Incidental Mutation 'R8098:Myo18a'
| ID |
630339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
067530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8098 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77736227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1508
(D1508V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000168348]
[ENSMUST00000130305]
[ENSMUST00000130627]
[ENSMUST00000164334]
[ENSMUST00000167856]
[ENSMUST00000169105]
[ENSMUST00000172303]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000645
AA Change: D1461V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: D1461V
| 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: D1129V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: D1129V
| 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 |
possibly damaging
Transcript: ENSMUST00000092887
AA Change: D1460V
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: D1460V
| 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: D1125V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: D1125V
| 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 |
possibly damaging
Transcript: ENSMUST00000102488
AA Change: D1460V
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: D1460V
| 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: ENSMUST00000108375
AA Change: D1460V
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: D1460V
| 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 |
possibly damaging
Transcript: ENSMUST00000108376
AA Change: D1460V
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: D1460V
| 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 |
probably damaging
Transcript: ENSMUST00000168348
AA Change: D1508V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: D1508V
| 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 |
probably damaging
Transcript: ENSMUST00000130305
AA Change: D1141V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: D1141V
| 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 |
possibly damaging
Transcript: ENSMUST00000130627
AA Change: D1472V
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: D1472V
| 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 |
possibly damaging
Transcript: ENSMUST00000164334
AA Change: D1129V
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: D1129V
| 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 |
possibly damaging
Transcript: ENSMUST00000167856
AA Change: D1067V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: D1067V
| 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: D1472V
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: D1472V
| 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: ENSMUST00000172303
AA Change: D1147V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: D1147V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,384,618 (GRCm39) |
L449P |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,960,619 (GRCm39) |
S694G |
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,646,089 (GRCm39) |
L800P |
probably damaging |
Het |
| Adam15 |
T |
A |
3: 89,251,193 (GRCm39) |
D504V |
probably damaging |
Het |
| Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,362 (GRCm39) |
D675G |
|
Het |
| Atp13a3 |
A |
C |
16: 30,173,115 (GRCm39) |
V254G |
possibly damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,365 (GRCm39) |
I749T |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,673,965 (GRCm39) |
Y369* |
probably null |
Het |
| Bms1 |
C |
T |
6: 118,361,219 (GRCm39) |
R1204H |
probably damaging |
Het |
| Btla |
T |
A |
16: 45,064,612 (GRCm39) |
L188* |
probably null |
Het |
| Btn2a2 |
A |
G |
13: 23,666,058 (GRCm39) |
V258A |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,307,338 (GRCm39) |
H1782R |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,624,759 (GRCm39) |
D172G |
probably benign |
Het |
| Ccdc192 |
A |
T |
18: 57,800,403 (GRCm39) |
I185L |
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Ckap4 |
A |
G |
10: 84,369,499 (GRCm39) |
S78P |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,731,383 (GRCm39) |
D1623E |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,785,763 (GRCm39) |
T411A |
unknown |
Het |
| Cpt1a |
A |
C |
19: 3,420,849 (GRCm39) |
I436L |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,004,242 (GRCm39) |
I173F |
probably benign |
Het |
| Dcun1d2 |
T |
C |
8: 13,311,396 (GRCm39) |
T198A |
probably benign |
Het |
| Ddx50 |
A |
C |
10: 62,460,922 (GRCm39) |
|
probably null |
Het |
| Depdc1b |
A |
G |
13: 108,460,593 (GRCm39) |
T68A |
probably damaging |
Het |
| Dgkq |
G |
A |
5: 108,800,334 (GRCm39) |
R546W |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,710,188 (GRCm39) |
W1493* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,941,193 (GRCm39) |
S3219P |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,484,486 (GRCm39) |
Y986F |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,841,117 (GRCm39) |
M1805K |
unknown |
Het |
| Exoc3 |
A |
G |
13: 74,320,271 (GRCm39) |
M730T |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,825,716 (GRCm39) |
M129L |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,450 (GRCm39) |
S336P |
possibly damaging |
Het |
| Gins4 |
T |
A |
8: 23,727,037 (GRCm39) |
M19L |
probably benign |
Het |
| Gm3238 |
T |
C |
10: 77,606,474 (GRCm39) |
N229S |
unknown |
Het |
| Gpd2 |
T |
A |
2: 57,180,020 (GRCm39) |
V89D |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,459,461 (GRCm39) |
V777I |
possibly damaging |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,779 (GRCm39) |
S169P |
probably benign |
Het |
| Igfbp3 |
T |
C |
11: 7,160,104 (GRCm39) |
D183G |
possibly damaging |
Het |
| Il16 |
A |
G |
7: 83,295,767 (GRCm39) |
V1134A |
probably damaging |
Het |
| Kcnn4 |
A |
G |
7: 24,083,504 (GRCm39) |
D395G |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,968,780 (GRCm39) |
N354S |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,410,324 (GRCm39) |
R1474Q |
possibly damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,888 (GRCm39) |
Q424R |
probably damaging |
Het |
| Mkx |
A |
C |
18: 6,992,784 (GRCm39) |
S167A |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,979 (GRCm39) |
F193S |
possibly damaging |
Het |
| Nek4 |
T |
A |
14: 30,685,908 (GRCm39) |
N273K |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,179,709 (GRCm39) |
V403D |
possibly damaging |
Het |
| Nlrp6 |
G |
A |
7: 140,503,168 (GRCm39) |
V425M |
probably damaging |
Het |
| Or13p4 |
A |
T |
4: 118,547,406 (GRCm39) |
V81E |
possibly damaging |
Het |
| Or14j6 |
A |
G |
17: 38,215,250 (GRCm39) |
D271G |
probably damaging |
Het |
| Or4c122 |
T |
A |
2: 89,079,652 (GRCm39) |
M117L |
possibly damaging |
Het |
| Or9k2 |
T |
C |
10: 129,998,916 (GRCm39) |
K93R |
probably benign |
Het |
| Otub1 |
A |
T |
19: 7,181,794 (GRCm39) |
D27E |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,495,040 (GRCm39) |
D1607G |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,071,178 (GRCm39) |
Y16C |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,230,892 (GRCm39) |
M262L |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rnf10 |
A |
C |
5: 115,389,438 (GRCm39) |
I243S |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,375,549 (GRCm39) |
I571V |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,289 (GRCm39) |
G183D |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,857,028 (GRCm39) |
V426A |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,051,041 (GRCm39) |
L566P |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,642,619 (GRCm39) |
|
probably null |
Het |
| Snx11 |
G |
T |
11: 96,661,500 (GRCm39) |
S168R |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,097,482 (GRCm39) |
N218D |
probably benign |
Het |
| Snx7 |
A |
T |
3: 117,632,583 (GRCm39) |
D169E |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,274,180 (GRCm39) |
L77P |
probably damaging |
Het |
| Sucnr1 |
T |
A |
3: 59,994,162 (GRCm39) |
V230E |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,265,282 (GRCm39) |
K753E |
probably benign |
Het |
| Tango6 |
T |
G |
8: 107,468,990 (GRCm39) |
L829V |
possibly damaging |
Het |
| Tek |
T |
C |
4: 94,715,907 (GRCm39) |
V443A |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,714,859 (GRCm39) |
L312Q |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,947,991 (GRCm39) |
N269K |
probably damaging |
Het |
| Thrb |
A |
T |
14: 18,008,645 (GRCm38) |
D168V |
probably damaging |
Het |
| Tk2 |
C |
T |
8: 104,957,804 (GRCm39) |
V181I |
probably benign |
Het |
| Tm6sf2 |
T |
C |
8: 70,526,972 (GRCm39) |
L47P |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,415,078 (GRCm39) |
M291K |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,790 (GRCm39) |
E318G |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,641,756 (GRCm39) |
V451A |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,252 (GRCm39) |
D44E |
probably benign |
Het |
| Usp17la |
G |
T |
7: 104,510,138 (GRCm39) |
V248L |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,588,810 (GRCm39) |
I2453S |
probably benign |
Het |
| Wdr91 |
A |
T |
6: 34,863,817 (GRCm39) |
I566N |
possibly damaging |
Het |
| Zfp282 |
A |
G |
6: 47,867,652 (GRCm39) |
D276G |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp866 |
T |
C |
8: 70,218,628 (GRCm39) |
K331E |
probably benign |
Het |
| Zkscan17 |
A |
T |
11: 59,394,410 (GRCm39) |
W64R |
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 |
|
|
R2191:Myo18a
|
UTSW |
11 |
77,709,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGTCCAATTCCGTGTCAGCAG -3'
(R):5'- CAAGGAAACCACCTTCTGGG -3'
Sequencing Primer
(F):5'- GGGCCCCAAGTTATAACCTCG -3'
(R):5'- CCAAGTCTTTTTCCTAGAGAGAGAGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation