
7: 38,872,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gprin3 |
T |
A |
6: 59,330,350 (GRCm39) |
K652N |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,653,346 (GRCm39) |
|
probably null |
Het |
| Hace1 |
C |
A |
10: 45,562,699 (GRCm39) |
A738E |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
| Hnrnpdl |
T |
C |
5: 100,184,331 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,298,418 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
G |
A |
3: 151,465,336 (GRCm39) |
A138V |
probably benign |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,829 (GRCm39) |
I41F |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,326,542 (GRCm39) |
D171E |
possibly damaging |
Het |
| Irag2 |
G |
A |
6: 145,093,737 (GRCm39) |
G120S |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,742,651 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,707,585 (GRCm39) |
V1716A |
possibly damaging |
Het |
| Krtap5-1 |
G |
A |
7: 141,850,628 (GRCm39) |
S60F |
unknown |
Het |
| Lama4 |
G |
A |
10: 38,948,765 (GRCm39) |
V843I |
probably benign |
Het |
| Laptm5 |
A |
G |
4: 130,640,749 (GRCm39) |
|
probably null |
Het |
| Lbhd1 |
G |
A |
19: 8,866,538 (GRCm39) |
A193T |
probably damaging |
Het |
| Lce3f |
C |
T |
3: 92,900,247 (GRCm39) |
P23S |
unknown |
Het |
| Mecom |
A |
C |
3: 30,194,517 (GRCm39) |
M1R |
probably null |
Het |
| Mindy4 |
A |
C |
6: 55,256,088 (GRCm39) |
T531P |
possibly damaging |
Het |
| Mrpl3 |
A |
G |
9: 104,951,023 (GRCm39) |
N263S |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,905,007 (GRCm39) |
Y852H |
probably damaging |
Het |
| Nefl |
T |
G |
14: 68,321,734 (GRCm39) |
V108G |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,681,053 (GRCm39) |
L1061* |
probably null |
Het |
| Nim1k |
T |
A |
13: 120,173,920 (GRCm39) |
M325L |
probably benign |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,143,131 (GRCm39) |
|
noncoding transcript |
Het |
| Npsr1 |
C |
T |
9: 24,201,252 (GRCm39) |
T59I |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,024,114 (GRCm39) |
T440A |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,556,035 (GRCm39) |
T1245I |
probably damaging |
Het |
| Nup88 |
T |
A |
11: 70,856,552 (GRCm39) |
T194S |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,899,212 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
T |
G |
18: 7,288,634 (GRCm39) |
T78P |
possibly damaging |
Het |
| Opn1sw |
A |
T |
6: 29,378,038 (GRCm39) |
M252K |
probably damaging |
Het |
| Oprm1 |
T |
G |
10: 6,782,698 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,087 (GRCm39) |
I220V |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,284 (GRCm39) |
I103K |
possibly damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,440 (GRCm39) |
M145K |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 37,072,861 (GRCm39) |
V164E |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,590,039 (GRCm39) |
T780A |
unknown |
Het |
| Pcnx2 |
T |
A |
8: 126,592,678 (GRCm39) |
Q762L |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,505,251 (GRCm39) |
|
probably benign |
Het |
| Pdpr |
A |
G |
8: 111,843,349 (GRCm39) |
N294D |
probably benign |
Het |
| Perm1 |
T |
A |
4: 156,303,193 (GRCm39) |
V579E |
possibly damaging |
Het |
| Pgk2 |
T |
A |
17: 40,518,281 (GRCm39) |
K382N |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,849,801 (GRCm39) |
L205Q |
probably damaging |
Het |
| Plekha3 |
C |
T |
2: 76,516,975 (GRCm39) |
T109I |
probably damaging |
Het |
| Pnn |
T |
A |
12: 59,118,404 (GRCm39) |
V329E |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,671,481 (GRCm39) |
I469M |
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,651,684 (GRCm39) |
V603A |
probably benign |
Het |
| Rbms1 |
C |
T |
2: 60,623,113 (GRCm39) |
V75I |
possibly damaging |
Het |
| Rbp3 |
T |
A |
14: 33,676,731 (GRCm39) |
D226E |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 73,713,176 (GRCm39) |
N1189K |
probably benign |
Het |
| Rragd |
A |
G |
4: 33,018,766 (GRCm39) |
T270A |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,557,889 (GRCm39) |
T530S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,742,581 (GRCm39) |
E479G |
probably damaging |
Het |
| Scd2 |
A |
T |
19: 44,289,841 (GRCm39) |
I279F |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,031,074 (GRCm39) |
D746V |
probably damaging |
Het |
| Shroom4 |
A |
G |
X: 6,536,180 (GRCm39) |
K1133E |
probably benign |
Het |
| Sirpb1c |
A |
G |
3: 15,887,386 (GRCm39) |
V151A |
probably damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,335,093 (GRCm39) |
I120N |
probably damaging |
Het |
| Slco1a1 |
A |
G |
6: 141,864,319 (GRCm39) |
S494P |
probably damaging |
Het |
| Srebf2 |
A |
T |
15: 82,088,026 (GRCm39) |
T1061S |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,444 (GRCm39) |
L4202P |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,060,939 (GRCm39) |
G215E |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 53,967,148 (GRCm39) |
V16A |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,585,050 (GRCm39) |
H262R |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,460,190 (GRCm39) |
I495T |
possibly damaging |
Het |
| Tipin |
A |
G |
9: 64,211,694 (GRCm39) |
H260R |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,063,591 (GRCm39) |
S221P |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,686,938 (GRCm39) |
L1101* |
probably null |
Het |
| Trim43b |
C |
T |
9: 88,973,533 (GRCm39) |
D67N |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,440,661 (GRCm39) |
C178S |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,307 (GRCm39) |
F74L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,756,144 (GRCm39) |
H72R |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,929,732 (GRCm39) |
V850I |
probably benign |
Het |
| Zan |
T |
G |
5: 137,454,547 (GRCm39) |
Y1419S |
unknown |
Het |
| Zbtb14 |
T |
A |
17: 69,694,577 (GRCm39) |
Y92N |
probably damaging |
Het |
| Zfand5 |
A |
G |
19: 21,255,101 (GRCm39) |
K116E |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,674,593 (GRCm39) |
E1881G |
possibly damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,924 (GRCm39) |
K268E |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,813,035 (GRCm39) |
I563V |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,106,334 (GRCm39) |
I767L |
probably benign |
Het |
|
| Other mutations in Myo18b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Myo18b
|
APN |
5 |
113,021,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00847:Myo18b
|
APN |
5 |
112,978,255 (GRCm39) |
splice site |
probably benign |
|
|
IGL00848:Myo18b
|
APN |
5 |
113,019,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00969:Myo18b
|
APN |
5 |
113,022,873 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01018:Myo18b
|
APN |
5 |
112,957,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Myo18b
|
APN |
5 |
112,959,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01490:Myo18b
|
APN |
5 |
112,957,566 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01556:Myo18b
|
APN |
5 |
112,905,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL01637:Myo18b
|
APN |
5 |
112,988,495 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01819:Myo18b
|
APN |
5 |
113,025,916 (GRCm39) |
missense |
unknown |
|
|
IGL02007:Myo18b
|
APN |
5 |
113,022,838 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02146:Myo18b
|
APN |
5 |
112,991,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Myo18b
|
APN |
5 |
113,025,976 (GRCm39) |
missense |
unknown |
|
|
IGL02319:Myo18b
|
APN |
5 |
112,939,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02398:Myo18b
|
APN |
5 |
112,978,178 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02420:Myo18b
|
APN |
5 |
112,975,852 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02626:Myo18b
|
APN |
5 |
113,025,951 (GRCm39) |
missense |
unknown |
|
|
IGL02815:Myo18b
|
APN |
5 |
112,957,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02822:Myo18b
|
APN |
5 |
112,923,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Myo18b
|
APN |
5 |
112,863,377 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02995:Myo18b
|
APN |
5 |
112,923,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL03019:Myo18b
|
APN |
5 |
112,840,263 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03039:Myo18b
|
APN |
5 |
112,988,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Myo18b
|
APN |
5 |
113,021,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03123:Myo18b
|
APN |
5 |
113,022,804 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03288:Myo18b
|
APN |
5 |
112,937,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Myo18b
|
APN |
5 |
113,022,345 (GRCm39) |
unclassified |
probably benign |
|
|
klippel
|
UTSW |
5 |
112,905,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4651001:Myo18b
|
UTSW |
5 |
112,982,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0271:Myo18b
|
UTSW |
5 |
112,957,551 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0277:Myo18b
|
UTSW |
5 |
112,841,213 (GRCm39) |
splice site |
probably benign |
|
|
R0352:Myo18b
|
UTSW |
5 |
113,022,389 (GRCm39) |
unclassified |
probably benign |
|
|
R0504:Myo18b
|
UTSW |
5 |
113,021,442 (GRCm39) |
unclassified |
probably benign |
|
|
R0539:Myo18b
|
UTSW |
5 |
112,871,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0599:Myo18b
|
UTSW |
5 |
113,013,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Myo18b
|
UTSW |
5 |
112,946,700 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0659:Myo18b
|
UTSW |
5 |
112,908,193 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0671:Myo18b
|
UTSW |
5 |
112,840,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0847:Myo18b
|
UTSW |
5 |
113,022,354 (GRCm39) |
unclassified |
probably benign |
|
|
R1082:Myo18b
|
UTSW |
5 |
112,908,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Myo18b
|
UTSW |
5 |
112,951,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Myo18b
|
UTSW |
5 |
112,978,185 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1280:Myo18b
|
UTSW |
5 |
112,871,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1444:Myo18b
|
UTSW |
5 |
112,923,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1446:Myo18b
|
UTSW |
5 |
112,905,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Myo18b
|
UTSW |
5 |
112,840,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Myo18b
|
UTSW |
5 |
112,840,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Myo18b
|
UTSW |
5 |
113,023,132 (GRCm39) |
nonsense |
probably null |
|
|
R1601:Myo18b
|
UTSW |
5 |
113,019,364 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1903:Myo18b
|
UTSW |
5 |
112,840,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Myo18b
|
UTSW |
5 |
112,908,222 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1936:Myo18b
|
UTSW |
5 |
112,908,222 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2008:Myo18b
|
UTSW |
5 |
113,021,423 (GRCm39) |
missense |
probably benign |
|
|
R2127:Myo18b
|
UTSW |
5 |
112,978,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Myo18b
|
UTSW |
5 |
112,978,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Myo18b
|
UTSW |
5 |
113,021,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2170:Myo18b
|
UTSW |
5 |
112,871,724 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2258:Myo18b
|
UTSW |
5 |
113,022,529 (GRCm39) |
unclassified |
probably benign |
|
|
R2265:Myo18b
|
UTSW |
5 |
112,930,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Myo18b
|
UTSW |
5 |
113,006,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2931:Myo18b
|
UTSW |
5 |
112,840,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3160:Myo18b
|
UTSW |
5 |
112,840,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3162:Myo18b
|
UTSW |
5 |
112,840,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3777:Myo18b
|
UTSW |
5 |
112,905,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4240:Myo18b
|
UTSW |
5 |
112,951,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4243:Myo18b
|
UTSW |
5 |
112,840,261 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4245:Myo18b
|
UTSW |
5 |
112,840,261 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4533:Myo18b
|
UTSW |
5 |
112,840,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Myo18b
|
UTSW |
5 |
112,994,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Myo18b
|
UTSW |
5 |
113,023,041 (GRCm39) |
unclassified |
probably benign |
|
|
R4755:Myo18b
|
UTSW |
5 |
113,022,340 (GRCm39) |
nonsense |
probably null |
|
|
R4771:Myo18b
|
UTSW |
5 |
112,840,093 (GRCm39) |
nonsense |
probably null |
|
|
R4840:Myo18b
|
UTSW |
5 |
113,021,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4888:Myo18b
|
UTSW |
5 |
113,022,346 (GRCm39) |
unclassified |
probably benign |
|
|
R4995:Myo18b
|
UTSW |
5 |
112,908,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5001:Myo18b
|
UTSW |
5 |
112,909,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5015:Myo18b
|
UTSW |
5 |
112,937,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Myo18b
|
UTSW |
5 |
113,023,083 (GRCm39) |
unclassified |
probably benign |
|
|
R5070:Myo18b
|
UTSW |
5 |
112,909,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Myo18b
|
UTSW |
5 |
112,988,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Myo18b
|
UTSW |
5 |
113,022,346 (GRCm39) |
unclassified |
probably benign |
|
|
R5130:Myo18b
|
UTSW |
5 |
113,021,769 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5186:Myo18b
|
UTSW |
5 |
113,019,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Myo18b
|
UTSW |
5 |
112,905,439 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5535:Myo18b
|
UTSW |
5 |
112,937,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Myo18b
|
UTSW |
5 |
113,016,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5810:Myo18b
|
UTSW |
5 |
112,982,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Myo18b
|
UTSW |
5 |
112,950,196 (GRCm39) |
splice site |
probably null |
|
|
R6065:Myo18b
|
UTSW |
5 |
112,840,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Myo18b
|
UTSW |
5 |
113,022,157 (GRCm39) |
unclassified |
probably benign |
|
|
R6113:Myo18b
|
UTSW |
5 |
113,014,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Myo18b
|
UTSW |
5 |
113,022,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6167:Myo18b
|
UTSW |
5 |
113,020,373 (GRCm39) |
splice site |
probably null |
|
|
R6220:Myo18b
|
UTSW |
5 |
112,905,373 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6276:Myo18b
|
UTSW |
5 |
112,959,508 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6290:Myo18b
|
UTSW |
5 |
113,013,601 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6291:Myo18b
|
UTSW |
5 |
113,013,601 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6795:Myo18b
|
UTSW |
5 |
112,994,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6798:Myo18b
|
UTSW |
5 |
112,909,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6817:Myo18b
|
UTSW |
5 |
112,978,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6937:Myo18b
|
UTSW |
5 |
112,950,258 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7034:Myo18b
|
UTSW |
5 |
112,871,770 (GRCm39) |
nonsense |
probably null |
|
|
R7097:Myo18b
|
UTSW |
5 |
113,022,271 (GRCm39) |
missense |
unknown |
|
|
R7145:Myo18b
|
UTSW |
5 |
112,965,545 (GRCm39) |
nonsense |
probably null |
|
|
R7201:Myo18b
|
UTSW |
5 |
112,863,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Myo18b
|
UTSW |
5 |
112,923,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7265:Myo18b
|
UTSW |
5 |
112,959,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Myo18b
|
UTSW |
5 |
113,021,971 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7466:Myo18b
|
UTSW |
5 |
112,871,758 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7487:Myo18b
|
UTSW |
5 |
112,982,299 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7571:Myo18b
|
UTSW |
5 |
112,978,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Myo18b
|
UTSW |
5 |
113,025,969 (GRCm39) |
missense |
unknown |
|
|
R7612:Myo18b
|
UTSW |
5 |
113,013,168 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7617:Myo18b
|
UTSW |
5 |
112,905,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7696:Myo18b
|
UTSW |
5 |
112,840,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Myo18b
|
UTSW |
5 |
113,022,891 (GRCm39) |
missense |
unknown |
|
|
R8047:Myo18b
|
UTSW |
5 |
112,871,681 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8070:Myo18b
|
UTSW |
5 |
112,938,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8088:Myo18b
|
UTSW |
5 |
113,027,376 (GRCm39) |
start gained |
probably benign |
|
|
R8247:Myo18b
|
UTSW |
5 |
112,840,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Myo18b
|
UTSW |
5 |
112,943,273 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8313:Myo18b
|
UTSW |
5 |
113,023,045 (GRCm39) |
missense |
unknown |
|
|
R8375:Myo18b
|
UTSW |
5 |
112,908,259 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8432:Myo18b
|
UTSW |
5 |
112,912,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8475:Myo18b
|
UTSW |
5 |
113,021,422 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Myo18b
|
UTSW |
5 |
113,019,489 (GRCm39) |
nonsense |
probably null |
|
|
R8671:Myo18b
|
UTSW |
5 |
113,022,609 (GRCm39) |
missense |
unknown |
|
|
R8681:Myo18b
|
UTSW |
5 |
113,021,429 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8918:Myo18b
|
UTSW |
5 |
113,022,873 (GRCm39) |
unclassified |
probably benign |
|
|
R8941:Myo18b
|
UTSW |
5 |
113,022,795 (GRCm39) |
unclassified |
probably benign |
|
|
R8962:Myo18b
|
UTSW |
5 |
113,006,346 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8972:Myo18b
|
UTSW |
5 |
112,841,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9116:Myo18b
|
UTSW |
5 |
112,975,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Myo18b
|
UTSW |
5 |
113,022,927 (GRCm39) |
missense |
unknown |
|
|
R9358:Myo18b
|
UTSW |
5 |
112,943,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9469:Myo18b
|
UTSW |
5 |
112,994,247 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9607:Myo18b
|
UTSW |
5 |
113,022,544 (GRCm39) |
missense |
unknown |
|
|
R9659:Myo18b
|
UTSW |
5 |
113,022,382 (GRCm39) |
missense |
unknown |
|
|
Z1088:Myo18b
|
UTSW |
5 |
112,905,350 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Myo18b
|
UTSW |
5 |
112,840,809 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Myo18b
|
UTSW |
5 |
112,979,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Myo18b
|
UTSW |
5 |
112,957,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Myo18b
|
UTSW |
5 |
112,910,587 (GRCm39) |
missense |
not run |
|
|
Z1177:Myo18b
|
UTSW |
5 |
113,021,407 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Myo18b
|
UTSW |
5 |
112,910,587 (GRCm39) |
missense |
not run |
|
|
Z1177:Myo18b
|
UTSW |
5 |
112,840,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Myo18b
|
UTSW |
5 |
113,023,018 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTTGTGGCTTACGCAG -3'
(R):5'- ACTTTCAGGGAGCATGGAGTG -3'
Sequencing Primer
(F):5'- TTACGCAGGGAGGGAACTTCTC -3'
(R):5'- ATGGAGTGCAAGGCGTCC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation