Incidental Mutation 'IGL03291:Megf9'
| ID |
415919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Megf9
|
| Ensembl Gene |
ENSMUSG00000039270 |
| Gene Name |
multiple EGF-like-domains 9 |
| Synonyms |
Egfl5, 4933405H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
70350164-70453165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70406387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 260
(V260I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037881]
[ENSMUST00000107359]
|
| AlphaFold |
Q8BH27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037881
AA Change: V260I
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040801
Gene: ENSMUSG00000039270
AA Change: V260I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
199 |
N/A |
INTRINSIC |
|
EGF_Lam
|
202 |
252 |
3.97e-9 |
SMART |
|
TNFR
|
236 |
271 |
3.38e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107359
AA Change: V260I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102982
Gene: ENSMUSG00000039270
AA Change: V260I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
199 |
N/A |
INTRINSIC |
|
EGF_Lam
|
202 |
249 |
2.8e-9 |
SMART |
|
TNFR
|
236 |
272 |
1.26e-1 |
SMART |
|
EGF_Lam
|
252 |
296 |
2.13e-9 |
SMART |
|
EGF_Lam
|
299 |
344 |
1.42e-10 |
SMART |
|
EGF_Lam
|
347 |
395 |
6.3e-3 |
SMART |
|
EGF_Lam
|
398 |
447 |
3.05e-10 |
SMART |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,610,081 (GRCm39) |
V364A |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,909,662 (GRCm39) |
I378V |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,328 (GRCm39) |
|
probably benign |
Het |
| Glcci1 |
T |
A |
6: 8,579,678 (GRCm39) |
I293K |
probably damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,923 (GRCm39) |
F254L |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
probably damaging |
Het |
|
| Other mutations in Megf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01604:Megf9
|
APN |
4 |
70,367,028 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01697:Megf9
|
APN |
4 |
70,351,709 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0020:Megf9
|
UTSW |
4 |
70,406,386 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0325:Megf9
|
UTSW |
4 |
70,374,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Megf9
|
UTSW |
4 |
70,353,585 (GRCm39) |
missense |
probably benign |
|
|
R1144:Megf9
|
UTSW |
4 |
70,452,861 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1843:Megf9
|
UTSW |
4 |
70,453,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Megf9
|
UTSW |
4 |
70,367,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Megf9
|
UTSW |
4 |
70,351,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4656:Megf9
|
UTSW |
4 |
70,367,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Megf9
|
UTSW |
4 |
70,367,015 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4832:Megf9
|
UTSW |
4 |
70,452,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6573:Megf9
|
UTSW |
4 |
70,406,409 (GRCm39) |
nonsense |
probably null |
|
|
R6978:Megf9
|
UTSW |
4 |
70,351,766 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7243:Megf9
|
UTSW |
4 |
70,353,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7481:Megf9
|
UTSW |
4 |
70,351,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8063:Megf9
|
UTSW |
4 |
70,406,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Megf9
|
UTSW |
4 |
70,374,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Megf9
|
UTSW |
4 |
70,353,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Megf9
|
UTSW |
4 |
70,353,634 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9318:Megf9
|
UTSW |
4 |
70,353,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation