Incidental Mutation 'IGL01697:Megf9'
| ID |
104317 |
| 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: 0.170)
|
| Stock # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
70350164-70453165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70351709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 471
(T471S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107359]
|
| AlphaFold |
Q8BH27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107359
AA Change: T471S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102982
Gene: ENSMUSG00000039270
AA Change: T471S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,761,622 (GRCm39) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,786,132 (GRCm39) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm39) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm39) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,920,460 (GRCm39) |
|
probably benign |
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 |
|
IGL03291:Megf9
|
APN |
4 |
70,406,387 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2014-01-21 |
Incidental Mutation