Incidental Mutation 'IGL01113:Medag'
| ID |
51127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Medag
|
| Ensembl Gene |
ENSMUSG00000029659 |
| Gene Name |
mesenteric estrogen dependent adipogenesis |
| Synonyms |
MEDA-4, 6330406I15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149335214-149355188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149353372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 189
(I189T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093110]
[ENSMUST00000201083]
|
| AlphaFold |
Q14BA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093110
AA Change: I303T
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090798
Gene: ENSMUSG00000029659
AA Change: I303T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201083
AA Change: I189T
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201641
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
| Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
| Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
| Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
| Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
| Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
| Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
| Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
| Other mutations in Medag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02531:Medag
|
APN |
5 |
149,345,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02817:Medag
|
APN |
5 |
149,350,503 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Medag
|
UTSW |
5 |
149,350,750 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4494001:Medag
|
UTSW |
5 |
149,350,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Medag
|
UTSW |
5 |
149,335,674 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1654:Medag
|
UTSW |
5 |
149,345,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Medag
|
UTSW |
5 |
149,353,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1999:Medag
|
UTSW |
5 |
149,350,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Medag
|
UTSW |
5 |
149,350,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Medag
|
UTSW |
5 |
149,350,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Medag
|
UTSW |
5 |
149,345,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Medag
|
UTSW |
5 |
149,335,444 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R5218:Medag
|
UTSW |
5 |
149,345,719 (GRCm39) |
splice site |
probably benign |
|
|
R5593:Medag
|
UTSW |
5 |
149,350,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5700:Medag
|
UTSW |
5 |
149,345,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6043:Medag
|
UTSW |
5 |
149,345,672 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7009:Medag
|
UTSW |
5 |
149,350,708 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8953:Medag
|
UTSW |
5 |
149,350,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Medag
|
UTSW |
5 |
149,335,459 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Medag
|
UTSW |
5 |
149,350,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation