Incidental Mutation 'R2191:Myo18a'
| ID |
238123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77709441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 138
(D138G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000168348]
[ENSMUST00000167856]
[ENSMUST00000169105]
[ENSMUST00000130305]
[ENSMUST00000130627]
[ENSMUST00000164334]
[ENSMUST00000172303]
[ENSMUST00000151373]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000645
AA Change: D469G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1183 |
1.53e-45 |
SMART |
|
IQ
|
1184 |
1206 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1219 |
1867 |
1.7e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092884
AA Change: D138G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: D138G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
68 |
851 |
4.16e-47 |
SMART |
|
IQ
|
852 |
874 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
888 |
1534 |
2e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092887
AA Change: D469G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1866 |
3e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100794
AA Change: D138G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: D138G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
68 |
847 |
1.45e-46 |
SMART |
|
IQ
|
848 |
870 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
884 |
1530 |
4.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102488
AA Change: D469G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1866 |
3e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108375
AA Change: D469G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1838 |
6.8e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108376
AA Change: D469G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: D469G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Blast:MYSc
|
1258 |
1387 |
1e-14 |
BLAST |
|
low complexity region
|
1396 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1743 |
1762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168348
AA Change: D517G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: D517G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
447 |
1230 |
4.16e-47 |
SMART |
|
IQ
|
1231 |
1253 |
1.11e-3 |
SMART |
|
Blast:MYSc
|
1306 |
1435 |
1e-14 |
BLAST |
|
low complexity region
|
1444 |
1455 |
N/A |
INTRINSIC |
|
low complexity region
|
1828 |
1847 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167856
AA Change: D76G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: D76G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
16 |
789 |
1.3e-32 |
SMART |
|
IQ
|
790 |
812 |
1.11e-3 |
SMART |
|
Blast:MYSc
|
865 |
994 |
1e-14 |
BLAST |
|
low complexity region
|
1003 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1406 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1569 |
1627 |
2.13e-5 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169105
AA Change: D481G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: D481G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
411 |
1194 |
4.16e-47 |
SMART |
|
IQ
|
1195 |
1217 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1230 |
1878 |
7.3e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130305
AA Change: D150G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: D150G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
80 |
863 |
4.16e-47 |
SMART |
|
IQ
|
864 |
886 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
902 |
1547 |
2.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130627
AA Change: D481G
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: D481G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
411 |
1194 |
4.16e-47 |
SMART |
|
IQ
|
1195 |
1217 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1230 |
1850 |
6.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164334
AA Change: D138G
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: D138G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
68 |
851 |
4.16e-47 |
SMART |
|
IQ
|
852 |
874 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
888 |
1505 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172303
AA Change: D150G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: D150G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
80 |
863 |
4.16e-47 |
SMART |
|
IQ
|
864 |
886 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
902 |
1547 |
2.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151373
|
| SMART Domains |
Protein: ENSMUSP00000123256
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
34 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
45 |
89 |
3e-19 |
BLAST |
|
low complexity region
|
90 |
105 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
115 |
134 |
4.34e-5 |
PROSPERO |
|
low complexity region
|
135 |
164 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
188 |
209 |
4.34e-5 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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 can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,218,576 (GRCm39) |
L736* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,796,266 (GRCm39) |
R926W |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
| Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,704 (GRCm39) |
Q475L |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
| Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,465 (GRCm39) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,756,528 (GRCm39) |
S700T |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
possibly damaging |
Het |
|
| Other mutations in Myo18a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Myo18a
|
APN |
11 |
77,738,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00753:Myo18a
|
APN |
11 |
77,715,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01137:Myo18a
|
APN |
11 |
77,718,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Myo18a
|
APN |
11 |
77,711,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Myo18a
|
APN |
11 |
77,755,558 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01728:Myo18a
|
APN |
11 |
77,668,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01780:Myo18a
|
APN |
11 |
77,741,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02286:Myo18a
|
APN |
11 |
77,668,811 (GRCm39) |
nonsense |
probably null |
|
|
IGL02350:Myo18a
|
APN |
11 |
77,741,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02357:Myo18a
|
APN |
11 |
77,741,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02420:Myo18a
|
APN |
11 |
77,709,519 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02643:Myo18a
|
APN |
11 |
77,668,998 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02667:Myo18a
|
APN |
11 |
77,748,678 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Myo18a
|
APN |
11 |
77,720,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Myo18a
|
APN |
11 |
77,755,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Myo18a
|
APN |
11 |
77,669,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Myo18a
|
APN |
11 |
77,732,844 (GRCm39) |
splice site |
probably benign |
|
|
IGL03410:Myo18a
|
APN |
11 |
77,738,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03050:Myo18a
|
UTSW |
11 |
77,709,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Myo18a
|
UTSW |
11 |
77,734,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0064:Myo18a
|
UTSW |
11 |
77,738,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Myo18a
|
UTSW |
11 |
77,738,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Myo18a
|
UTSW |
11 |
77,736,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Myo18a
|
UTSW |
11 |
77,720,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Myo18a
|
UTSW |
11 |
77,711,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Myo18a
|
UTSW |
11 |
77,741,632 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0513:Myo18a
|
UTSW |
11 |
77,702,420 (GRCm39) |
intron |
probably benign |
|
|
R0688:Myo18a
|
UTSW |
11 |
77,714,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Myo18a
|
UTSW |
11 |
77,738,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0790:Myo18a
|
UTSW |
11 |
77,731,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1099:Myo18a
|
UTSW |
11 |
77,709,727 (GRCm39) |
splice site |
probably null |
|
|
R1103:Myo18a
|
UTSW |
11 |
77,714,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Myo18a
|
UTSW |
11 |
77,748,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Myo18a
|
UTSW |
11 |
77,709,473 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1331:Myo18a
|
UTSW |
11 |
77,732,405 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1479:Myo18a
|
UTSW |
11 |
77,733,020 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1723:Myo18a
|
UTSW |
11 |
77,744,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1742:Myo18a
|
UTSW |
11 |
77,732,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1796:Myo18a
|
UTSW |
11 |
77,720,170 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1823:Myo18a
|
UTSW |
11 |
77,715,923 (GRCm39) |
splice site |
probably benign |
|
|
R1827:Myo18a
|
UTSW |
11 |
77,709,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2033:Myo18a
|
UTSW |
11 |
77,733,925 (GRCm39) |
splice site |
probably null |
|
|
R2043:Myo18a
|
UTSW |
11 |
77,714,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2105:Myo18a
|
UTSW |
11 |
77,741,060 (GRCm39) |
missense |
probably benign |
|
|
R2264:Myo18a
|
UTSW |
11 |
77,710,798 (GRCm39) |
splice site |
probably benign |
|
|
R2370:Myo18a
|
UTSW |
11 |
77,668,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3015:Myo18a
|
UTSW |
11 |
77,749,846 (GRCm39) |
intron |
probably benign |
|
|
R3433:Myo18a
|
UTSW |
11 |
77,708,870 (GRCm39) |
splice site |
probably null |
|
|
R3739:Myo18a
|
UTSW |
11 |
77,736,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Myo18a
|
UTSW |
11 |
77,668,292 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4056:Myo18a
|
UTSW |
11 |
77,702,839 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4163:Myo18a
|
UTSW |
11 |
77,720,534 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4184:Myo18a
|
UTSW |
11 |
77,748,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Myo18a
|
UTSW |
11 |
77,708,773 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4628:Myo18a
|
UTSW |
11 |
77,714,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Myo18a
|
UTSW |
11 |
77,708,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Myo18a
|
UTSW |
11 |
77,708,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Myo18a
|
UTSW |
11 |
77,668,511 (GRCm39) |
splice site |
probably null |
|
|
R4731:Myo18a
|
UTSW |
11 |
77,720,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4739:Myo18a
|
UTSW |
11 |
77,714,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Myo18a
|
UTSW |
11 |
77,750,062 (GRCm39) |
intron |
probably benign |
|
|
R4889:Myo18a
|
UTSW |
11 |
77,723,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Myo18a
|
UTSW |
11 |
77,736,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5172:Myo18a
|
UTSW |
11 |
77,714,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Myo18a
|
UTSW |
11 |
77,755,668 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5394:Myo18a
|
UTSW |
11 |
77,744,176 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5643:Myo18a
|
UTSW |
11 |
77,745,513 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5808:Myo18a
|
UTSW |
11 |
77,720,127 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5871:Myo18a
|
UTSW |
11 |
77,723,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Myo18a
|
UTSW |
11 |
77,709,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Myo18a
|
UTSW |
11 |
77,732,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6053:Myo18a
|
UTSW |
11 |
77,709,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Myo18a
|
UTSW |
11 |
77,711,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Myo18a
|
UTSW |
11 |
77,755,648 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6558:Myo18a
|
UTSW |
11 |
77,741,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6884:Myo18a
|
UTSW |
11 |
77,709,875 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6983:Myo18a
|
UTSW |
11 |
77,736,341 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6993:Myo18a
|
UTSW |
11 |
77,749,900 (GRCm39) |
intron |
probably benign |
|
|
R7071:Myo18a
|
UTSW |
11 |
77,714,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Myo18a
|
UTSW |
11 |
77,733,387 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7238:Myo18a
|
UTSW |
11 |
77,733,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7328:Myo18a
|
UTSW |
11 |
77,698,737 (GRCm39) |
missense |
|
|
|
R7527:Myo18a
|
UTSW |
11 |
77,734,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Myo18a
|
UTSW |
11 |
77,738,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Myo18a
|
UTSW |
11 |
77,750,246 (GRCm39) |
missense |
|
|
|
R7958:Myo18a
|
UTSW |
11 |
77,732,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Myo18a
|
UTSW |
11 |
77,736,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8168:Myo18a
|
UTSW |
11 |
77,711,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8318:Myo18a
|
UTSW |
11 |
77,714,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8685:Myo18a
|
UTSW |
11 |
77,745,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8778:Myo18a
|
UTSW |
11 |
77,714,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Myo18a
|
UTSW |
11 |
77,718,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Myo18a
|
UTSW |
11 |
77,668,899 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9186:Myo18a
|
UTSW |
11 |
77,749,847 (GRCm39) |
missense |
|
|
|
R9321:Myo18a
|
UTSW |
11 |
77,733,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9357:Myo18a
|
UTSW |
11 |
77,733,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Myo18a
|
UTSW |
11 |
77,709,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Myo18a
|
UTSW |
11 |
77,709,410 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9576:Myo18a
|
UTSW |
11 |
77,709,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Myo18a
|
UTSW |
11 |
77,709,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9698:Myo18a
|
UTSW |
11 |
77,720,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9743:Myo18a
|
UTSW |
11 |
77,723,304 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9777:Myo18a
|
UTSW |
11 |
77,733,080 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Y5407:Myo18a
|
UTSW |
11 |
77,668,641 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Myo18a
|
UTSW |
11 |
77,732,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Myo18a
|
UTSW |
11 |
77,744,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCGACAGAAGAGTCCAAGG -3'
(R):5'- AGAACACCTTGGTCCCACTG -3'
Sequencing Primer
(F):5'- ATCCTGTAGTCTTTAGTAGAGTTGAC -3'
(R):5'- ACTGGTACCCGCGATGGTAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation