Incidental Mutation 'R5643:Myo18a'
| ID |
440877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
043291-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5643 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77745513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1619
(D1619E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000130627]
[ENSMUST00000164334]
[ENSMUST00000172303]
[ENSMUST00000130305]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000167856]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000645
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
| 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 benign
Transcript: ENSMUST00000092884
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
| 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: ENSMUST00000100794
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
| 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: D1950E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: D1950E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
| 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 |
unknown
Transcript: ENSMUST00000135375
AA Change: D12E
|
| SMART Domains |
Protein: ENSMUSP00000117044
Gene: ENSMUSG00000000631
AA Change: D12E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130627
AA Change: D1962E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: D1962E
| 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: D1619E
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: D1619E
| 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 |
noncoding transcript
Transcript: ENSMUST00000130956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172303
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
| 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: ENSMUST00000130305
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
| 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: ENSMUST00000168348
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
| 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 benign
Transcript: ENSMUST00000169105
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
| 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 benign
Transcript: ENSMUST00000167856
|
| SMART Domains |
Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
| 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 |
|
| Meta Mutation Damage Score |
0.0865 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (110/117) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,988,021 (GRCm39) |
K3102E |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,351,902 (GRCm39) |
|
probably null |
Het |
| Akp3 |
A |
T |
1: 87,055,485 (GRCm39) |
T511S |
unknown |
Het |
| Alkal2 |
T |
A |
12: 30,934,889 (GRCm39) |
L36Q |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,218 (GRCm39) |
V523E |
probably damaging |
Het |
| Asah1 |
G |
T |
8: 41,813,332 (GRCm39) |
T27K |
possibly damaging |
Het |
| Bag2 |
A |
G |
1: 33,786,034 (GRCm39) |
V96A |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,961,391 (GRCm39) |
I189M |
probably benign |
Het |
| Calcr |
A |
G |
6: 3,708,538 (GRCm39) |
I216T |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,184,970 (GRCm39) |
D1160V |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 91,315,625 (GRCm39) |
I87K |
probably damaging |
Het |
| Cep170b |
C |
G |
12: 112,707,275 (GRCm39) |
H1256Q |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,232 (GRCm39) |
V705E |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,356,923 (GRCm39) |
I172L |
probably benign |
Het |
| Cobl |
A |
T |
11: 12,256,948 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,429,202 (GRCm39) |
D972V |
probably damaging |
Het |
| Csrp1 |
A |
T |
1: 135,678,797 (GRCm39) |
N174I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,444,866 (GRCm39) |
H3946L |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,001 (GRCm39) |
D133E |
probably benign |
Het |
| Dvl3 |
T |
A |
16: 20,345,026 (GRCm39) |
I353N |
probably damaging |
Het |
| Elavl3 |
A |
T |
9: 21,930,029 (GRCm39) |
S292T |
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,498,923 (GRCm39) |
N52S |
probably damaging |
Het |
| Gaa |
T |
A |
11: 119,171,361 (GRCm39) |
M671K |
possibly damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,423,032 (GRCm39) |
D222G |
possibly damaging |
Het |
| Gk5 |
C |
T |
9: 96,022,709 (GRCm39) |
Q182* |
probably null |
Het |
| Gm14403 |
A |
T |
2: 177,199,054 (GRCm39) |
H50L |
possibly damaging |
Het |
| Gzma |
T |
C |
13: 113,234,794 (GRCm39) |
T66A |
probably damaging |
Het |
| Hint2 |
T |
C |
4: 43,656,445 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
A |
T |
2: 23,904,251 (GRCm39) |
W137R |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,048,402 (GRCm39) |
V90A |
probably benign |
Het |
| Idua |
A |
T |
5: 108,828,090 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
A |
C |
1: 92,983,489 (GRCm39) |
S669R |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,271,862 (GRCm39) |
M915L |
possibly damaging |
Het |
| Klhl41 |
A |
G |
2: 69,500,815 (GRCm39) |
Y92C |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,420 (GRCm39) |
C186S |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,051,301 (GRCm39) |
M484V |
probably benign |
Het |
| Lzts1 |
A |
G |
8: 69,591,729 (GRCm39) |
S140P |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,864,226 (GRCm39) |
V464E |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,944,305 (GRCm39) |
D298E |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,347,452 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
T |
A |
14: 103,524,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,984,973 (GRCm39) |
W366R |
probably null |
Het |
| Nipbl |
C |
T |
15: 8,388,391 (GRCm39) |
V410I |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,323 (GRCm39) |
I68F |
probably benign |
Het |
| Or4c101 |
T |
A |
2: 88,389,849 (GRCm39) |
M1K |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,091 (GRCm39) |
I175V |
probably benign |
Het |
| Or5b95 |
A |
T |
19: 12,658,336 (GRCm39) |
Y288F |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,388,853 (GRCm39) |
M231K |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,503 (GRCm39) |
N206S |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,936,871 (GRCm39) |
T1527S |
probably damaging |
Het |
| P2ry12 |
A |
T |
3: 59,125,516 (GRCm39) |
M53K |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,265,065 (GRCm39) |
|
probably null |
Het |
| Pcca |
G |
A |
14: 123,124,481 (GRCm39) |
C684Y |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,219 (GRCm39) |
T432A |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,166,039 (GRCm39) |
N630D |
probably damaging |
Het |
| Plbd2 |
A |
T |
5: 120,631,231 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
T |
C |
4: 152,188,797 (GRCm39) |
V200A |
probably benign |
Het |
| Pola2 |
A |
G |
19: 6,011,198 (GRCm39) |
V42A |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,097 (GRCm39) |
W572R |
probably damaging |
Het |
| Ppp6r1 |
C |
T |
7: 4,636,771 (GRCm39) |
E679K |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,622,337 (GRCm39) |
H339Q |
probably damaging |
Het |
| Prdx3 |
G |
A |
19: 60,859,963 (GRCm39) |
A70V |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,577,717 (GRCm39) |
F57L |
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,171 (GRCm39) |
T324A |
possibly damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,120,604 (GRCm39) |
F267L |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,593,137 (GRCm39) |
H169L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,701,700 (GRCm39) |
H1360R |
probably damaging |
Het |
| Rfc3 |
C |
T |
5: 151,573,444 (GRCm39) |
V40I |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,577,590 (GRCm39) |
T219S |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,576,338 (GRCm39) |
R289G |
possibly damaging |
Het |
| Senp7 |
T |
C |
16: 56,004,512 (GRCm39) |
|
silent |
Het |
| Sfmbt2 |
A |
T |
2: 10,573,184 (GRCm39) |
I571F |
probably damaging |
Het |
| Slc11a2 |
C |
A |
15: 100,301,068 (GRCm39) |
K328N |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,387,202 (GRCm39) |
|
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,207,488 (GRCm39) |
*433W |
probably null |
Het |
| Slco1a5 |
A |
C |
6: 142,183,320 (GRCm39) |
|
probably null |
Het |
| Smc6 |
T |
A |
12: 11,339,995 (GRCm39) |
N434K |
probably benign |
Het |
| Syndig1 |
A |
T |
2: 149,741,428 (GRCm39) |
I5F |
possibly damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,018 (GRCm39) |
Q124R |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,344,785 (GRCm39) |
M171L |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,560,709 (GRCm39) |
D389G |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,619,707 (GRCm39) |
R107C |
possibly damaging |
Het |
| Tex14 |
C |
A |
11: 87,426,452 (GRCm39) |
H1159Q |
probably damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,474,388 (GRCm39) |
M190L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,768,867 (GRCm39) |
T2856S |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,171,998 (GRCm39) |
M2997K |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,383,886 (GRCm39) |
A88V |
probably damaging |
Het |
| Use1 |
T |
C |
8: 71,820,398 (GRCm39) |
|
probably benign |
Het |
| Vmn1r43 |
T |
C |
6: 89,847,354 (GRCm39) |
N44S |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,954,146 (GRCm39) |
V294D |
possibly damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,194,869 (GRCm39) |
V819E |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,977 (GRCm39) |
M271L |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,059 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,151 (GRCm39) |
R519* |
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,404 (GRCm39) |
D578V |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,343 (GRCm39) |
Y132C |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,720,170 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
A |
T |
9: 22,194,467 (GRCm39) |
S74T |
probably benign |
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 |
|
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'- AACCTTGCTCCTTTGGGATGAG -3'
(R):5'- AGGACAGTCAGCAGTGTTAGC -3'
Sequencing Primer
(F):5'- CAGTGAATGAGGCCTGGTTC -3'
(R):5'- CAGTCAGCAGTGTTAGCATGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation