Incidental Mutation 'R4701:Myo18a'
| ID |
356060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
041949-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4701 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77708491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 30
(T30M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000164334]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000130627]
[ENSMUST00000130305]
[ENSMUST00000172303]
[ENSMUST00000151373]
[ENSMUST00000167856]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000645
AA Change: T349M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: T349M
| 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: T18M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: T18M
| 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: T349M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: T349M
| 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: T18M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: T18M
| 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: T349M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: T349M
| 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: T349M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: T349M
| 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: T349M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: T349M
| 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: ENSMUST00000164334
AA Change: T18M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: T18M
| 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: ENSMUST00000168348
AA Change: T397M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: T397M
| 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: ENSMUST00000169105
AA Change: T361M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: T361M
| 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: ENSMUST00000130627
AA Change: T361M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: T361M
| 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: ENSMUST00000130305
AA Change: T30M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: T30M
| 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: ENSMUST00000172303
AA Change: T30M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: T30M
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
80 |
863 |
4.16e-47 |
SMART |
|
IQ
|
864 |
886 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
902 |
1547 |
2.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151373
|
| SMART Domains |
Protein: ENSMUSP00000123256
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
34 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
45 |
89 |
3e-19 |
BLAST |
|
low complexity region
|
90 |
105 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
115 |
134 |
4.34e-5 |
PROSPERO |
|
low complexity region
|
135 |
164 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
188 |
209 |
4.34e-5 |
PROSPERO |
|
| 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 |
0.2157 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
96% (108/112) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
C |
11: 101,301,986 (GRCm39) |
I196V |
probably benign |
Het |
| Aass |
T |
A |
6: 23,075,855 (GRCm39) |
K761* |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,242,306 (GRCm39) |
T1390A |
possibly damaging |
Het |
| Abhd16a |
T |
C |
17: 35,315,582 (GRCm39) |
|
probably null |
Het |
| Acad11 |
C |
T |
9: 103,972,764 (GRCm39) |
Q486* |
probably null |
Het |
| Actl9 |
T |
C |
17: 33,652,909 (GRCm39) |
L323P |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,518,191 (GRCm39) |
I650F |
possibly damaging |
Het |
| Adgre4 |
A |
T |
17: 56,091,971 (GRCm39) |
D77V |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,483,446 (GRCm39) |
F1586S |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,489,213 (GRCm39) |
T320A |
probably benign |
Het |
| Arl15 |
T |
A |
13: 114,104,261 (GRCm39) |
C133S |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,596,760 (GRCm39) |
N1230S |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,141,618 (GRCm39) |
I336K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,490,137 (GRCm39) |
S1044T |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,256,213 (GRCm39) |
F249L |
probably damaging |
Het |
| AU021092 |
G |
T |
16: 5,030,057 (GRCm39) |
N319K |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,230,802 (GRCm39) |
V440A |
probably benign |
Het |
| Bpifb4 |
G |
T |
2: 153,792,305 (GRCm39) |
G450C |
probably damaging |
Het |
| Cadm1 |
G |
A |
9: 47,730,120 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,654 (GRCm39) |
L500F |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
| Cdkl4 |
A |
T |
17: 80,851,081 (GRCm39) |
V207E |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,676 (GRCm39) |
K1213E |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,958,067 (GRCm39) |
D947G |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,781,321 (GRCm39) |
V397A |
probably benign |
Het |
| Cpox |
T |
A |
16: 58,498,332 (GRCm39) |
Y388* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dda1 |
T |
A |
8: 71,926,454 (GRCm39) |
Y58N |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,804,639 (GRCm39) |
T1326I |
possibly damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,937,173 (GRCm39) |
I338F |
probably damaging |
Het |
| Fbxo42 |
A |
G |
4: 140,927,120 (GRCm39) |
T467A |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,517,635 (GRCm39) |
F319S |
possibly damaging |
Het |
| Fmn1 |
A |
T |
2: 113,414,416 (GRCm39) |
Y895F |
possibly damaging |
Het |
| Gm6887 |
C |
A |
7: 42,114,517 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
A |
G |
6: 64,642,899 (GRCm39) |
D887G |
probably benign |
Het |
| Grm6 |
C |
T |
11: 50,753,837 (GRCm39) |
P714S |
probably damaging |
Het |
| Gsto2 |
A |
G |
19: 47,873,095 (GRCm39) |
I157V |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,723,156 (GRCm39) |
|
probably null |
Het |
| Impg1 |
A |
G |
9: 80,221,682 (GRCm39) |
F713L |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,936,376 (GRCm39) |
T373S |
probably benign |
Het |
| Kcnh3 |
T |
A |
15: 99,139,826 (GRCm39) |
L904Q |
probably benign |
Het |
| Kctd19 |
C |
A |
8: 106,117,061 (GRCm39) |
G356V |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,533,750 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 93,006,557 (GRCm39) |
I37V |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,489 (GRCm39) |
R1508C |
probably damaging |
Het |
| Lamb1 |
T |
A |
12: 31,316,847 (GRCm39) |
C65* |
probably null |
Het |
| Lingo1 |
A |
G |
9: 56,527,542 (GRCm39) |
F349S |
probably damaging |
Het |
| Loxl4 |
G |
A |
19: 42,596,052 (GRCm39) |
H147Y |
probably benign |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,181,656 (GRCm39) |
H31Q |
probably damaging |
Het |
| Med23 |
A |
T |
10: 24,769,546 (GRCm39) |
L476F |
probably damaging |
Het |
| Mgst1 |
A |
T |
6: 138,127,836 (GRCm39) |
D66V |
probably damaging |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,576,220 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
T |
12: 116,404,238 (GRCm39) |
R903L |
probably benign |
Het |
| Nme1 |
A |
G |
11: 93,856,734 (GRCm39) |
I9T |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,323,678 (GRCm39) |
I357N |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,581,116 (GRCm39) |
F100S |
probably damaging |
Het |
| Oca2 |
C |
A |
7: 55,904,750 (GRCm39) |
T72K |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,086 (GRCm39) |
D211V |
probably damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,798 (GRCm39) |
D131V |
probably damaging |
Het |
| Or52z15 |
G |
A |
7: 103,332,269 (GRCm39) |
V105M |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,123,921 (GRCm39) |
I92T |
probably damaging |
Het |
| Or9s15 |
C |
A |
1: 92,525,160 (GRCm39) |
D306E |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,713,451 (GRCm39) |
T1240S |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,917 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,493,623 (GRCm39) |
D331G |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,992 (GRCm39) |
T641A |
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,598 (GRCm39) |
L116P |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Rorc |
G |
C |
3: 94,299,017 (GRCm39) |
E391Q |
probably null |
Het |
| Saa4 |
A |
T |
7: 46,381,051 (GRCm39) |
F24I |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,757,788 (GRCm39) |
K772M |
probably damaging |
Het |
| Sdk1 |
T |
G |
5: 142,170,986 (GRCm39) |
L1950V |
probably damaging |
Het |
| Sil1 |
T |
C |
18: 35,399,949 (GRCm39) |
E352G |
probably benign |
Het |
| Slc26a3 |
C |
T |
12: 31,497,773 (GRCm39) |
P59L |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,440 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
A |
G |
5: 115,241,372 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
T |
A |
17: 55,803,345 (GRCm39) |
V360D |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,536,194 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Susd4 |
T |
A |
1: 182,719,626 (GRCm39) |
Y414N |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,556 (GRCm39) |
Y2191H |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,253,809 (GRCm39) |
V754A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,641,560 (GRCm39) |
|
probably benign |
Het |
| Tnn |
A |
T |
1: 159,975,338 (GRCm39) |
S30T |
possibly damaging |
Het |
| Trpd52l3 |
G |
T |
19: 29,981,895 (GRCm39) |
V217F |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,893,248 (GRCm39) |
L1033F |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,167,348 (GRCm39) |
E182G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,198,647 (GRCm39) |
K4490R |
possibly damaging |
Het |
| Usp17la |
A |
T |
7: 104,509,856 (GRCm39) |
R154* |
probably null |
Het |
| Vmn2r17 |
T |
G |
5: 109,575,849 (GRCm39) |
M240R |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,627,428 (GRCm39) |
N56I |
probably benign |
Het |
| Zdhhc21 |
A |
T |
4: 82,738,571 (GRCm39) |
I206N |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,277,278 (GRCm39) |
D122E |
probably benign |
Het |
| Zfp804a |
A |
T |
2: 82,086,926 (GRCm39) |
S252C |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,392,353 (GRCm39) |
T1291I |
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 |
|
R4729:Myo18a
|
UTSW |
11 |
77,668,511 (GRCm39) |
splice site |
probably null |
|
|
R4731:Myo18a
|
UTSW |
11 |
77,720,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4739:Myo18a
|
UTSW |
11 |
77,714,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Myo18a
|
UTSW |
11 |
77,750,062 (GRCm39) |
intron |
probably benign |
|
|
R4889:Myo18a
|
UTSW |
11 |
77,723,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Myo18a
|
UTSW |
11 |
77,736,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5172:Myo18a
|
UTSW |
11 |
77,714,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Myo18a
|
UTSW |
11 |
77,755,668 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5394:Myo18a
|
UTSW |
11 |
77,744,176 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5643:Myo18a
|
UTSW |
11 |
77,745,513 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5808:Myo18a
|
UTSW |
11 |
77,720,127 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5871:Myo18a
|
UTSW |
11 |
77,723,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Myo18a
|
UTSW |
11 |
77,709,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Myo18a
|
UTSW |
11 |
77,732,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6053:Myo18a
|
UTSW |
11 |
77,709,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Myo18a
|
UTSW |
11 |
77,711,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Myo18a
|
UTSW |
11 |
77,755,648 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6558:Myo18a
|
UTSW |
11 |
77,741,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6884:Myo18a
|
UTSW |
11 |
77,709,875 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6983:Myo18a
|
UTSW |
11 |
77,736,341 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6993:Myo18a
|
UTSW |
11 |
77,749,900 (GRCm39) |
intron |
probably benign |
|
|
R7071:Myo18a
|
UTSW |
11 |
77,714,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Myo18a
|
UTSW |
11 |
77,733,387 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7238:Myo18a
|
UTSW |
11 |
77,733,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7328:Myo18a
|
UTSW |
11 |
77,698,737 (GRCm39) |
missense |
|
|
|
R7527:Myo18a
|
UTSW |
11 |
77,734,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Myo18a
|
UTSW |
11 |
77,738,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Myo18a
|
UTSW |
11 |
77,750,246 (GRCm39) |
missense |
|
|
|
R7958:Myo18a
|
UTSW |
11 |
77,732,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Myo18a
|
UTSW |
11 |
77,736,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8168:Myo18a
|
UTSW |
11 |
77,711,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8318:Myo18a
|
UTSW |
11 |
77,714,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8685:Myo18a
|
UTSW |
11 |
77,745,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8778:Myo18a
|
UTSW |
11 |
77,714,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Myo18a
|
UTSW |
11 |
77,718,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Myo18a
|
UTSW |
11 |
77,668,899 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9186:Myo18a
|
UTSW |
11 |
77,749,847 (GRCm39) |
missense |
|
|
|
R9321:Myo18a
|
UTSW |
11 |
77,733,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9357:Myo18a
|
UTSW |
11 |
77,733,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Myo18a
|
UTSW |
11 |
77,709,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Myo18a
|
UTSW |
11 |
77,709,410 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9576:Myo18a
|
UTSW |
11 |
77,709,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Myo18a
|
UTSW |
11 |
77,709,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9698:Myo18a
|
UTSW |
11 |
77,720,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9743:Myo18a
|
UTSW |
11 |
77,723,304 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9777:Myo18a
|
UTSW |
11 |
77,733,080 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Y5407:Myo18a
|
UTSW |
11 |
77,668,641 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Myo18a
|
UTSW |
11 |
77,732,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Myo18a
|
UTSW |
11 |
77,744,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCTGTGTGCCTGAACC -3'
(R):5'- ACAGGGTTAGTTGGACCTGG -3'
Sequencing Primer
(F):5'- TGTGTGCCTGAACCCTCAAAG -3'
(R):5'- TGGGTCTGGGCAGCTCTAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation