Incidental Mutation 'R7238:Myo18a'
| ID |
563013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
045345-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77733059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 1363
(R1363K)
|
| 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 |
probably damaging
Transcript: ENSMUST00000000645
AA Change: R1316K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: R1316K
| 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: R984K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: R984K
| 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: R1315K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: R1315K
| 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 damaging
Transcript: ENSMUST00000100794
AA Change: R980K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: R980K
| 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: R1315K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: R1315K
| 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: R1315K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: R1315K
| 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: R1315K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: R1315K
| 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: R1363K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: R1363K
| 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: ENSMUST00000130305
AA Change: R996K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: R996K
| 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: R1327K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: R1327K
| 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 damaging
Transcript: ENSMUST00000164334
AA Change: R984K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: R984K
| 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: R922K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: R922K
| 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 |
probably benign
Transcript: ENSMUST00000169105
AA Change: R1327K
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: R1327K
| 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 |
possibly damaging
Transcript: ENSMUST00000172303
AA Change: R1002K
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: R1002K
| 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 |
|
| Meta Mutation Damage Score |
0.2007 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (104/107) |
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,775,712 (GRCm39) |
T1634S |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,665,693 (GRCm39) |
M1460K |
probably damaging |
Het |
| Adig |
T |
A |
2: 158,347,773 (GRCm39) |
L29Q |
unknown |
Het |
| Adnp |
T |
G |
2: 168,025,887 (GRCm39) |
K469N |
probably damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,727,519 (GRCm39) |
Y379F |
probably damaging |
Het |
| Ankrd34b |
T |
C |
13: 92,575,139 (GRCm39) |
Y124H |
possibly damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,223,948 (GRCm39) |
F221C |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,469,160 (GRCm39) |
I358V |
possibly damaging |
Het |
| BC051665 |
G |
A |
13: 60,930,536 (GRCm39) |
T272I |
probably benign |
Het |
| Cdan1 |
G |
T |
2: 120,560,783 (GRCm39) |
A262E |
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,904,763 (GRCm39) |
V326I |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,254,873 (GRCm39) |
R156G |
probably benign |
Het |
| Clip1 |
C |
T |
5: 123,751,328 (GRCm39) |
E818K |
|
Het |
| Col6a4 |
C |
T |
9: 105,877,519 (GRCm39) |
V2153M |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,947,351 (GRCm39) |
N296D |
possibly damaging |
Het |
| Cstdc6 |
C |
T |
16: 36,142,193 (GRCm39) |
G61D |
probably benign |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,594 (GRCm39) |
I109V |
probably benign |
Het |
| Dcaf5 |
G |
T |
12: 80,385,483 (GRCm39) |
T881K |
probably benign |
Het |
| Dennd4a |
C |
A |
9: 64,769,238 (GRCm39) |
T408K |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnah2 |
A |
G |
11: 69,349,972 (GRCm39) |
|
probably null |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,006 (GRCm39) |
K114* |
probably null |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,760 (GRCm39) |
V273I |
probably benign |
Het |
| Elac1 |
C |
T |
18: 73,872,359 (GRCm39) |
G212D |
probably damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,013,798 (GRCm39) |
D623G |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,716,413 (GRCm39) |
F177L |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,944,562 (GRCm39) |
T1152A |
probably benign |
Het |
| Fbxl12 |
G |
T |
9: 20,529,709 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,151,971 (GRCm39) |
Y582C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,812,484 (GRCm39) |
N2934K |
possibly damaging |
Het |
| Gna12 |
A |
G |
5: 140,815,847 (GRCm39) |
S69P |
probably damaging |
Het |
| Gpatch8 |
C |
A |
11: 102,369,354 (GRCm39) |
G1395C |
probably damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,148 (GRCm39) |
Y294C |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,724,673 (GRCm39) |
S1834P |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,757,249 (GRCm39) |
D404G |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,478 (GRCm39) |
N236I |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,713,641 (GRCm39) |
V562I |
probably benign |
Het |
| Hipk2 |
G |
T |
6: 38,692,992 (GRCm39) |
T867N |
probably benign |
Het |
| Hmgcl |
T |
C |
4: 135,689,424 (GRCm39) |
V294A |
possibly damaging |
Het |
| Hnrnpl |
T |
A |
7: 28,513,400 (GRCm39) |
F158I |
|
Het |
| Hspa5 |
T |
C |
2: 34,662,383 (GRCm39) |
V17A |
unknown |
Het |
| Hspg2 |
T |
C |
4: 137,235,704 (GRCm39) |
V168A |
probably damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,284 (GRCm39) |
F227S |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,355 (GRCm39) |
S297G |
possibly damaging |
Het |
| Immp2l |
T |
C |
12: 41,160,915 (GRCm39) |
V71A |
possibly damaging |
Het |
| Iqce |
G |
A |
5: 140,675,713 (GRCm39) |
R193* |
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,472,526 (GRCm39) |
D907G |
probably benign |
Het |
| Krt17 |
T |
A |
11: 100,148,613 (GRCm39) |
T306S |
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,093,009 (GRCm39) |
D149G |
probably damaging |
Het |
| Lrrc73 |
G |
A |
17: 46,565,488 (GRCm39) |
R73H |
probably damaging |
Het |
| Mgat5b |
T |
C |
11: 116,875,809 (GRCm39) |
S678P |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,502,305 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
G |
15: 73,663,278 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,363,254 (GRCm39) |
H2188Q |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Musk |
G |
A |
4: 58,344,312 (GRCm39) |
G305D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,249,496 (GRCm39) |
I347T |
unknown |
Het |
| Mybbp1a |
G |
T |
11: 72,334,338 (GRCm39) |
V198F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,733 (GRCm39) |
S2943P |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,185 (GRCm39) |
D364V |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,799 (GRCm39) |
H174R |
probably damaging |
Het |
| Or14j6 |
T |
C |
17: 38,215,328 (GRCm39) |
L297S |
probably benign |
Het |
| Or1e26 |
A |
T |
11: 73,480,561 (GRCm39) |
M1K |
probably null |
Het |
| Or1j13 |
T |
A |
2: 36,369,726 (GRCm39) |
N139Y |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,252 (GRCm39) |
E110D |
probably damaging |
Het |
| Pecr |
T |
C |
1: 72,298,592 (GRCm39) |
D276G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1cb |
A |
T |
5: 32,648,376 (GRCm39) |
T320S |
probably benign |
Het |
| Ppp1r9a |
G |
T |
6: 5,159,716 (GRCm39) |
K1084N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,862,391 (GRCm39) |
S300P |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,602,090 (GRCm39) |
V389I |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,266,127 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
A |
G |
6: 124,698,821 (GRCm39) |
S498P |
possibly damaging |
Het |
| Pus3 |
A |
G |
9: 35,477,965 (GRCm39) |
H399R |
probably benign |
Het |
| Pus7 |
T |
C |
5: 23,983,450 (GRCm39) |
T6A |
probably benign |
Het |
| Rnf169 |
A |
G |
7: 99,574,954 (GRCm39) |
V547A |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,794,807 (GRCm39) |
D1194N |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,320,610 (GRCm39) |
M1490V |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,973,427 (GRCm39) |
M39K |
probably benign |
Het |
| Septin8 |
T |
G |
11: 53,427,519 (GRCm39) |
V246G |
possibly damaging |
Het |
| Serpina3k |
T |
A |
12: 104,309,367 (GRCm39) |
N270K |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,091 (GRCm39) |
R710H |
probably damaging |
Het |
| Sirt4 |
A |
T |
5: 115,621,049 (GRCm39) |
I41N |
possibly damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,686,556 (GRCm39) |
Y425* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,662,773 (GRCm39) |
E176G |
probably benign |
Het |
| Speer1m |
T |
C |
5: 11,970,712 (GRCm39) |
I127T |
|
Het |
| Spidr |
A |
T |
16: 15,784,680 (GRCm39) |
W463R |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmcc1 |
G |
A |
6: 116,111,198 (GRCm39) |
Q28* |
probably null |
Het |
| Tmem52b |
A |
G |
6: 129,493,651 (GRCm39) |
E88G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,974,710 (GRCm39) |
I402K |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,469,522 (GRCm39) |
Y504H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,542,549 (GRCm39) |
E33479G |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Urb1 |
T |
C |
16: 90,549,003 (GRCm39) |
D2235G |
possibly damaging |
Het |
| Usp10 |
T |
C |
8: 120,668,283 (GRCm39) |
F195L |
probably benign |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,858 (GRCm39) |
F2L |
|
Het |
| Vmn2r109 |
C |
T |
17: 20,761,336 (GRCm39) |
V674M |
probably damaging |
Het |
| Vmn2r12 |
G |
A |
5: 109,245,655 (GRCm39) |
P26S |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,629 (GRCm39) |
M414K |
possibly damaging |
Het |
| Yipf3 |
T |
C |
17: 46,562,585 (GRCm39) |
V330A |
probably benign |
Het |
| Zic4 |
A |
T |
9: 91,261,450 (GRCm39) |
H235L |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,346,642 (GRCm39) |
W16R |
unknown |
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 |
|
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'- TGAGTCAGTCCAGTCACCAG -3'
(R):5'- CTACCTAGTGTCCTAAACCAGAGGC -3'
Sequencing Primer
(F):5'- AGACAGACTGGCCCACTG -3'
(R):5'- GGCCACACTCTTACCCCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation