Incidental Mutation 'R0513:Myo18a'
| ID |
48034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
038707-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 77702420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000167856]
[ENSMUST00000130305]
[ENSMUST00000130627]
[ENSMUST00000151373]
[ENSMUST00000164334]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000172303]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104012
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 |
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 |
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 |
|
| 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: ENSMUST00000130627
|
| SMART Domains |
Protein: ENSMUSP00000119839
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 |
1850 |
6.9e-36 |
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: ENSMUST00000164334
|
| SMART Domains |
Protein: ENSMUSP00000131771
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 |
1505 |
4e-36 |
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: 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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
99% (122/123) |
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,195 (GRCm39) |
T146A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,192,984 (GRCm39) |
S121P |
possibly damaging |
Het |
| Actr2 |
T |
C |
11: 20,030,124 (GRCm39) |
T212A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,347,088 (GRCm39) |
D368E |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,725,786 (GRCm39) |
T333S |
probably benign |
Het |
| Anapc15 |
T |
C |
7: 101,547,747 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,256,678 (GRCm39) |
R67G |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,286,459 (GRCm39) |
D697G |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,005,766 (GRCm39) |
S755T |
probably benign |
Het |
| Atm |
A |
G |
9: 53,415,248 (GRCm39) |
V881A |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,809,948 (GRCm39) |
|
probably benign |
Het |
| Cfap20dc |
A |
C |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,877,215 (GRCm39) |
N491K |
possibly damaging |
Het |
| Chgb |
T |
C |
2: 132,627,897 (GRCm39) |
|
probably benign |
Het |
| Chrna1 |
C |
A |
2: 73,398,426 (GRCm39) |
|
probably benign |
Het |
| Chst10 |
A |
G |
1: 38,904,844 (GRCm39) |
L283P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,466,323 (GRCm39) |
|
probably null |
Het |
| Crppa |
A |
T |
12: 36,440,467 (GRCm39) |
H125L |
probably damaging |
Het |
| Cryzl1 |
G |
T |
16: 91,496,175 (GRCm39) |
A1E |
possibly damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,709,618 (GRCm39) |
Y213H |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,805,375 (GRCm39) |
Q2062R |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,835,348 (GRCm39) |
C310R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,755 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,085,684 (GRCm39) |
P486S |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,361 (GRCm39) |
L33P |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,164 (GRCm39) |
G856R |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,258,612 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
T |
1: 191,301,819 (GRCm39) |
Y79* |
probably null |
Het |
| Egfr |
T |
G |
11: 16,822,855 (GRCm39) |
L406R |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,800,695 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,310,621 (GRCm39) |
|
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,570 (GRCm39) |
E264G |
possibly damaging |
Het |
| Fscn2 |
G |
T |
11: 120,252,706 (GRCm39) |
V58L |
probably damaging |
Het |
| Gm17324 |
G |
A |
9: 78,356,007 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,425,086 (GRCm39) |
N357K |
probably benign |
Het |
| Gm9956 |
G |
T |
10: 56,621,291 (GRCm39) |
|
|
Het |
| Gsg1l |
C |
T |
7: 125,619,795 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
A |
9: 66,352,927 (GRCm39) |
V2138M |
possibly damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,764 (GRCm39) |
L448P |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,970,034 (GRCm39) |
S255L |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,859,384 (GRCm39) |
D271G |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,194,816 (GRCm39) |
L606H |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,252,906 (GRCm39) |
N53K |
probably damaging |
Het |
| Lsr |
G |
C |
7: 30,657,763 (GRCm39) |
A467G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,823,038 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,998,802 (GRCm39) |
Y337* |
probably null |
Het |
| Mlxipl |
A |
T |
5: 135,166,117 (GRCm39) |
Q833L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,515 (GRCm39) |
V278M |
probably damaging |
Het |
| Mxra8 |
A |
C |
4: 155,926,190 (GRCm39) |
M180L |
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,556,657 (GRCm39) |
|
probably null |
Het |
| Myo1g |
T |
C |
11: 6,460,203 (GRCm39) |
T782A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,975,401 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,328,256 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,741,185 (GRCm39) |
K343R |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,531,584 (GRCm39) |
D733E |
possibly damaging |
Het |
| Nolc1 |
G |
A |
19: 46,072,598 (GRCm39) |
D699N |
probably damaging |
Het |
| Nrbp2 |
C |
T |
15: 75,960,825 (GRCm39) |
A45T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,952,348 (GRCm39) |
V3907A |
possibly damaging |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or2y6 |
T |
C |
11: 52,104,576 (GRCm39) |
Q80R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pank2 |
C |
T |
2: 131,124,526 (GRCm39) |
T290I |
probably damaging |
Het |
| Pbx4 |
T |
C |
8: 70,317,529 (GRCm39) |
V171A |
probably benign |
Het |
| Pcgf1 |
G |
T |
6: 83,057,555 (GRCm39) |
V75F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,660 (GRCm39) |
S778P |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,676,047 (GRCm39) |
I141M |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,914,864 (GRCm39) |
V2508E |
probably damaging |
Het |
| Prkca |
C |
G |
11: 107,905,202 (GRCm39) |
D179H |
possibly damaging |
Het |
| Pspn |
T |
C |
17: 57,306,720 (GRCm39) |
S70G |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,814,637 (GRCm39) |
T846I |
probably benign |
Het |
| Reg3g |
A |
C |
6: 78,444,827 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,704,139 (GRCm39) |
H2062Y |
probably benign |
Het |
| Rsph4a |
C |
T |
10: 33,788,987 (GRCm39) |
Q611* |
probably null |
Het |
| Scart1 |
C |
A |
7: 139,804,873 (GRCm39) |
C625* |
probably null |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,739 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
C |
6: 85,246,955 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,857,651 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,762 (GRCm39) |
I37V |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,503,906 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
C |
7: 15,891,264 (GRCm39) |
D768A |
probably damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,924,909 (GRCm39) |
|
noncoding transcript |
Het |
| Smurf2 |
T |
A |
11: 106,726,931 (GRCm39) |
T453S |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,532,927 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,351,509 (GRCm39) |
T205I |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,902 (GRCm39) |
I1316V |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,646,900 (GRCm39) |
R187G |
probably damaging |
Het |
| Tcea2 |
A |
C |
2: 181,326,274 (GRCm39) |
T93P |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,830 (GRCm39) |
M2311T |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,788,026 (GRCm39) |
Q260R |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,780,158 (GRCm39) |
H698L |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,700 (GRCm39) |
D215G |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,227,071 (GRCm39) |
I727N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,773,669 (GRCm39) |
K2271N |
probably damaging |
Het |
| Ubr2 |
T |
A |
17: 47,297,705 (GRCm39) |
K223* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,144,186 (GRCm39) |
M1410V |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,271 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,981,391 (GRCm39) |
H880L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,661,633 (GRCm39) |
C1686Y |
possibly damaging |
Het |
| Upf2 |
T |
A |
2: 5,962,478 (GRCm39) |
L60Q |
unknown |
Het |
| Usf2 |
A |
T |
7: 30,654,161 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,586 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,970 (GRCm39) |
K181* |
probably null |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,991 (GRCm39) |
S693T |
possibly damaging |
Het |
| Vmn2r76 |
C |
A |
7: 85,877,987 (GRCm39) |
G470V |
probably benign |
Het |
| Vps13c |
A |
C |
9: 67,838,017 (GRCm39) |
I1856L |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,520,210 (GRCm39) |
L119F |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,038,655 (GRCm39) |
S2012C |
probably damaging |
Het |
| Zfp1008 |
A |
C |
13: 62,753,029 (GRCm39) |
V99G |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,714 (GRCm39) |
V924A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,644 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfp39 |
C |
T |
11: 58,780,813 (GRCm39) |
V650I |
probably benign |
Het |
| Zfp82 |
A |
T |
7: 29,756,265 (GRCm39) |
N272K |
probably damaging |
Het |
| Zfyve21 |
A |
C |
12: 111,789,698 (GRCm39) |
D54A |
possibly damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,291,258 (GRCm39) |
D2116N |
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 |
|
R0688:Myo18a
|
UTSW |
11 |
77,714,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Myo18a
|
UTSW |
11 |
77,738,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0790:Myo18a
|
UTSW |
11 |
77,731,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1099:Myo18a
|
UTSW |
11 |
77,709,727 (GRCm39) |
splice site |
probably null |
|
|
R1103:Myo18a
|
UTSW |
11 |
77,714,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Myo18a
|
UTSW |
11 |
77,748,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Myo18a
|
UTSW |
11 |
77,709,473 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1331:Myo18a
|
UTSW |
11 |
77,732,405 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1479:Myo18a
|
UTSW |
11 |
77,733,020 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1723:Myo18a
|
UTSW |
11 |
77,744,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1742:Myo18a
|
UTSW |
11 |
77,732,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1796:Myo18a
|
UTSW |
11 |
77,720,170 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1823:Myo18a
|
UTSW |
11 |
77,715,923 (GRCm39) |
splice site |
probably benign |
|
|
R1827:Myo18a
|
UTSW |
11 |
77,709,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2033:Myo18a
|
UTSW |
11 |
77,733,925 (GRCm39) |
splice site |
probably null |
|
|
R2043:Myo18a
|
UTSW |
11 |
77,714,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2105:Myo18a
|
UTSW |
11 |
77,741,060 (GRCm39) |
missense |
probably benign |
|
|
R2191:Myo18a
|
UTSW |
11 |
77,709,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2264:Myo18a
|
UTSW |
11 |
77,710,798 (GRCm39) |
splice site |
probably benign |
|
|
R2370:Myo18a
|
UTSW |
11 |
77,668,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3015:Myo18a
|
UTSW |
11 |
77,749,846 (GRCm39) |
intron |
probably benign |
|
|
R3433:Myo18a
|
UTSW |
11 |
77,708,870 (GRCm39) |
splice site |
probably null |
|
|
R3739:Myo18a
|
UTSW |
11 |
77,736,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Myo18a
|
UTSW |
11 |
77,668,292 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4056:Myo18a
|
UTSW |
11 |
77,702,839 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4163:Myo18a
|
UTSW |
11 |
77,720,534 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4184:Myo18a
|
UTSW |
11 |
77,748,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Myo18a
|
UTSW |
11 |
77,708,773 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4628:Myo18a
|
UTSW |
11 |
77,714,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Myo18a
|
UTSW |
11 |
77,708,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Myo18a
|
UTSW |
11 |
77,708,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Myo18a
|
UTSW |
11 |
77,668,511 (GRCm39) |
splice site |
probably null |
|
|
R4731:Myo18a
|
UTSW |
11 |
77,720,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4739:Myo18a
|
UTSW |
11 |
77,714,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Myo18a
|
UTSW |
11 |
77,750,062 (GRCm39) |
intron |
probably benign |
|
|
R4889:Myo18a
|
UTSW |
11 |
77,723,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Myo18a
|
UTSW |
11 |
77,736,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5172:Myo18a
|
UTSW |
11 |
77,714,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Myo18a
|
UTSW |
11 |
77,755,668 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5394:Myo18a
|
UTSW |
11 |
77,744,176 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5643:Myo18a
|
UTSW |
11 |
77,745,513 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5808:Myo18a
|
UTSW |
11 |
77,720,127 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5871:Myo18a
|
UTSW |
11 |
77,723,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Myo18a
|
UTSW |
11 |
77,709,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Myo18a
|
UTSW |
11 |
77,732,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6053:Myo18a
|
UTSW |
11 |
77,709,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Myo18a
|
UTSW |
11 |
77,711,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Myo18a
|
UTSW |
11 |
77,755,648 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6558:Myo18a
|
UTSW |
11 |
77,741,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6884:Myo18a
|
UTSW |
11 |
77,709,875 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6983:Myo18a
|
UTSW |
11 |
77,736,341 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6993:Myo18a
|
UTSW |
11 |
77,749,900 (GRCm39) |
intron |
probably benign |
|
|
R7071:Myo18a
|
UTSW |
11 |
77,714,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Myo18a
|
UTSW |
11 |
77,733,387 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7238:Myo18a
|
UTSW |
11 |
77,733,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7328:Myo18a
|
UTSW |
11 |
77,698,737 (GRCm39) |
missense |
|
|
|
R7527:Myo18a
|
UTSW |
11 |
77,734,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Myo18a
|
UTSW |
11 |
77,738,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Myo18a
|
UTSW |
11 |
77,750,246 (GRCm39) |
missense |
|
|
|
R7958:Myo18a
|
UTSW |
11 |
77,732,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGGAGAGTGCCAACCTACACCAG -3'
(R):5'- TCATAGATCACCCTGCTGCTACCG -3'
Sequencing Primer
(F):5'- CTCTGGGAGGTAAGAGTCTCTAAC -3'
(R):5'- TGCTGCTACCGCCAGAAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation