Incidental Mutation 'R4647:Myo18a'
| ID |
350407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
041908-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4647 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77708776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 61
(V61E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000164334]
[ENSMUST00000130305]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000172303]
[ENSMUST00000130627]
[ENSMUST00000151373]
[ENSMUST00000167856]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000645
AA Change: V380E
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: V380E
| 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: V49E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: V49E
| 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 |
possibly damaging
Transcript: ENSMUST00000092887
AA Change: V380E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: V380E
| 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: V49E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: V49E
| 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 |
possibly damaging
Transcript: ENSMUST00000102488
AA Change: V380E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: V380E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1866 |
3e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108375
AA Change: V380E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: V380E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1838 |
6.8e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108376
AA Change: V380E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: V380E
| 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: V49E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: V49E
| 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: ENSMUST00000130305
AA Change: V61E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: V61E
| 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: ENSMUST00000168348
AA Change: V428E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: V428E
| 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: V392E
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: V392E
| 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: V61E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: V61E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
80 |
863 |
4.16e-47 |
SMART |
|
IQ
|
864 |
886 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
902 |
1547 |
2.6e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130627
AA Change: V392E
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: V392E
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 139 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700031F05Rik |
G |
T |
X: 101,904,515 (GRCm39) |
N132K |
possibly damaging |
Het |
| Aatf |
T |
C |
11: 84,362,023 (GRCm39) |
D313G |
possibly damaging |
Het |
| Abcb11 |
T |
G |
2: 69,115,615 (GRCm39) |
D583A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,676,914 (GRCm39) |
Y1252* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,283,090 (GRCm39) |
|
silent |
Het |
| Angpt1 |
T |
A |
15: 42,539,580 (GRCm39) |
Y93F |
probably benign |
Het |
| Ankrd27 |
C |
T |
7: 35,337,659 (GRCm39) |
P991L |
probably benign |
Het |
| Ap1s3 |
C |
T |
1: 79,591,920 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
A |
C |
7: 105,214,745 (GRCm39) |
S500A |
probably benign |
Het |
| Arc |
G |
A |
15: 74,543,374 (GRCm39) |
A283V |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,349 (GRCm39) |
S216T |
probably benign |
Het |
| C1qtnf4 |
T |
A |
2: 90,719,996 (GRCm39) |
S90T |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,810,327 (GRCm39) |
K310* |
probably null |
Het |
| Calhm1 |
A |
G |
19: 47,132,240 (GRCm39) |
L125P |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,321,162 (GRCm39) |
L278F |
probably damaging |
Het |
| Ccar1 |
A |
T |
10: 62,583,196 (GRCm39) |
Y972* |
probably null |
Het |
| Cd163 |
C |
T |
6: 124,297,580 (GRCm39) |
P909S |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,668,274 (GRCm39) |
H268L |
possibly damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,165,072 (GRCm39) |
L517Q |
probably damaging |
Het |
| Cep68 |
G |
T |
11: 20,189,349 (GRCm39) |
N554K |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,893,038 (GRCm39) |
W515R |
probably damaging |
Het |
| Clca4b |
A |
C |
3: 144,634,286 (GRCm39) |
H102Q |
probably benign |
Het |
| Cldn15 |
T |
A |
5: 137,003,337 (GRCm39) |
I142N |
probably damaging |
Het |
| Cmklr1 |
T |
A |
5: 113,752,701 (GRCm39) |
D100V |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,788 (GRCm39) |
P63S |
probably damaging |
Het |
| Ddx39a |
A |
T |
8: 84,448,902 (GRCm39) |
H259L |
probably benign |
Het |
| Dhx16 |
C |
G |
17: 36,196,527 (GRCm39) |
A565G |
probably benign |
Het |
| Dimt1 |
A |
T |
13: 107,084,163 (GRCm39) |
D50V |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,823,658 (GRCm39) |
L1428H |
probably damaging |
Het |
| Dpp4 |
G |
T |
2: 62,164,949 (GRCm39) |
T700K |
probably damaging |
Het |
| E030030I06Rik |
T |
A |
10: 22,024,744 (GRCm39) |
R56S |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,864,255 (GRCm39) |
T925A |
probably benign |
Het |
| Ext1 |
A |
G |
15: 52,953,383 (GRCm39) |
S494P |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,221,328 (GRCm39) |
E140K |
probably damaging |
Het |
| Fgfr3 |
C |
T |
5: 33,892,330 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
A |
G |
11: 42,198,199 (GRCm39) |
I407T |
probably damaging |
Het |
| Gm16223 |
C |
A |
5: 42,371,954 (GRCm39) |
L115M |
unknown |
Het |
| Gm4781 |
G |
T |
10: 100,232,862 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
T |
A |
17: 22,226,013 (GRCm39) |
I70F |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,100,513 (GRCm39) |
F497Y |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,344 (GRCm39) |
Y192* |
probably null |
Het |
| Gtf2ird2 |
G |
A |
5: 134,245,034 (GRCm39) |
A431T |
probably damaging |
Het |
| H2-K2 |
T |
A |
17: 34,194,989 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M11 |
T |
A |
17: 36,858,883 (GRCm39) |
V141D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,551,262 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,289,031 (GRCm39) |
Q2280L |
possibly damaging |
Het |
| Hmg20b |
T |
A |
10: 81,184,416 (GRCm39) |
Q129L |
probably damaging |
Het |
| Igfbp7 |
T |
A |
5: 77,499,143 (GRCm39) |
Q285L |
possibly damaging |
Het |
| Igkv13-85 |
T |
A |
6: 68,907,720 (GRCm39) |
|
probably benign |
Het |
| Inpp5e |
A |
T |
2: 26,297,926 (GRCm39) |
L225H |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,260,833 (GRCm39) |
V91E |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,009,868 (GRCm39) |
E26G |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,876,339 (GRCm39) |
D156V |
probably damaging |
Het |
| Kmo |
C |
A |
1: 175,487,340 (GRCm39) |
Y430* |
probably null |
Het |
| Lbx2 |
A |
G |
6: 83,065,027 (GRCm39) |
D188G |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,890,931 (GRCm39) |
L474* |
probably null |
Het |
| Lnx1 |
C |
T |
5: 74,771,457 (GRCm39) |
V350I |
probably benign |
Het |
| Lrrc45 |
T |
A |
11: 120,609,947 (GRCm39) |
S464T |
probably benign |
Het |
| Ltc4s |
T |
A |
11: 50,128,052 (GRCm39) |
T61S |
probably benign |
Het |
| Luc7l3 |
A |
C |
11: 94,200,467 (GRCm39) |
N50K |
probably damaging |
Het |
| Ly75 |
G |
A |
2: 60,138,622 (GRCm39) |
T1415M |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,420 (GRCm39) |
E2447G |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,850 (GRCm39) |
D812G |
probably benign |
Het |
| Mbtd1 |
C |
T |
11: 93,815,437 (GRCm39) |
H342Y |
probably damaging |
Het |
| Mest |
C |
T |
6: 30,745,109 (GRCm39) |
R226* |
probably null |
Het |
| Mindy1 |
A |
T |
3: 95,190,054 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
T |
9: 7,274,233 (GRCm39) |
D180V |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,949 (GRCm39) |
T640A |
probably benign |
Het |
| Msi2 |
T |
C |
11: 88,608,864 (GRCm39) |
H18R |
possibly damaging |
Het |
| Myo19 |
T |
G |
11: 84,785,468 (GRCm39) |
I237S |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,254,635 (GRCm39) |
L416Q |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 70,987,952 (GRCm39) |
|
probably null |
Het |
| Or1n1b |
A |
G |
2: 36,780,663 (GRCm39) |
F66L |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,547 (GRCm39) |
N220K |
probably benign |
Het |
| Or51a25 |
A |
G |
7: 102,373,299 (GRCm39) |
S133P |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,441 (GRCm39) |
I163V |
probably benign |
Het |
| Or8s10 |
G |
T |
15: 98,335,457 (GRCm39) |
V36F |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,671,757 (GRCm39) |
F495S |
probably damaging |
Het |
| Pan3 |
G |
T |
5: 147,464,013 (GRCm39) |
D535Y |
probably damaging |
Het |
| Paqr3 |
T |
A |
5: 97,256,069 (GRCm39) |
R102* |
probably null |
Het |
| Patl1 |
T |
A |
19: 11,891,798 (GRCm39) |
D34E |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,189 (GRCm39) |
T461S |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,190,047 (GRCm39) |
S2830G |
probably benign |
Het |
| Pdgfa |
G |
A |
5: 138,964,939 (GRCm39) |
T181I |
probably benign |
Het |
| Pds5a |
C |
A |
5: 65,813,661 (GRCm39) |
D275Y |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,487,503 (GRCm39) |
Y607* |
probably null |
Het |
| Pomt2 |
G |
T |
12: 87,164,857 (GRCm39) |
T517K |
possibly damaging |
Het |
| Pramel23 |
T |
C |
4: 143,425,914 (GRCm39) |
M10V |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,315,686 (GRCm39) |
T817A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,525 (GRCm39) |
D1255G |
possibly damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,509 (GRCm39) |
C859S |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,229,549 (GRCm39) |
M1077K |
possibly damaging |
Het |
| Ralgds |
T |
C |
2: 28,435,532 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,638,865 (GRCm39) |
E314G |
probably null |
Het |
| Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rnf139 |
A |
T |
15: 58,771,836 (GRCm39) |
L620F |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,781,989 (GRCm39) |
N1105K |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,981 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
A |
T |
11: 120,946,760 (GRCm39) |
V45E |
probably damaging |
Het |
| Selenon |
A |
G |
4: 134,272,968 (GRCm39) |
W157R |
probably damaging |
Het |
| Sema3b |
C |
A |
9: 107,476,250 (GRCm39) |
R657L |
possibly damaging |
Het |
| Setd1b |
C |
T |
5: 123,286,175 (GRCm39) |
A407V |
unknown |
Het |
| Sh3tc1 |
C |
T |
5: 35,863,662 (GRCm39) |
A842T |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,566 (GRCm39) |
E1268G |
probably damaging |
Het |
| Shmt1 |
G |
A |
11: 60,692,291 (GRCm39) |
S155F |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,924,385 (GRCm39) |
E510G |
possibly damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,733,245 (GRCm39) |
I168N |
probably damaging |
Het |
| Slc26a4 |
T |
G |
12: 31,590,525 (GRCm39) |
D376A |
possibly damaging |
Het |
| Slfn14 |
G |
T |
11: 83,167,484 (GRCm39) |
A677E |
probably benign |
Het |
| Slk |
G |
T |
19: 47,608,713 (GRCm39) |
Q555H |
possibly damaging |
Het |
| Synj1 |
A |
T |
16: 90,770,877 (GRCm39) |
D517E |
probably damaging |
Het |
| Syvn1 |
G |
A |
19: 6,101,504 (GRCm39) |
R440Q |
probably benign |
Het |
| Tafa5 |
T |
G |
15: 87,604,783 (GRCm39) |
S115A |
probably damaging |
Het |
| Tas2r118 |
A |
T |
6: 23,969,467 (GRCm39) |
I198N |
probably damaging |
Het |
| Tdh |
A |
G |
14: 63,731,205 (GRCm39) |
L323P |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,843 (GRCm39) |
M197K |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,075,825 (GRCm39) |
Y19C |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,973,612 (GRCm39) |
M252V |
probably benign |
Het |
| Trdn |
G |
T |
10: 33,071,977 (GRCm39) |
E215* |
probably null |
Het |
| Trmt1l |
G |
T |
1: 151,333,632 (GRCm39) |
V712F |
possibly damaging |
Het |
| Tti1 |
T |
C |
2: 157,848,940 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,970,918 (GRCm39) |
H1018R |
probably benign |
Het |
| Vim |
A |
T |
2: 13,587,306 (GRCm39) |
H461L |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,665 (GRCm39) |
E282D |
probably damaging |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,367 (GRCm39) |
I735F |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,250 (GRCm39) |
M829V |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,410,407 (GRCm39) |
M665K |
possibly damaging |
Het |
| Wbp2 |
T |
A |
11: 115,973,207 (GRCm39) |
M67L |
probably benign |
Het |
| Wdr81 |
T |
A |
11: 75,336,814 (GRCm39) |
E1525V |
probably damaging |
Het |
| Xbp1 |
A |
G |
11: 5,472,006 (GRCm39) |
D44G |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,341 (GRCm39) |
F1500V |
probably damaging |
Het |
| Zfp286 |
A |
C |
11: 62,674,559 (GRCm39) |
Y95* |
probably null |
Het |
| Zfp872 |
A |
G |
9: 22,111,057 (GRCm39) |
T178A |
possibly damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,155,640 (GRCm39) |
H364R |
possibly damaging |
Het |
| Zp3r |
A |
T |
1: 130,505,697 (GRCm39) |
Y422N |
probably damaging |
Het |
| Zscan10 |
C |
T |
17: 23,829,314 (GRCm39) |
R542C |
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 |
|
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'- CTTGAGTCAGAACTGGCATGAG -3'
(R):5'- GCCAGATCTTCTAGACGGTCAC -3'
Sequencing Primer
(F):5'- AAATGCCTCTGCCCCTGGTAAG -3'
(R):5'- TCTTCTAGACGGTCACATGAAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation