Incidental Mutation 'R4739:Myo18a'
| ID |
359539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
042025-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77714149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 748
(Y748H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000167856]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000172303]
[ENSMUST00000130305]
[ENSMUST00000164334]
[ENSMUST00000130627]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000645
AA Change: Y701H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: Y701H
| 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: Y369H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: Y369H
| 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 damaging
Transcript: ENSMUST00000092887
AA Change: Y700H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: Y700H
| 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: Y365H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: Y365H
| 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 damaging
Transcript: ENSMUST00000102488
AA Change: Y700H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: Y700H
| 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: ENSMUST00000108375
AA Change: Y700H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: Y700H
| 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 damaging
Transcript: ENSMUST00000108376
AA Change: Y700H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: Y700H
| 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: ENSMUST00000167856
AA Change: Y307H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: Y307H
| 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 damaging
Transcript: ENSMUST00000168348
AA Change: Y748H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: Y748H
| 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: ENSMUST00000169105
AA Change: Y712H
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: Y712H
| 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: Y387H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: Y387H
| 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 damaging
Transcript: ENSMUST00000130305
AA Change: Y381H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: Y381H
| 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 damaging
Transcript: ENSMUST00000164334
AA Change: Y369H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: Y369H
| 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: ENSMUST00000130627
AA Change: Y712H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: Y712H
| 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 |
noncoding transcript
Transcript: ENSMUST00000154892
|
| Meta Mutation Damage Score |
0.0937 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
96% (102/106) |
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
C |
T |
1: 158,796,904 (GRCm39) |
|
noncoding transcript |
Het |
| 2300002M23Rik |
A |
G |
17: 35,878,403 (GRCm39) |
|
probably benign |
Het |
| Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
| Abcc5 |
T |
A |
16: 20,218,376 (GRCm39) |
D283V |
probably damaging |
Het |
| Abraxas1 |
T |
A |
5: 100,959,886 (GRCm39) |
K155N |
probably damaging |
Het |
| Acot3 |
T |
C |
12: 84,105,364 (GRCm39) |
I277T |
probably benign |
Het |
| Ankrd45 |
G |
A |
1: 160,982,960 (GRCm39) |
C157Y |
probably damaging |
Het |
| Apol10a |
C |
T |
15: 77,372,841 (GRCm39) |
T159I |
possibly damaging |
Het |
| Arhgef11 |
G |
A |
3: 87,605,306 (GRCm39) |
V214M |
possibly damaging |
Het |
| Ash1l |
A |
C |
3: 88,890,152 (GRCm39) |
N677T |
probably benign |
Het |
| Atg13 |
A |
G |
2: 91,515,040 (GRCm39) |
S254P |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,946,385 (GRCm39) |
L129P |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,703,294 (GRCm39) |
V120D |
probably damaging |
Het |
| Castor1 |
A |
G |
11: 4,169,004 (GRCm39) |
E57G |
possibly damaging |
Het |
| Cc2d1b |
T |
C |
4: 108,485,239 (GRCm39) |
V527A |
probably benign |
Het |
| Ccnl1 |
A |
G |
3: 65,854,092 (GRCm39) |
|
probably benign |
Het |
| Cenpl |
T |
A |
1: 160,910,837 (GRCm39) |
D261E |
probably damaging |
Het |
| Cep192 |
T |
G |
18: 67,984,803 (GRCm39) |
I1604M |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,706,560 (GRCm39) |
I573V |
probably benign |
Het |
| Cfap100 |
A |
G |
6: 90,389,825 (GRCm39) |
|
probably null |
Het |
| Ciao3 |
A |
T |
17: 26,000,283 (GRCm39) |
H322L |
probably damaging |
Het |
| Cmc1 |
T |
A |
9: 117,904,245 (GRCm39) |
M49L |
probably benign |
Het |
| Cyfip2 |
G |
T |
11: 46,170,820 (GRCm39) |
N176K |
probably damaging |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,430 (GRCm39) |
F408L |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,172,971 (GRCm39) |
S399F |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,281,339 (GRCm39) |
L528Q |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,105,658 (GRCm39) |
V1138A |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,583,375 (GRCm39) |
L119Q |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,677,169 (GRCm39) |
D444G |
possibly damaging |
Het |
| Dsg1c |
A |
T |
18: 20,408,246 (GRCm39) |
N432Y |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,230,228 (GRCm39) |
I2785N |
probably benign |
Het |
| Dynap |
A |
T |
18: 70,374,296 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,910,510 (GRCm39) |
L1330P |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,555,146 (GRCm39) |
C67S |
probably null |
Het |
| Enpp5 |
C |
T |
17: 44,392,027 (GRCm39) |
T152I |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,383,059 (GRCm39) |
M313V |
probably damaging |
Het |
| Erc2 |
T |
G |
14: 27,498,838 (GRCm39) |
L238R |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,448,698 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,476,199 (GRCm39) |
F339L |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,805,697 (GRCm39) |
D672A |
possibly damaging |
Het |
| Gap43 |
G |
T |
16: 42,112,581 (GRCm39) |
P60Q |
probably benign |
Het |
| Gpr37l1 |
T |
A |
1: 135,094,783 (GRCm39) |
I154F |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,746,329 (GRCm39) |
S1314P |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,486,505 (GRCm39) |
M3167L |
probably benign |
Het |
| Hps3 |
C |
T |
3: 20,084,574 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,436,013 (GRCm39) |
C178R |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,297,384 (GRCm39) |
|
probably benign |
Het |
| Impdh2-ps |
A |
G |
8: 100,757,839 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
T |
A |
7: 44,120,678 (GRCm39) |
N138K |
probably damaging |
Het |
| Mtmr6 |
T |
G |
14: 60,529,546 (GRCm39) |
M315R |
probably damaging |
Het |
| Mtrf1 |
G |
A |
14: 79,650,520 (GRCm39) |
V323M |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,551,545 (GRCm39) |
N853I |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,610,452 (GRCm39) |
T272P |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,747,819 (GRCm39) |
D43N |
probably damaging |
Het |
| Or2ag1b |
C |
A |
7: 106,288,351 (GRCm39) |
E196* |
probably null |
Het |
| Or2b6 |
T |
A |
13: 21,823,340 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or2y17 |
G |
A |
11: 49,232,148 (GRCm39) |
G263D |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,378 (GRCm39) |
I304N |
probably damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,017 (GRCm39) |
T318I |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,234 (GRCm39) |
Y269H |
possibly damaging |
Het |
| Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
| Pappa2 |
T |
G |
1: 158,784,572 (GRCm39) |
D146A |
probably damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,304,353 (GRCm39) |
G496R |
probably damaging |
Het |
| Pes1 |
A |
G |
11: 3,914,058 (GRCm39) |
K8E |
probably damaging |
Het |
| Phlpp2 |
G |
A |
8: 110,667,052 (GRCm39) |
G1194S |
probably damaging |
Het |
| Pkn1 |
A |
C |
8: 84,398,378 (GRCm39) |
V763G |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,048,588 (GRCm39) |
A331E |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,507,023 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
A |
T |
6: 89,309,657 (GRCm39) |
|
probably null |
Het |
| Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,779,864 (GRCm39) |
*490W |
probably null |
Het |
| Prl2c1 |
T |
C |
13: 28,041,661 (GRCm39) |
C228R |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,438,591 (GRCm39) |
S85G |
probably benign |
Het |
| Rfc3 |
A |
C |
5: 151,568,241 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,309,732 (GRCm39) |
N362S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,650,932 (GRCm39) |
D904E |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,583,627 (GRCm39) |
M1663V |
probably benign |
Het |
| Slc13a3 |
A |
T |
2: 165,272,209 (GRCm39) |
I278N |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,745,923 (GRCm39) |
E278G |
probably damaging |
Het |
| Snrnp48 |
T |
A |
13: 38,393,893 (GRCm39) |
M66K |
probably damaging |
Het |
| Styk1 |
T |
G |
6: 131,277,429 (GRCm39) |
E404A |
probably damaging |
Het |
| Synj1 |
T |
A |
16: 90,752,307 (GRCm39) |
H1016L |
probably benign |
Het |
| Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
| Tjp2 |
T |
C |
19: 24,097,475 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
G |
2: 120,190,518 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
G |
15: 72,808,909 (GRCm39) |
Y718S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ugt2a3 |
C |
T |
5: 87,475,054 (GRCm39) |
G397R |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,019,139 (GRCm39) |
M454K |
probably benign |
Het |
| Wdtc1 |
G |
T |
4: 133,029,110 (GRCm39) |
N325K |
possibly damaging |
Het |
| Whrn |
T |
C |
4: 63,336,402 (GRCm39) |
H720R |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,349,609 (GRCm39) |
D3268V |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,959,573 (GRCm39) |
H793Q |
probably damaging |
Het |
| Zfp518b |
C |
T |
5: 38,831,841 (GRCm39) |
A55T |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,647,249 (GRCm39) |
T901M |
probably 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 |
|
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'- TGTCTTTTGCCTCCGGAAGATG -3'
(R):5'- TAGGACATTAGTTGGCATCCCAC -3'
Sequencing Primer
(F):5'- GCCTCCGGAAGATGCCAATTC -3'
(R):5'- AGGATGGCCACAAGTCCCAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation