Incidental Mutation 'R6053:Myo18a'
| ID |
484256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo18a
|
| Ensembl Gene |
ENSMUSG00000000631 |
| Gene Name |
myosin XVIIIA |
| Synonyms |
MyoPDZ |
| MMRRC Submission |
044221-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77654072-77756806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77709002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 471
(H471Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092884]
[ENSMUST00000092887]
[ENSMUST00000100794]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000164334]
[ENSMUST00000130627]
[ENSMUST00000168348]
[ENSMUST00000169105]
[ENSMUST00000172303]
[ENSMUST00000130305]
[ENSMUST00000151373]
[ENSMUST00000167856]
|
| AlphaFold |
Q9JMH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000645
AA Change: H423Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: H423Q
| 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: H92Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: H92Q
| 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: H423Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: H423Q
| 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: H92Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: H92Q
| 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: H423Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: H423Q
| 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: H423Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: H423Q
| 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: H423Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: H423Q
| 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: H92Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: H92Q
| 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: ENSMUST00000130627
AA Change: H435Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: H435Q
| 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: ENSMUST00000168348
AA Change: H471Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: H471Q
| 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: H435Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: H435Q
| 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: H104Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: H104Q
| 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: H104Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: H104Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,964,666 (GRCm39) |
Y2158H |
probably damaging |
Het |
| Acap1 |
T |
G |
11: 69,777,896 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
A |
1: 171,080,284 (GRCm39) |
I279N |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,843,496 (GRCm39) |
E705G |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,422 (GRCm39) |
T477A |
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,123,824 (GRCm39) |
L398F |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,910,239 (GRCm39) |
L34* |
probably null |
Het |
| Ccdc171 |
T |
G |
4: 83,713,456 (GRCm39) |
L1165R |
probably damaging |
Het |
| Ccdc3 |
G |
A |
2: 5,233,838 (GRCm39) |
V221I |
probably benign |
Het |
| Cdc42ep4 |
T |
A |
11: 113,619,812 (GRCm39) |
H193L |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,277,208 (GRCm39) |
W361* |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,446,090 (GRCm39) |
N832S |
probably benign |
Het |
| Col5a1 |
A |
T |
2: 27,904,389 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,217,945 (GRCm39) |
D785G |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,457,260 (GRCm39) |
P1102Q |
possibly damaging |
Het |
| Ctc1 |
T |
A |
11: 68,918,727 (GRCm39) |
M550K |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,532,952 (GRCm39) |
R273G |
probably damaging |
Het |
| Dnajb7 |
T |
C |
15: 81,291,500 (GRCm39) |
E279G |
probably benign |
Het |
| Dop1a |
G |
T |
9: 86,397,347 (GRCm39) |
G882W |
possibly damaging |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,017,592 (GRCm39) |
L629Q |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,533,024 (GRCm39) |
D497G |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,903,661 (GRCm39) |
M313V |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,437,323 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ercc3 |
T |
G |
18: 32,379,807 (GRCm39) |
V338G |
probably damaging |
Het |
| Fkbp5 |
T |
C |
17: 28,647,440 (GRCm39) |
I132V |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,638,449 (GRCm39) |
Y1846N |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,432,161 (GRCm39) |
L298P |
possibly damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,210 (GRCm39) |
P436S |
probably benign |
Het |
| Gbx2 |
T |
C |
1: 89,858,159 (GRCm39) |
T107A |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,170,184 (GRCm39) |
H324N |
probably damaging |
Het |
| Gnas |
T |
A |
2: 174,141,645 (GRCm39) |
S605T |
possibly damaging |
Het |
| Ica1 |
C |
T |
6: 8,630,783 (GRCm39) |
A431T |
probably benign |
Het |
| Il10ra |
C |
T |
9: 45,167,601 (GRCm39) |
D319N |
probably damaging |
Het |
| Jmjd4 |
T |
A |
11: 59,344,870 (GRCm39) |
H274Q |
probably damaging |
Het |
| Krt28 |
C |
A |
11: 99,262,027 (GRCm39) |
L294F |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,802,122 (GRCm39) |
T766K |
probably damaging |
Het |
| Man2b2 |
C |
A |
5: 36,970,382 (GRCm39) |
M841I |
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,673,347 (GRCm39) |
M85K |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,385,031 (GRCm39) |
D206V |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,418,445 (GRCm39) |
F3797S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,842,697 (GRCm39) |
D561G |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,300,251 (GRCm39) |
E873G |
probably damaging |
Het |
| Ngfr |
G |
A |
11: 95,461,832 (GRCm39) |
H361Y |
possibly damaging |
Het |
| Nnt |
T |
C |
13: 119,494,045 (GRCm39) |
T679A |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,362,924 (GRCm39) |
N947K |
probably benign |
Het |
| Nrg4 |
A |
T |
9: 55,143,774 (GRCm39) |
V94D |
probably benign |
Het |
| Nsd1 |
G |
T |
13: 55,441,422 (GRCm39) |
C1631F |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,435 (GRCm39) |
T827A |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,892 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,898 (GRCm39) |
D179G |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,351 (GRCm39) |
Y250N |
probably damaging |
Het |
| Or6p1 |
C |
A |
1: 174,258,135 (GRCm39) |
S47* |
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Orai3 |
C |
T |
7: 127,373,050 (GRCm39) |
P184S |
probably benign |
Het |
| Paqr3 |
A |
T |
5: 97,259,137 (GRCm39) |
S56T |
probably benign |
Het |
| Pard6b |
C |
T |
2: 167,940,973 (GRCm39) |
T320M |
possibly damaging |
Het |
| Pgs1 |
T |
C |
11: 117,892,535 (GRCm39) |
S166P |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,478,121 (GRCm39) |
T114A |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plin4 |
A |
T |
17: 56,415,618 (GRCm39) |
D73E |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
| Rbak |
A |
C |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,123,296 (GRCm39) |
F360L |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,100,153 (GRCm39) |
D187E |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,072,871 (GRCm39) |
Q66* |
probably null |
Het |
| Sh2d5 |
T |
A |
4: 137,982,873 (GRCm39) |
M85K |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,722,463 (GRCm39) |
V861A |
possibly damaging |
Het |
| Stk11ip |
T |
A |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
G |
A |
10: 68,584,314 (GRCm39) |
E127K |
probably benign |
Het |
| Tmem41a |
T |
G |
16: 21,753,739 (GRCm39) |
T211P |
possibly damaging |
Het |
| Tmem69 |
T |
A |
4: 116,410,581 (GRCm39) |
M130L |
possibly damaging |
Het |
| Trak2 |
C |
A |
1: 58,943,228 (GRCm39) |
R726L |
possibly damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,081 (GRCm39) |
I278T |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,577,628 (GRCm39) |
V490I |
probably benign |
Het |
| Wdr33 |
C |
T |
18: 32,011,116 (GRCm39) |
T255I |
possibly damaging |
Het |
| Ylpm1 |
G |
T |
12: 85,043,277 (GRCm39) |
W5L |
possibly damaging |
Het |
| Zfp169 |
A |
T |
13: 48,652,334 (GRCm39) |
W28R |
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 |
|
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 |
|
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'- TTGGAAGGAGCATCTGTCAAGG -3'
(R):5'- ACTACAGGATATCCCTCTGTCC -3'
Sequencing Primer
(F):5'- GCATCTGTCAAGGGAGGAC -3'
(R):5'- GGACTCTTCTGTCGAGGTCAAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation